Motor cortical hyperexcitability in idiopathic scoliosis: could focal dystonia be a subclinical etiological factor?

PubMed Central

Tormos, José María; Barrios, Carlos; Pascual-Leone, Alvaro

2009-01-01

The aetiology of idiopathic scoliosis (IS) remains unknown; however, there is a growing body of evidence suggesting that the spine deformity could be the expression of a subclinical nervous system disorder. A defective sensory input or an anomalous sensorimotor integration may lead to an abnormal postural tone and therefore the development of a spine deformity. Inhibition of the motor cortico-cortical excitability is abnormal in dystonia. Therefore, the study of cortico-cortical inhibition may shed some insight into the dystonia hypothesis regarding the pathophysiology of IS. Paired pulse transcranial magnetic stimulation was used to study cortico-cortical inhibition and facilitation in nine adolescents with IS, five teenagers with congenital scoliosis (CS) and eight healthy age-matched controls. The effect of a previous conditioning stimulus (80% intensity of resting motor threshold) on the amplitude of the motor-evoked potential induced by the test stimulus (120% of resting motor threshold) was examined at various interstimulus intervals (ISIs) in both abductor pollicis brevis muscles. The results of healthy adolescents and those with CS showed a marked inhibitory effect of the conditioning stimulus on the response to the test stimulus at interstimulus intervals shorter than 6 ms. These findings do not differ from those reported for normal adults. However, children with IS revealed an abnormally reduced cortico-cortical inhibition at the short ISIs. Cortico-cortical inhibition was practically normal on the side of the scoliotic convexity while it was significantly reduced on the side of the scoliotic concavity. In conclusion, these findings support the hypothesis that a dystonic dysfunction underlies in IS. Asymmetrical cortical hyperexcitability may play an important role in the pathogenesis of IS and represents an objective neurophysiological finding that could be used clinically. PMID:20033462

Abnormal tactile temporal discrimination in psychogenic dystonia.

PubMed

Morgante, F; Tinazzi, M; Squintani, G; Martino, D; Defazio, G; Romito, L; Albanese, A; Di Matteo, A; Quartarone, A; Girlanda, P; Fiorio, M; Berardelli, A

2011-09-20

Neurophysiologic studies demonstrated that patients with primary torsion dystonia (PTD) and with psychogenic dystonia (Psy-D) share similar abnormalities in the motor system. In this study, we evaluated somatosensory function in Psy-D by testing temporal discrimination threshold (TDT), and compared the results with those obtained in patients with PTD. TDT of tactile stimuli was assessed in 10 patients with Psy-D, 10 patients with PTD, and 16 control subjects. The 2 groups of patients were matched for age, gender, disease duration, and distribution of dystonia. Tactile stimuli consisted of pairs of non-noxious electrical shocks delivered to the right or left hand at interstimulus interval increasing from 0 to 400 msec, in 10-msec steps. TDT was defined as the value at which subjects recognized the 2 stimuli as asynchronous. TDT was higher in Psy-D and PTD compared to control subjects, for both the right and the left hand. In a subgroup of patients with unilateral dystonia (Psy-D = 4, PTD = 5), TDT did not differ between the affected and the unaffected side in both groups of patients. Disease duration was not correlated to the increased TDT value. Our study suggests an impaired processing of somatosensory inputs in both Psy-D and PTD. These abnormalities might represent a neurophysiological trait predisposing to develop a dystonic posture triggered by psychiatric and psychological factors.

Mental rotation of body parts and non-corporeal objects in patients with idiopathic cervical dystonia.

PubMed

Fiorio, Mirta; Tinazzi, Michele; Ionta, Silvio; Fiaschi, Antonio; Moretto, Giuseppe; Edwards, Mark J; Bhatia, Kailash P; Aglioti, Salvatore M

2007-06-11

Mental rotation of body parts is performed through inner simulation of actual movements, and is likely to rely upon cortical and subcortical systems (e.g. motor and premotor areas and basal ganglia) involved in motor planning and execution. Studies indicate that sensory and motor deficits, such as for example pain, limb amputation or focal hand dystonia, bring about a specific impairment in mental rotation of the affected body parts. Here we explored the ability of patients affected by idiopathic cervical dystonia (CD) to mentally rotate affected (neck) and unaffected (hands and feet) body districts. The experimental stimuli consisted of realistic photos of left or right hands or feet and the head of a young men with a black patch on the left or the right eye. As non-corporeal stimulus the front view of a car with a black patch on the left or the right headlight was used. The stimuli were presented at six different degrees of orientations. Twelve CD patients and 12 healthy participants were asked to verbally report whether the hands or feet were left or right, or whether the patch was on the left or the right eye or headlight. Reaction times and accuracy in performing the laterality tasks on the four stimuli were collected. Results showed that CD patients are slow in mental rotation of stimuli representing body parts, namely hand, foot and head. This abnormality was not due to a general impairment in mental rotation per se, since patients' ability to rotate a non-corporeal object (a car) was not significantly different from that of healthy participants. We posit that the deficit in mental rotation of body parts in CD patients may derive from a defective integration of body- and world-related knowledge, a process that is likely to allow a general representation of "me in the external world".

Dopamine Dysfunction in DYT1 Dystonia

DTIC Science & Technology

2015-07-01

20mM Tris-Cl (pH 7.6), 137 mM NaCl, 0.1% Tween 20, the membranes were incubated overnight at 4°C with rabbit anti-tor- sinA antibody (1:500; Abcam...during the juvenile period to changes in tor- sinA expression or function. Another consideration is the potential compensatory effects of torsinB, which...Buckley AC, Burdette AJ, et al. (2010) Chemical enhancement of tor- sinA function in cell and animal models of torsion dystonia. Dis Model Mech 3: 386–396

Oromandibular Dystonia

MedlinePlus

... muscles and lips of musicians who play wind instruments is called embouchure dystonia. Dystonia that specifically affects ... Dystonia Coalition About DMRF Mission People Dystonia Dialogue Financials For the Media Connect Contact Us Privacy Policy ...

Dystonia.

PubMed

Morgante, Francesca; Klein, Christine

2013-10-01

The purpose of this review is to provide an update on the classification, phenomenology, pathophysiology, and treatment of dystonia. A revised definition based on the main phenomenologic features of dystonia has recently been developed in an expert consensus approach. Classification is based on two main axes: clinical features and etiology. Currently, genes have been reported for 14 types of monogenic isolated and combined dystonia. Isolated dystonia (with dystonic tremor) can be caused by mutations in TOR1A (DYT1), TUBB4 (DYT4), THAP1 (DYT6), PRKRA (DYT16), CIZ1 (DYT23), ANO3 (DYT24), and GNAL (DYT25). Combined dystonias (with parkinsonism or myoclonus) are further subdivided into persistent (GCHI [DYT5], SGCE [DYT11], and ATP1A3 [DYT12], with TAF1 most likely but not yet proven to be linked to DYT3) and paroxysmal (PNKD [DYT8], PRRT2 [DYT10], and SLC2A1 [DYT18]). Recent insights from neurophysiologic studies identified functional abnormalities in two networks in dystonia: the basal ganglia-sensorimotor network and, more recently, the cerebellothalamocortical pathway. Besides the well-known lack of inhibition at different CNS levels, dystonia is specifically characterized by maladaptive plasticity in the sensorimotor cortex and loss of cortical surround inhibition. The exact role (modulatory or compensatory) of the cerebellar-cortical pathways still has to be further elucidated. In addition to botulinum toxin for focal forms, deep brain stimulation of the globus pallidus internus is increasingly recognized as an effective treatment for generalized and segmental dystonia. The revised classification and identification of new genes for different forms of dystonia, including adult-onset segmental dystonia, enable an improved diagnostic approach. Recent pathophysiologic insights have fundamentally contributed to a better understanding of the disease mechanisms and impact on treatment, such as functional neurosurgery and nonpharmacologic treatment options.

Dystonia.

PubMed

De Pablo-Fernandez, Eduardo; Warner, Thomas T

2017-09-01

Dystonia is a clinically heterogeneous group of hyperkinetic movement disorders. Recent advances have provided a better understanding of these conditions with significant clinical impact. Peer reviewed journals and reviews. PubMed.gov. A recent consensus classification, including the assessment of phenomenology and identification of the dystonia syndromes, has provided a helpful tool for the clinical assessment. New forms of monogenic dystonia have been recently identified. Despite recent advances in the understanding of dystonia, treatment remains symptomatic in most patients. Recent advances in genetics have provided a better understanding of the potential pathogenic mechanisms involved in dystonia. Deep brain stimulation has shown to improve focal and combined forms of dystonia and its indications are constantly expanding. Growing understanding of the disease mechanisms involved will allow the development of targeted and disease-modifying therapies in the future. © The Author 2017. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com

Causes of failure of pallidal deep brain stimulation in cases with pre-operative diagnosis of isolated dystonia.

PubMed

Pauls, K Amande M; Krauss, Joachim K; Kämpfer, Constanze E; Kühn, Andrea A; Schrader, Christoph; Südmeyer, Martin; Allert, Niels; Benecke, Rainer; Blahak, Christian; Boller, Jana K; Fink, Gereon R; Fogel, Wolfgang; Liebig, Thomas; El Majdoub, Faycal; Mahlknecht, Philipp; Kessler, Josef; Mueller, Joerg; Voges, Juergen; Wittstock, Matthias; Wolters, Alexander; Maarouf, Mohammad; Moro, Elena; Volkmann, Jens; Bhatia, Kailash P; Timmermann, Lars

2017-10-01

Pallidal deep brain stimulation (GPi-DBS) is an effective therapy for isolated dystonia, but 10-20% of patients show improvement below 25-30%. We here investigated causes of insufficient response to GPi-DBS in isolated dystonia in a cross-sectional study. Patients with isolated dystonia at time of surgery, and <30% improvement on the Burke-Fahn-Marsden dystonia-rating-scale (BFMDRS) after ≥6 months of continuous GPi-DBS were videotaped ON and OFF stimulation, and history, preoperative videos, brain MRI, medical records, stimulation settings, stimulation system integrity, lead location, and genetic information were obtained and reviewed by an expert panel. 22 patients from 11 centres were included (8 men, 14 women; 9 generalized, 9 segmental, 3 focal, 1 bibrachial dystonia; mean (range): age 48.7 (25-72) years, disease duration 22.0 (2-40) years, DBS duration 45.5 (6-131) months). Mean BFMDRS-score was 31.7 (4-93) preoperatively and 32.3 (5-101) postoperatively. Half of the patients (n = 11) had poor lead positioning alone or in combination with other problems (combined with: other disease n = 6, functional dystonia n = 1, other problems n = 2). Other problems were disease other than isolated inherited or idiopathic dystonia (n = 5), fixed deformities (n = 2), functional dystonia (n = 3), and other causes (n = 1). Excluding patients with poor lead location from further analysis, non-isolated dystonia accounted for 45.5%, functional dystonia for 27.3%, and fixed deformities for 18.2%. In patients with true isolated dystonia, lead location was the most frequent problem. After exclusion of lead placement and stimulation programming issues, non-isolated dystonia, functional dystonia and fixed deformities account for the majority of GPi-DBS failures in dystonia. Copyright © 2017 The Authors. Published by Elsevier Ltd.. All rights reserved.

[Focal dystonia in musicians: Phenomenology and musical triggering factors].

PubMed

Aránguiz, R; Chana-Cuevas, P; Alburquerque, D; Curinao, X

2015-06-01

Dystonias are defined as a joint sustained and involuntary contraction of agonist and antagonist muscles, which can cause torsion, repetitive abnormal involuntary movements, and/or abnormal postures. One special group of dystonias are those known as occupational, which include dystonia disorders triggered by a repetitive motor activity associated with a specific professional activity or task. Musicians are a population particularly vulnerable to these types of dystonia, which are presented as a loss of coordination and voluntary motor control movements highly trained in musical interpretation. Our aim is to describe a clinical series of focal dystonias in musicians evaluated and treated in our centre. Data is presented on a clinical series of 12 musicians with occupational dystonia. Their history and phenomenology are described, as well as well as their outcome after therapy. Demographic details: Mean age 34.8 ± 11.8 years, 10 males (83.3%) and 2 females (16.7%). History of trauma in dystonic segment, 6 patients (50%); family history of neurological diseases in first-degree relatives, 6 patients (50%); occupational history according to music category, 8 patients (66.6%) were classical musicians and 4 patients (33.3%) were popular musicians. The dystonia syndrome was characterised by having a mean age of onset of 28.2 ± 11.3 years (range 18-57 years). The segment affected was the hand (91.7%) in 11 patients. Of all the musicians seen in the clinic, 9 of them (75%) received therapy. The majority of patients appeared to have triggering factors specific to musical execution and linked to the requirement of fine motor control. It should be mentioned that 50% of the musicians treated maintained their professional activity or position in the orchestra to which they belonged. The majority of our phenomenological findings are consistent with those reported in the current literature. However, it is worth mentioning the presence of triggering factors attributed to the

Tremor in dystonia.

PubMed

Pandey, Sanjay; Sarma, Neelav

2016-08-01

Tremor has been recognized as an important clinical feature in dystonia. Tremor in dystonia may occur in the body part affected by dystonia known as dystonic tremor or unaffected body regions known as tremor associated with dystonia. The most common type of tremor seen in dystonia patients is postural and kinetic which may be mistaken for familial essential tremor. Similarly familial essential tremor patients may have associated dystonia leading to diagnostic uncertainties. The pathogenesis of tremor in dystonia remains speculative, but its neurophysiological features are similar to dystonia which helps in differentiating it from essential tremor patients. Treatment of tremor in dystonia depends upon the site of involvement. Dystonic hand tremor is treated with oral pharmacological therapy and dystonic head, jaw and voice tremor is treated with injection botulinum toxin. Neurosurgical interventions such as deep brain stimulation and lesion surgery should be an option in patients not responding to the pharmacological treatment. Copyright © 2016 Elsevier Ltd. All rights reserved.

Age-Related Sexual Dimorphism in Temporal Discrimination and in Adult-Onset Dystonia Suggests GABAergic Mechanisms.

PubMed

Butler, John S; Beiser, Ines M; Williams, Laura; McGovern, Eavan; Molloy, Fiona; Lynch, Tim; Healy, Dan G; Moore, Helena; Walsh, Richard; Reilly, Richard B; O'Riordan, Seán; Walsh, Cathal; Hutchinson, Michael

2015-01-01

Adult-onset isolated focal dystonia (AOIFD) presenting in early adult life is more frequent in men, whereas in middle age it is female predominant. Temporal discrimination, an endophenotype of adult-onset idiopathic isolated focal dystonia, shows evidence of sexual dimorphism in healthy participants. We assessed the distinctive features of age-related sexual dimorphism of (i) sex ratios in dystonia phenotypes and (ii) sexual dimorphism in temporal discrimination in unaffected relatives of cervical dystonia patients. We performed (i) a meta-regression analysis of the proportion of men in published cohorts of phenotypes of adult-onset dystonia in relation to their mean age of onset and (ii) an analysis of temporal discrimination thresholds in 220 unaffected first-degree relatives (125 women) of cervical dystonia patients. In 53 studies of dystonia phenotypes, the proportion of men showed a highly significant negative association with mean age of onset (p < 0.0001, pseudo-R (2) = 59.6%), with increasing female predominance from 40 years of age. Age of onset and phenotype together explained 92.8% of the variance in proportion of men. Temporal discrimination in relatives under the age of 35 years is faster in women than men but the age-related rate of deterioration in women is twice that of men; after 45 years of age, men have faster temporal discrimination than women. Temporal discrimination in unaffected relatives of cervical dystonia patients and sex ratios in adult-onset dystonia phenotypes show similar patterns of age-related sexual dimorphism. Such age-related sexual dimorphism in temporal discrimination and adult-onset focal dystonia may reflect common underlying mechanisms. Cerebral GABA levels have been reported to show similar age-related sexual dimorphism in healthy participants and may be the mechanism underlying the observed age-related sexual dimorphism in temporal discrimination and the sex ratios in AOIFD.

Art and dystonia.

PubMed

Garcia-Ruiz, Pedro J; Slawek, Jaroslaw; Sitek, Emilia J; Martinez Castrillo, Juan Carlos

2015-09-15

Dystonia has a recent history in medicine. Focal dystonia was described in the 19th century by classic authors including Gowers, whilst generalized dystonia was described at the turn of the century. However, it is possible to find precise descriptions of dystonia in art, centuries before the medical definition. We have reviewed several pieces of art (sculpture, painting and literature) across the history that might represent descriptions of dystonia, from ancient period to nowadays. In classic times, the first reference to abnormal postures can be tracked back to the new Empire of Egypt (equinus foot), not to mention some recently described examples of dystonia from the Moche sculptures in Peru or Veracruz culture from Mexico. In Middle Ages it is possible to find many examples of sculptures in European cathedrals representing peasants with dramatic, presumably dystonic postures that coexist with amputation of limbs. This unique combination of dystonia and limb amputation probably represents ergotism. The painters Brueghel, Ribera and Velazquez also represented figures with postures likely to be dystonic. Literature is also a source of precise pre-neurological descriptions, especially during the 19th century. In David Copperfield, Dickens depicts characters with generalized dystonia (Uriah Heep), cervical dystonia (Mr. Sharp) and spasmodic dysphonia (Mr Creakle). Finally, even in modern Art (19th and 20th centuries), there are dramatic descriptions of abnormal postures that are likely to be dystonic, such as painful cervical dystonia (Brancusi), cervical dystonia with sensory trick (Modigliani) and upper limb dystonia (Wyspianski). However some postures presented in works of art may simply be a form of artistic expression and only bear unintentional resemblance to the dystonic postures. Art may be a source of neurological information, and that includes primary and secondary dystonia. Copyright © 2015 Elsevier B.V. All rights reserved.

Dysgraphia as a Mild Expression of Dystonia in Children with Absence Epilepsy

PubMed Central

Guerrini, Renzo; Melani, Federico; Brancati, Claudia; Ferrari, Anna Rita; Brovedani, Paola; Biggeri, Annibale; Grisotto, Laura; Pellacani, Simona

2015-01-01

Background Absence epilepsy (AE) is etiologically heterogeneous and has at times been associated with idiopathic dystonia. Objectives Based on the clinical observation that children with AE often exhibit, interictally, a disorder resembling writer’s cramp but fully definable as dysgraphia, we tested the hypothesis that in this particular population dysgraphia would represent a subtle expression of dystonia. Methods We ascertained the prevalence of dysgraphia in 82 children with AE (mean age 9.7) and average intelligence and compared them with 89 age-, gender- and class-matched healthy children (mean age 10.57) using tests for handwriting fluency and quality, based on which we divided patients and controls into four subgroups: AE/dysgraphia, AE without dysgraphia, controls with dysgraphia and healthy controls. We compared the blink reflex recovery cycle in children belonging to all four subgroups. Results We identified dysgraphia in 17/82 children with AE and in 7/89 controls (20.7 vs 7.8%; P = 0.016) with the former having a 3.4-times higher risk of dysgraphia regardless of age and gender (odd ratio: 3.49; 95% CI 1.2, 8.8%). The AE/dysgraphia subgroup performed worse than controls with dysgraphia in one test of handwriting fluency (P = 0.037) and in most trials testing handwriting quality (P< 0.02). In children with AE/dysgraphia the blink reflex showed no suppression at short interstimulus intervals, with a difference for each value emerging when comparing the study group with the three remaining subgroups (P<0.001). Conclusions In children with AE, dysgraphia is highly prevalent and has a homogeneous, distinctive pathophysiological substrate consistent with idiopathic dystonia. PMID:26132164

Case report: Physical therapy management of axial dystonia.

PubMed

Voos, Mariana Callil; Oliveira, Tatiana de Paula; Piemonte, Maria Elisa Pimentel; Barbosa, Egberto Reis

2014-01-01

Few studies have described physical therapy approaches to provide functional independence and reduce pain in individuals with dystonia. This report describes the physical therapy treatment of a 46-year-old woman diagnosed with idiopathic segmental axial dystonia. For two years, the patient was treated with kinesiotherapy (active and resisted movements and stretching of neck and trunk muscles), abdominal taping (kinesiotaping techniques), functional training, and sensory tricks. She was assessed with parts I, II and III of Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS-I, TWSTRS-II and TWSTRS-III), Berg Balance Scale (BBS), Six-Minute Walk Test (6-MWT), and the motor domain of Functional Independence Measure (FIM-motor) before and after the two-year treatment and after the one year follow-up. Postural control and symmetry improved (TWSTRS-I: from 30 to 18), functional independence increased (TWSTRS-II: from 27 to 15; BBS: from 36 to 46; 6-MWT: from 0 to 480 meters (m); FIM-motor: from 59 to 81), and the pain diminished (TWSTRS-III: from 12 to 5). The functional improvement was retained after one year (TWSTRS-I: 14/35; TWRTRS-II: 12/30; TWRTRS-III: 5/20; BBS: 48/56; 6-MWT: 450 m; FIM-motor: 81/91). This program showed efficacy on providing a better control of the dystonic muscles and thus the doses of botulinum toxin needed to treat them could be reduced. Outcomes support the therapeutic strategies used to deal with this type of dystonia.

Modulation of the Muscle Activity During Sleep in Cervical Dystonia.

PubMed

Antelmi, Elena; Ferri, Raffaele; Provini, Federica; Scaglione, Cesa M L; Mignani, Francesco; Rundo, Francesco; Vandi, Stefano; Fabbri, Margherita; Pizza, Fabio; Plazzi, Giuseppe; Martinelli, Paolo; Liguori, Rocco

2017-07-01

Impaired sleep has been reported as an important nonmotor feature in dystonia, but so far, self-reported complaints have never been compared with nocturnal video-polysomnographic (PSG) recording, which is the gold standard to assess sleep-related disorders. Twenty patients with idiopathic isolated cervical dystonia and 22 healthy controls (HC) underwent extensive clinical investigations, neurological examination, and questionnaire screening for excessive daytime sleepiness and sleep-related disorders. A full-night video PSG was performed in both patients and HC. An ad hoc montage, adding electromyographic leads over the muscle affected with dystonia, was used. When compared to controls, patients showed significantly increased pathological values on the scale assessing self-reported complaints of impaired nocturnal sleep. Higher scores of impaired nocturnal sleep did not correlate with any clinical descriptors but for a weak correlation with higher scores on the scale for depression. On video-PSG, patients had significantly affected sleep architecture (with decreased sleep efficiency and increased sleep latency). Activity over cervical muscles disappears during all the sleep stages, reaching significantly decreased values when compared to controls both in nonrapid eye movements and rapid eye movements sleep. Patients with cervical dystonia reported poor sleep quality and showed impaired sleep architecture. These features however cannot be related to the persistence of muscle activity over the cervical muscles, which disappears in all the sleep stages, reaching significantly decreased values when compared to HC. © Sleep Research Society 2017. Published by Oxford University Press on behalf of the Sleep Research Society. All rights reserved. For permissions, please e-mail journals.permissions@oup.com.

How Many Dystonias? Clinical Evidence.

PubMed

Albanese, Alberto

2017-01-01

Literary reports on dystonia date back to post-Medieval times. Medical reports are instead more recent. We review here the early descriptions and the historical establishment of a consensus on the clinical phenomenology and the diagnostic features of dystonia syndromes. Lumping and splitting exercises have characterized this area of knowledge, and it remains largely unclear how many dystonia types we are to count. This review describes the history leading to recognize that focal dystonia syndromes are a coherent clinical set encompassing cranial dystonia (including blepharospasm), oromandibular dystonia, spasmodic torticollis, truncal dystonia, writer's cramp, and other occupational dystonias. Papers describing features of dystonia and diagnostic criteria are critically analyzed and put into historical perspective. Issues and inconsistencies in this lumping effort are discussed, and the currently unmet needs are critically reviewed.

Different mechanisms may generate sustained hypertonic and rhythmic bursting muscle activity in idiopathic dystonia.

PubMed

Liu, Xuguang; Yianni, John; Wang, Shouyan; Bain, Peter G; Stein, John F; Aziz, Tipu Z

2006-03-01

Despite that deep brain stimulation (DBS) of the globus pallidus internus (GPi) is emerging as the favored intervention for patients with medically intractable dystonia, the pathophysiological mechanisms of dystonia are largely unclear. In eight patients with primary dystonia who were treated with bilateral chronic pallidal stimulation, we correlated symptom-related electromyogram (EMG) activity of the most affected muscles with the local field potentials (LFPs) recorded from the globus pallidus electrodes. In 5 dystonic patients with mobile involuntary movements, rhythmic EMG bursts in the contralateral muscles were coherent with the oscillations in the pallidal LFPs at the burst frequency. In contrast, no significant coherence was seen between EMG and LFPs either for the sustained activity separated out from the compound EMGs in those 5 cases, or in the EMGs in 3 other cases without mobile involuntary movements and rhythmic EMG bursts. In comparison with the resting condition, in both active and passive movements, significant modulation in the GPi LFPs was seen in the range of 8-16 Hz. The finding of significant coherence between GPi oscillations and rhythmic EMG bursts but not sustained tonic EMG activity suggests that the synchronized pallidal activity may be directly related to the rhythmic involuntary movements. In contrast, the sustained hypertonic muscle activity may be represented by less synchronized activity in the pallidum. Thus, the pallidum may play different roles in generating different components of the dystonic symptom complex.

Task-specific Dystonias

PubMed Central

Torres-Russotto, Diego; Perlmutter, Joel S.

2009-01-01

Task-specific dystonias are primary focal dystonias characterized by excessive muscle contractions producing abnormal postures during selective motor activities that often involve highly skilled, repetitive movements. Historically these peculiar postures were considered psychogenic but have now been classified as forms of dystonia. Writer’s cramp is the most commonly identified task-specific dystonia and has features typical of this group of disorders. Symptoms may begin with lack of dexterity during performance of a specific motor task with increasingly abnormal posturing of the involved body part as motor activity continues. Initially, the dystonia may manifest only during the performance of the inciting task, but as the condition progresses it may also occur during other activities or even at rest. Neurological exam is usually unremarkable except for the dystonia-related abnormalities. Although the precise pathophysiology remains unclear, increasing evidence suggests reduced inhibition at different levels of the sensorimotor system. Symptomatic treatment options include oral medications, botulinum toxin injections, neurosurgical procedures, and adaptive strategies. Prognosis may vary depending upon body part involved and specific type of task affected. Further research may reveal new insights into the etiology, pathophysiology, natural history, and improved treatment of these conditions. PMID:18990127

Table tennis dystonia.

PubMed

Le Floch, Anne; Vidailhet, Marie; Flamand-Rouvière, Constance; Grabli, David; Mayer, Jean-Michel; Gonce, Michel; Broussolle, Emmanuel; Roze, Emmanuel

2010-02-15

Focal task-specific dystonia (FTSD) occurs exclusively during a specific activity that usually involves a highly skilled movement. Classical FTSD dystonias include writer's cramp and musician's dystonia. Few cases of sport-related dystonia have been reported. We describe the first four cases of FTSD related to table tennis (TT), two involving professional international competitors. We also systematically analyzed the literature for reports of sport-related dystonia including detailed clinical descriptions. We collected a total of 13 cases of sport-related dystonia, including our four TT players. Before onset, all the patients had trained for many years, for a large number of hours per week. Practice time had frequently increased significantly in the year preceding onset. As TT is characterized by highly skilled hand/forearm movements acquired through repetitive exercises, it may carry a higher risk of FTSD than other sports. Intensive training may result in maladaptive responses and overwhelm homeostatic mechanisms that regulate cortical plasticity in vulnerable individuals. Our findings support the importance of environmental risk factors in sport-related FTSD, as also suggested in classical FTSD, and have important implications for clinical practice. (c) 2010 Movement Disorder Society.

Successful treatment of open jaw and jaw deviation dystonia with botulinum toxin using a simple intraoral approach.

PubMed

Moscovich, Mariana; Chen, Zhongxing Peng; Rodriguez, Ramon

2015-03-01

Oromandibular dystonia (OMD) is a focal dystonia that involves the mouth, jaw, and/or tongue. It can be classified as idiopathic, tardive dystonia or secondary to other neurological disorders and subdivided into jaw opening, jaw closing, jaw deviation and lip pursing. The muscles involved in jaw opening dystonia are usually the digastrics and lateral pterygoids. It is known that the lateral pterygoids may be approached both internally and externally. The external approach is the most common; however neurologists experienced in treating patients with botulinum toxin can safely and with no extra cost perform the intraoral procedure. We report our experience in the treatment of jaw opening and jaw deviation dystonia using the intraoral injection approach. Eight patients were selected from the University of Florida with a clinical diagnosis of open jaw/jaw deviation dystonia. All of them were injected with onabotulinum toxin A using the internal approach and the clinical global impression scale was applied. The mean age of the patients was 67 (standard deviation [SD] 10.2) years, with a disease duration of 10.2 (SD 7.7) years and the mean distance they traveled to our institution was 448 km (278 miles). After treatment, six patients scored as very much improved in the clinical global impression scale and two patients scored as much improved. Only one patient reported an adverse event of nasal speech following one of the injections that improved after 4 weeks. Botulinum toxin injections for open jaw/jaw deviation dystonia can be safely performed with the intraoral approach without the need of special devices other than electromyography. Copyright © 2014 Elsevier Ltd. All rights reserved.

Dystonia rating scales: critique and recommendations

PubMed Central

Albanese, Alberto; Sorbo, Francesca Del; Comella, Cynthia; Jinnah, H.A.; Mink, Jonathan W.; Post, Bart; Vidailhet, Marie; Volkmann, Jens; Warner, Thomas T.; Leentjens, Albert F.G.; Martinez-Martin, Pablo; Stebbins, Glenn T.; Goetz, Christopher G.; Schrag, Anette

2014-01-01

Background Many rating scales have been applied to the evaluation of dystonia, but only few have been assessed for clinimetric properties. The Movement Disorders Society commissioned this task force to critique existing dystonia rating scales and place them in the clinical and clinimetric context. Methods A systematic literature review was conducted to identify rating scales that have either been validated or used in dystonia. Results Thirty six potential scales were identified. Eight were excluded because they did not meet review criteria, leaving twenty-eight scales that were critiqued and rated by the task force. Seven scales were found to meet criteria to be “recommended”: the Blepharospasm Disability Index is recommended for rating blepharospasm; the Cervical Dystonia Impact Scale and the Toronto Western Spasmodic Torticollis Rating Scale for rating cervical dystonia; the Craniocervical Dystonia Questionnaire for blepharospasm and cervical dystonia; the Voice Handicap Index (VHI) and the Vocal Performance Questionnaire (VPQ) for laryngeal dystonia; and the Fahn-Marsden Dystonia Rating Scale for rating generalized dystonia. Two “recommended” scales (VHI and VPQ) are generic scales validated on few patients with laryngeal dystonia, whereas the others are disease-specific scales. Twelve scales met criteria for “suggested” and seven scales met criteria for “listed”. All the scales are individually reviewed in the online appendix. Conclusion The task force recommends five specific dystonia scales and suggests to further validate in dystonia two recommended generic voice-disorder scales. Existing scales for oromandibular, arm and task-specific dystonia should be refined and fully assessed. Scales should be developed for body regions where no scales are available, such as lower limbs and trunk. PMID:23893443

The neurophysiological features of myoclonus-dystonia and differentiation from other dystonias.

PubMed

Popa, Traian; Milani, Paolo; Richard, Aliénor; Hubsch, Cécile; Brochard, Vanessa; Tranchant, Christine; Sadnicka, Anna; Rothwell, John; Vidailhet, Marie; Meunier, Sabine; Roze, Emmanuel

2014-05-01

Myoclonus-dystonia (M-D) is a clinical syndrome characterized by a combination of myoclonic jerks and mild to moderate dystonia. The syndrome is related to ε-sarcoglycan (SGCE) gene mutations in about half the typical cases. Whether the M-D phenotype reflects a primary dysfunction of the cerebellothalamocortical pathway or of the striatopallidothalamocortical pathway is unclear. The exact role of an additional cortical dysfunction in the pathogenesis of M-D is also unknown. To clarify the neurophysiological features of M-D and discuss whether M-D due to SGCE deficiency differs from other primary dystonias. We studied a referred sample of 12 patients with M-D (mean [SD] age, 28.8 [6.2] years; age range, 19-38 years; 5 women) belonging to 11 unrelated families with a proven mutation or deletion of the SGCE gene and a group of 12 age- and sex-matched healthy control individuals. Every participant underwent 3 sessions exploring the excitability of the primary motor cortex, the response of the primary motor cortex to a plasticity-inducing protocol, and the cerebellar-dependent eye-blink classic conditioning (EBCC). The clinical evaluation of patients included the Unified Myoclonus Rating Scale and Burke-Fahn-Marsden Dystonia Rating Scale. Myoclonus-dystonia with a proven SGCE mutation. We measured resting and active motor thresholds, and short-interval intracortical inhibition and facilitation. The plasticity of the motor cortex was evaluated before and for 30 minutes after 600 pulses of rapid paired associative stimulation. The cerebellar functioning was evaluated with the number of conditioned responses during the 6 blocks of EBCC and 1 extinction block. All data were compared between the 2 groups. For patients, correlations were explored between electrophysiological data and clinical scores. We found lower membrane excitability of the corticocortical axons and normal intracortical γ-aminobutyric acid inhibition in contrast with what has been described in other

Genetics Home Reference: dystonia 6

MedlinePlus

... neck, causing problems with speaking (dysarthria) and eating (dysphagia). Eyelid twitching (blepharospasm) may also occur. Involvement of ... dystonia, DYT6 type The Bachmann-Strauss Dystonia and Parkinson Foundation: What Is Dystonia? Patient Support and Advocacy ...

Surgery for Dystonia and Tremor.

PubMed

Crowell, Jason L; Shah, Binit B

2016-03-01

Surgical procedures for dystonia and tremor have evolved over the past few decades, and our understanding of risk, benefit, and predictive factors has increased substantially in that time. Deep brain stimulation (DBS) is the most utilized surgical treatment for dystonia and tremor, though lesioning remains an effective option in appropriate patients. Dystonic syndromes that have shown a substantial reduction in severity secondary to DBS are isolated dystonia, including generalized, cervical, and segmental, as well as acquired dystonia such as tardive dystonia. Essential tremor is quite amenable to DBS, though the response of other forms of postural and kinetic tremor is not nearly as robust or consistent based on available evidence. Regarding targeting, DBS lead placement in the globus pallidus internus has shown marked efficacy in dystonia reduction. The subthalamic nucleus is an emerging target, and increasing evidence suggests that this may be a viable target in dystonia as well. The ventralis intermedius nucleus of the thalamus is the preferred target for essential tremor, though targeting the subthalamic zone/caudal zona incerta has shown promise and may emerge as another option in essential tremor and possibly other tremor disorders. In the carefully selected patient, DBS and lesioning procedures are relatively safe and effective for the management of dystonia and tremor.

Familial dopa-responsive cervical dystonia.

PubMed

Schneider, S A; Mohire, M D; Trender-Gerhard, I; Asmus, F; Sweeney, M; Davis, M; Gasser, T; Wood, N W; Bhatia, K P

2006-02-28

The authors present four cases from two unrelated families with young-onset predominant cervical dystonia with a dramatic sustained response to levodopa. Onset age was 12 years (range 9 to 15). Additional symptoms included postural hand tremor and laryngeal dystonia. Genetic testing for GTP cyclohydrolase I, tyrosine hydroxylase, and sepiapterin reductase was negative. These cases may represent new forms of dopa-responsive dystonia. Levodopa is advisable in all patients with young-onset cervical dystonia.

Dystonia and Paroxysmal Dyskinesias: Under-Recognized Movement Disorders in Domestic Animals? A Comparison with Human Dystonia/Paroxysmal Dyskinesias

PubMed Central

Richter, Angelika; Hamann, Melanie; Wissel, Jörg; Volk, Holger A.

2015-01-01

Dystonia is defined as a neurological syndrome characterized by involuntary sustained or intermittent muscle contractions causing twisting, often repetitive movements, and postures. Paroxysmal dyskinesias are episodic movement disorders encompassing dystonia, chorea, athetosis, and ballism in conscious individuals. Several decades of research have enhanced the understanding of the etiology of human dystonia and dyskinesias that are associated with dystonia, but the pathophysiology remains largely unknown. The spontaneous occurrence of hereditary dystonia and paroxysmal dyskinesia is well documented in rodents used as animal models in basic dystonia research. Several hyperkinetic movement disorders, described in dogs, horses and cattle, show similarities to these human movement disorders. Although dystonia is regarded as the third most common movement disorder in humans, it is often misdiagnosed because of the heterogeneity of etiology and clinical presentation. Since these conditions are poorly known in veterinary practice, their prevalence may be underestimated in veterinary medicine. In order to attract attention to these movement disorders, i.e., dystonia and paroxysmal dyskinesias associated with dystonia, and to enhance interest in translational research, this review gives a brief overview of the current literature regarding dystonia/paroxysmal dyskinesia in humans and summarizes similar hereditary movement disorders reported in domestic animals. PMID:26664992

Dystonia and Paroxysmal Dyskinesias: Under-Recognized Movement Disorders in Domestic Animals? A Comparison with Human Dystonia/Paroxysmal Dyskinesias.

PubMed

Richter, Angelika; Hamann, Melanie; Wissel, Jörg; Volk, Holger A

2015-01-01

Dystonia is defined as a neurological syndrome characterized by involuntary sustained or intermittent muscle contractions causing twisting, often repetitive movements, and postures. Paroxysmal dyskinesias are episodic movement disorders encompassing dystonia, chorea, athetosis, and ballism in conscious individuals. Several decades of research have enhanced the understanding of the etiology of human dystonia and dyskinesias that are associated with dystonia, but the pathophysiology remains largely unknown. The spontaneous occurrence of hereditary dystonia and paroxysmal dyskinesia is well documented in rodents used as animal models in basic dystonia research. Several hyperkinetic movement disorders, described in dogs, horses and cattle, show similarities to these human movement disorders. Although dystonia is regarded as the third most common movement disorder in humans, it is often misdiagnosed because of the heterogeneity of etiology and clinical presentation. Since these conditions are poorly known in veterinary practice, their prevalence may be underestimated in veterinary medicine. In order to attract attention to these movement disorders, i.e., dystonia and paroxysmal dyskinesias associated with dystonia, and to enhance interest in translational research, this review gives a brief overview of the current literature regarding dystonia/paroxysmal dyskinesia in humans and summarizes similar hereditary movement disorders reported in domestic animals.

Treatment strategies for dystonia

PubMed Central

Cloud, Leslie J; Jinnah, HA

2012-01-01

Importance of the field Dystonia is a neurological syndrome characterized by involuntary twisting movements and unnatural postures. It has many different manifestations and causes, and many different treatment options are available. These options include physical and occupational therapy, oral medications, intramuscular injection of botulinum toxins, and neurosurgical interventions. Areas covered in this review In this review, we first summarize the treatment options available, then we provide suggestions from our own experience for how these can be applied in different types of dystonia. In preparing this review article, an extensive literature search was undertaken using PubMed. Only selected references from 1970 to 2008 are cited. What the reader will gain This review is intended to provide the clinician with a practical guide to the treatment of dystonia. Take home message Treatment of dystonia begins with proper diagnosis and classification, followed by an appropriate search for underlying etiology, and an assessment of the functional impairment associated with the dystonia. The therapeutic approach, which is usually limited to symptomatic therapy, must then be tailored to the individual needs of the patient. PMID:20001425

Genetics Home Reference: hypermanganesemia with dystonia

MedlinePlus

... of hypermanganesemia with dystonia , called hypermanganesemia with dystonia , polycythemia, and cirrhosis (HMDPC) and hypermanganesemia with dystonia 2, ... have an increased number of red blood cells (polycythemia) and low levels of iron stored in the ...

Cervical Dystonia (Spasmodic Torticollis)

MedlinePlus

... Many people who have cervical dystonia also experience neck pain that can radiate into the shoulders. The disorder also can cause headaches. In some people, the pain from cervical dystonia can be exhausting and disabling. Causes In ...

Markedly severe dystonia in Japanese encephalitis.

PubMed

Kalita, J; Misra, U K

2000-11-01

Encephalitis has been reported to be a rare cause of severe dystonia. We describe five patients with markedly severe dystonia from Japanese encephalitis. These patients with markedly severe dystonia were seen during the past 8 years as a subgroup of 50 patients with Japanese encephalitis. The diagnosis of markedly severe dystonia was based on increasingly frequent episodes of generalized dystonia with bulbar, respiratory, or metabolic derangement or leading to exhaustion or pain. The diagnosis of JE was based on clinicoradiologic features and a fourfold increase of hemagglutination-inhibiting antibody titers in paired serum. The outcome of the patients was defined as a good, partial, or poor recovery on the basis of 1-year clinical status. All the patients were males, and their ages ranged from 6 to 19 years. Movement disorders appeared 1 to 3 weeks after the illness as the level of consciousness started improving. During the next 1 to 4 weeks, patients began to experience markedly severe dystonia. It was associated with marked axial dystonia resulting in opisthotonus and retrocollis in five patients, jaw-opening dystonia in two patients, teeth clenching in one patient, and oculogyric crisis and neck deviation in another patient. The attacks of markedly severe dystonia lasted for 2 to 30 minutes and occurred as many as 20 to 30 times daily. Other developments included fixed limb dystonia in one patient, severe spasticity and rigidity in five patients, and focal muscle wasting in one patient. These patients had only a modest improvement after treatment. Markedly severe dystonia abated by 2 to 6 months in all the patients who were followed up. Cranial magnetic resonance imaging showed bilateral thalamic involvement in all patients, brainstem involvement in three patients, and basal ganglia involvement in two patients. At the 3-month follow-up, all patients had a poor outcome. At 1 year, one patient had a complete recovery; one had a partial recovery; and two were

Embouchure dystonia--Portrait of a task-specific cranial dystonia.

PubMed

Frucht, Steven J

2009-09-15

Focal task-specific dystonia (FTSD) is an unusual disorder of motor control, which typically affects the hand but may also involve the face, jaw, and tongue. We report 89 musicians with dystonia of the embouchure (ED), the muscles of the lower face, jaw, and tongue used to control the flow of air into the mouthpiece of a woodwind or brass instrument. Symptoms of ED began at an average age of 36, were typically painless and only rarely were preceded by trauma. Specific musical techniques commonly triggered dystonia, often in one instrumental register. Task-specific embouchure tremor and lip-pulling ED phenotypes were common among high-register brass players (trumpet and French horn), whereas lip-locking occurred exclusively in low-register brass players (trombone and tuba). Jaw and tongue ED phenotypes occurred predominantly in woodwind players, and once present, frequently spread to speaking or eating. Six percent of all ED patients had coincident writer's cramp, suggesting a possible genetic predisposition to develop dystonia. We assessed two-point sensory discrimination in the upper lip, lower lip, and hand in ED patients, normal musicians, and nonmusician age-matched controls--there were no differences between groups. Once present, symptoms of ED did not remit and often disrupted careers and livelihoods. Better treatments are urgently needed for this unusual disorder of oral motor control.

Recent Advances in the Genetics of Dystonia

PubMed Central

Xiao, Jianfeng; Vemula, Satya R.

2016-01-01

Dystonia, a common and genetically heterogeneous neurological disorder, was recently defined as “a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both.” Via the application of whole-exome sequencing, the genetic landscape of dystonia and closely related movement disorders is becoming exposed. In particular, several “novel” genetic causes have been causally associated with dystonia or dystonia-related disorders over the past 2 years. These genes include PRRT2 (DYT10), CIZ1 (DYT23), ANO3 (DYT24), GNAL (DYT25), and TUBB4A (DYT4). Despite these advances, major gaps remain in identifying the genetic origins for most cases of adult-onset isolated dystonia. Furthermore, model systems are needed to study the biology of PRRT2, CIZ1, ANO3, Gαolf, and TUBB4A in the context of dystonia. This review focuses on these recent additions to the family of dystonia genes, genotype-phenotype correlations, and possible cellular contributions of the encoded proteins to the development of dystonia. PMID:24952478

Abnormal nuclear envelopes in the striatum and motor deficits in DYT11 myoclonus-dystonia mouse models.

PubMed

Yokoi, Fumiaki; Dang, Mai T; Zhou, Tong; Li, Yuqing

2012-02-15

DYT11 myoclonus-dystonia (M-D) is a movement disorder characterized by myoclonic jerks with dystonic symptoms and caused by mutations in paternally expressed SGCE, which codes for ε-sarcoglycan. Paternally inherited Sgce heterozygous knock-out (KO) mice exhibit motor deficits and spontaneous myoclonus. Abnormal nuclear envelopes have been reported in cellular and mouse models of early-onset DYT1 generalized torsion dystonia; however, the relationship between the abnormal nuclear envelopes and motor symptoms are not clear. Furthermore, it is not known whether abnormal nuclear envelope exists in non-DYT1 dystonia. In the present study, abnormal nuclear envelopes in the striatal medium spiny neurons (MSNs) were found in Sgce KO mice. To analyze whether the loss of ε-sarcoglycan in the striatum alone causes abnormal nuclear envelopes, motor deficits or myoclonus, we produced paternally inherited striatum-specific Sgce conditional KO (Sgce sKO) mice and analyzed their phenotypes. Sgce sKO mice exhibited motor deficits in both beam-walking and accelerated rotarod tests, while they did not exhibit abnormal nuclear envelopes, alteration in locomotion, or myoclonus. The results suggest that the loss of ε-sarcoglycan in the striatum contributes to motor deficits, while it alone does not produce abnormal nuclear envelopes or myoclonus. Development of therapies targeting the striatum to compensate for the loss of ε-sarcoglycan function may rescue the motor deficits in DYT11 M-D patients.

Psychiatric co-morbidity is highly prevalent in idiopathic cervical dystonia and significantly influences health-related quality of life: Results of a controlled study.

PubMed

Smit, M; Kuiper, A; Han, V; Jiawan, V C R; Douma, G; van Harten, B; Oen, J M T H; Pouwels, M E; Dieks, H J G; Bartels, A L; Tijssen, M A

2016-09-01

The aim of this study was to systematically investigate the prevalence of psychiatric disorders and factors influencing health-related quality of life (HR-QoL) in cervical dystonia (CD) patients, in the context of objective dystonia motor severity. We studied 50 CD patients and 50 matched healthy controls. Psychiatric assessment included the MINI-PLUS interview and quantitative questionnaires. Dystonia motor severity (based on video evaluation), pain and disability were determined with the TWSTRS rating scale. In addition, severity of tremor and jerks was evaluated with the 7-point CGI-S scale. HR-QoL was determined with the RAND-36 item Health Survey and predictors of HR-QoL were assessed using multiple regression analysis. In CD patients, the MINI-PLUS revealed a significantly higher prevalence of psychiatric disorders (64% vs. 28%, p = 0.001), with substantially more depression (32% vs. 14%) and anxiety disorders (42% vs. 8%). This was confirmed by the quantitative rating scales. Disease characteristics did not differ between patients with and without a psychiatric diagnosis. HR-QoL in dystonia patients was significantly lowered. The most important predictors of HR-QoL appeared severity of depressive symptoms, pain and disability, but not severity of motor symptoms. Psychiatric co-morbidity is highly prevalent and is an important predictor of HR-QoL in CD patients, rather than dystonia motor severity. Our findings support the theory of a shared neurobiology for motor and non-motor features and highlight the need for systematic research into psychiatric disorders in dystonia. Adequate treatment of psychiatric symptoms could significantly contribute to better overall quality of life of CD patients. Copyright © 2016 Elsevier Ltd. All rights reserved.

Dystonia

MedlinePlus

... advocacy groups, as well as private sector pharmaceutical companies. This extensive cooperation will greatly facilitate research because there are many types of dystonia, often seen by different subspecialists, and ...

A case of Parkinson's disease following dystonia.

PubMed

Yasuda, Chiharu; Takei, Takanobu; Uozumi, Takenori; Toyota, Tomoko; Yuhi, Tomoaki; Adachi, Hiroaki

2016-09-29

Parkinsonism and dystonia are both disorders of the extrapyramidal motor system, and some patients exhibit a complex of the two symptoms. Although several reports have referred to the coexistence of these disorders as parkinsonian disorders with dystonia, in the majority of cases, dystonia appeared after parkinsonism. DAT-scan is useful for the early diagnosis of Parkinson's disease (PD) and other types of parkinsonism such as dementia with Lewy bodies. This case report describes a 67-year old woman diagnosed with axial dystonia without parkinsonism 6 years previously, which had worsened despite treatment with Botulinum toxin injections, and hindered the patient's gait. The patient visited the hospital because of gait disturbances and DAT-scan showed a levodopa transducer decrease in the putamen. A few weeks later, she was re-admitted to hospital and exhibited Parkinsonism. Levodopa improved the gait disturbances but axial dystonia was unchanged, and a clinical diagnosis of PD was made. In the authors' opinion, this was a rare case of parkinsonian disorders with dystonia, characterized by the development of PD after dystonia. DAT-scan may be helpful for the diagnosis of patients with parkinsonian disorders with dystonia.

Dystonia: an update on phenomenology, classification, pathogenesis and treatment.

PubMed

Balint, Bettina; Bhatia, Kailash P

2014-08-01

This article will highlight recent advances in dystonia with focus on clinical aspects such as the new classification, syndromic approach, new gene discoveries and genotype-phenotype correlations. Broadening of phenotype of some of the previously described hereditary dystonias and environmental risk factors and trends in treatment will be covered. Based on phenomenology, a new consensus update on the definition, phenomenology and classification of dystonia and a syndromic approach to guide diagnosis have been proposed. Terminology has changed and 'isolated dystonia' is used wherein dystonia is the only motor feature apart from tremor, and the previously called heredodegenerative dystonias and dystonia plus syndromes are now subsumed under 'combined dystonia'. The recently discovered genes ANO3, GNAL and CIZ1 appear not to be a common cause of adult-onset cervical dystonia. Clinical and genetic heterogeneity underlie myoclonus-dystonia, dopa-responsive dystonia and deafness-dystonia syndrome. ALS2 gene mutations are a newly recognized cause for combined dystonia. The phenotypic and genotypic spectra of ATP1A3 mutations have considerably broadened. Two new genome-wide association studies identified new candidate genes. A retrospective analysis suggested complicated vaginal delivery as a modifying risk factor in DYT1. Recent studies confirm lasting therapeutic effects of deep brain stimulation in isolated dystonia, good treatment response in myoclonus-dystonia, and suggest that early treatment correlates with a better outcome. Phenotypic classification continues to be important to recognize particular forms of dystonia and this includes syndromic associations. There are a number of genes underlying isolated or combined dystonia and there will be further new discoveries with the advances in genetic technologies such as exome and whole-genome sequencing. The identification of new genes will facilitate better elucidation of pathogenetic mechanisms and possible corrective

Dystonia: Related and Differential Disorders

MedlinePlus

... respond, too. What is the difference between a Parkinson's disease patient with dystonia and a dystonia patient with Parkinson's symptoms? Parkinson's disease is a neurological movement disorder with a wide ...

Dystonias

MedlinePlus

... or walking some distance—or a worsening in handwriting after writing several lines. In other instances, the ... and sometimes the forearm, and only occurs during handwriting. Similar focal dystonias have also been called typist's ...

Quality of life in patients with craniocervical dystonia: Italian validation of the "Cervical Dystonia Impact Profile (CDIP-58)" and the "Craniocervical Dystonia Questionnaire (CDQ-24)".

PubMed

Fabbri, Margherita; Superbo, Maria; Defazio, Giovanni; Scaglione, Cesa Lorella Maria; Antelmi, Elena; Basini, Giacomo; Nassetti, Stefania; Pizza, Fabio; Plasmati, Rosaria; Liguori, Rocco

2014-07-01

Dystonia is a disabling and disfiguring disorder that can often affect many aspects of patients' daily lives, and lower their self-esteem. To date, quality of life (QoL) has been assessed in dystonic patients using generic measures that do not address the specific problems of this diagnostic group. Recently, two disease-specific scales "The Cervical Dystonia Impact Profile (CDIP-58)" and the "Craniocervical Dystonia Questionnaire (CDQ-24)" were validated for measuring QoL in craniocervical dystonia patients. No disease-specific scales for QoL for dystonic patients are currently available in Italian. The aim of our study was to produce and validate the Italian version of the CDIP-58 and CDQ-24. We obtained the Italian version of CDQ-24 and CDIP-58 with a back-translation design. Both scales were applied to a population of 94 craniocervical dystonia patients along with the Short Form 36 health-survey questionnaire (SF-36), both before and 4 weeks after botulinum toxin therapy. A group of 65 controls matched for sex, age and comorbidity underwent the SF-36. Internal consistency was satisfactory for all subscales. Both the CDIP-58 and CDQ-24 showed moderate to high correlations with similar items of the SF-36. Sensitivity to change was confirmed by highly significant improvements in all CDQ-24 subscales and by moderate improvements in three out of eight CDIP-58 subscales and total score. This is the first Italian study on QoL in dystonia patients. We validated the Italian version of two disease-specific questionnaires to evaluate QoL in craniocervical dystonia patients. These scales could be useful for both clinical practice and clinical trials.

Dystonia: Emotional and Mental Health

MedlinePlus

... Support Frequently Asked Questions Faces of Dystonia Emotional & Mental Health Although dystonia is a movement disorder that impacts ... emotion as well as muscle movement. For years, mental health professionals have recognized that coping with a chronic ...

Recent Developments in Dystonia

PubMed Central

Jinnah, H. A.; Teller, Jan K.; Galpern, Wendy R.

2015-01-01

Purpose of review The dystonias are a family of related disorders with many different clinical manifestations and causes. This review summarizes recent developments regarding these disorders, focusing mainly on advances with direct clinical relevance from the past two years. Recent findings The dystonias are generally defined by their clinical characteristics, rather than by their underlying genetic or neuropathological defects. The many varied clinical manifestations and causes contribute to the fact that they are one of the most poorly recognized of all movement disorders. A series of recent publications has addressed these issues offering a revised definition and more logical means for classifying the many subtypes. Our understanding of the genetic and neurobiological mechanisms responsible for different types of dystonias also has grown rapidly, creating new opportunities and challenges for diagnosis and identifying increasing numbers of rare subtypes for which specific treatments are available. Summary Recent advances in describing the clinical phenotypes and determining associated genotypes have pointed to the need for new strategies for diagnosis, classification and treatment of the dystonias. PMID:26110799

Facial recognition in primary focal dystonia.

PubMed

Rinnerthaler, Martina; Benecke, Cord; Bartha, Lisa; Entner, Tanja; Poewe, Werner; Mueller, Joerg

2006-01-01

The basal ganglia seem to be involved in emotional processing. Primary dystonia is a movement disorder considered to result from basal ganglia dysfunction, and the aim of the present study was to investigate emotion recognition in patients with primary focal dystonia. Thirty-two patients with primary cranial (n=12) and cervical (n=20) dystonia were compared to 32 healthy controls matched for age, sex, and educational level on the facially expressed emotion labeling (FEEL) test, a computer-based tool measuring a person's ability to recognize facially expressed emotions. Patients with cognitive impairment or depression were excluded. None of the patients received medication with a possible cognitive side effect profile and only those with mild to moderate dystonia were included. Patients with primary dystonia showed isolated deficits in the recognition of disgust (P=0.007), while no differences between patients and controls were found with regard to the other emotions (fear, happiness, surprise, sadness, and anger). The findings of the present study add further evidence to the conception that dystonia is not only a motor but a complex basal ganglia disorder including selective emotion recognition disturbances. Copyright (c) 2005 Movement Disorder Society.

Dystonia and Tremor: The Clinical Syndromes with Isolated Tremor

PubMed Central

Albanese, Alberto; Sorbo, Francesca Del

2016-01-01

Background Dystonia and tremor share many commonalities. Isolated tremor is part of the phenomenological spectrum of isolated dystonia and of essential tremor. The occurrence of subtle features of dystonia may allow one to differentiate dystonic tremor from essential tremor. Diagnostic uncertainty is enhanced when no features of dystonia are found in patients with a tremor syndrome, raising the question whether the observed phenomenology is an incomplete form of dystonia. Methods Known forms of syndromes with isolated tremor are reviewed. Diagnostic uncertainties between tremor and dystonia are put into perspective. Results The following isolated tremor syndromes are reviewed: essential tremor, head tremor, voice tremor, jaw tremor, and upper-limb tremor. Their varied phenomenology is analyzed and appraised in the light of a possible relationship with dystonia. Discussion Clinicians making a diagnosis of isolated tremor should remain vigilant for the detection of features of dystonia. This is in keeping with the recent view that isolated tremor may be an incomplete phenomenology of dystonia. PMID:27152246

Dissecting the links between cerebellum and dystonia.

PubMed

Malone, Ailish; Manto, Mario; Hass, Chris

2014-12-01

Dystonia is a common movement disorder characterized by sustained muscle contractions. These contractions generate twisting and repetitive movements or typical abnormal postures, often exacerbated by voluntary movement. Dystonia can affect almost all the voluntary muscles. For several decades, the discussion on the pathogenesis has been focused on basal ganglia circuits, especially striatal networks. So far, although dystonia has been observed in some forms of ataxia such as dominant ataxias, the link between the cerebellum and dystonia has remained unclear. Recent human studies and experimental data mainly in rodents show that the cerebellum circuitry could also be a key player in the pathogenesis of some forms of dystonia. In particular, studies based on behavioral adaptation paradigm shed light on the links between dystonia and cerebellum. The spectrum of movement disorders in which the cerebellum is implicated is continuously expanding, and manipulation of cerebellar circuits might even emerge as a candidate therapy in the coming years.

Abnormal nuclear envelopes in the striatum and motor deficits in DYT11 myoclonus-dystonia mouse models

PubMed Central

Yokoi, Fumiaki; Dang, Mai T.; Zhou, Tong; Li, Yuqing

2012-01-01

DYT11 myoclonus-dystonia (M-D) is a movement disorder characterized by myoclonic jerks with dystonic symptoms and caused by mutations in paternally expressed SGCE, which codes for ɛ-sarcoglycan. Paternally inherited Sgce heterozygous knock-out (KO) mice exhibit motor deficits and spontaneous myoclonus. Abnormal nuclear envelopes have been reported in cellular and mouse models of early-onset DYT1 generalized torsion dystonia; however, the relationship between the abnormal nuclear envelopes and motor symptoms are not clear. Furthermore, it is not known whether abnormal nuclear envelope exists in non-DYT1 dystonia. In the present study, abnormal nuclear envelopes in the striatal medium spiny neurons (MSNs) were found in Sgce KO mice. To analyze whether the loss of ɛ-sarcoglycan in the striatum alone causes abnormal nuclear envelopes, motor deficits or myoclonus, we produced paternally inherited striatum-specific Sgce conditional KO (Sgce sKO) mice and analyzed their phenotypes. Sgce sKO mice exhibited motor deficits in both beam-walking and accelerated rotarod tests, while they did not exhibit abnormal nuclear envelopes, alteration in locomotion, or myoclonus. The results suggest that the loss of ɛ-sarcoglycan in the striatum contributes to motor deficits, while it alone does not produce abnormal nuclear envelopes or myoclonus. Development of therapies targeting the striatum to compensate for the loss of ɛ-sarcoglycan function may rescue the motor deficits in DYT11 M-D patients. PMID:22080833

A pilot trial of square biphasic pulse deep brain stimulation for dystonia: The BIP dystonia study.

PubMed

Almeida, Leonardo; Martinez-Ramirez, Daniel; Ahmed, Bilal; Deeb, Wissam; Jesus, Sol De; Skinner, Jared; Terza, Matthew J; Akbar, Umer; Raike, Robert S; Hass, Chris J; Okun, Michael S

2017-04-01

Dystonia often has inconsistent benefits and requires more energy-demanding DBS settings. Studies suggest that squared biphasic pulses could provide significant clinical benefit; however, dystonia patients have not been explored. To assess safety and tolerability of square biphasic DBS in dystonia patients. This study included primary generalized or cervical dystonia patients with bilateral GPi DBS. Square biphasic pulses were implemented and patients were assessed at baseline, immediately postwashout, post-30-minute washout, 1 hour post- and 2 hours postinitiation of investigational settings. Ten participants completed the study. There were no patient-reported or clinician-observed side effects. There was improvement across time on the Toronto Western Spasmodic Torticollis Rating Scale (χ 2  = 10.7; P = 0.031). Similar improvement was detected in objective gait measurements. Square biphasic stimulation appears safe and feasible in dystonia patients with GPi DBS. Further studies are needed to evaluate possible effectiveness particularly in cervical and gait features. © 2016 International Parkinson and Movement Disorder Society. © 2017 International Parkinson and Movement Disorder Society.

[Bilateral Pallidotomy for Tardive Dystonia:A Case Report].

PubMed

Kohara, Kotaro; Taira, Takaomi; Horisawa, Shiro; Hanada, Tomoko; Kawamata, Takakazu

2017-11-01

Tardive dystonia is a movement disorder related to the use of dopamine-receptor-blocking drugs. Several reports have shown that deep brain stimulation of the globus pallidus internus(GPi-DBS)is effective in treating tardive dystonia. However, a few reports demonstrated the efficacy of ablation of the GPi(pallidotomy). We herein report a case of tardive dystonia successfully treated with bilateral pallidotomy. A 32-year-old man developed severe tardive dystonia 10 years after the chronic use of antipsychotic drugs. Withdrawal of the drugs and botulinum toxin injections were ineffective. The patient underwent bilateral pallidotomy for tardive dystonia because of rejection of the implanted DBS devices. Significant improvement was observed, with a 95% decrease in the Burke-Fahn-Marsden Dystonia Rating Scale(BFMDRS)movement score, and no severe adverse events occurred. Symptomatic relief persisted for nine months. Pallidotomy is a feasible and efficacious procedure for tardive dystonia treatment without the use of hardware implantations.

Finger muscle control in children with dystonia.

PubMed

Young, Scott J; van Doornik, Johan; Sanger, Terence D

2011-06-01

Childhood dystonia is a disorder that involves inappropriate muscle activation during attempts at voluntary movement. Few studies have investigated the muscle activity associated with dystonia in children, and none have done so in the hands. In this study, we measured surface electromyographic activity in four intrinsic hand muscles while participants attempted to perform an isometric tracking task using one of the muscles. Children with dystonia had greater tracking error with the task-related muscle and greater overflow to non-task muscles. Both tracking error and overflow correlated with the Barry-Albright Dystonia scale of the respective upper limb. Overflow also decreased when participants received visual feedback of non-task muscle activity. We conclude that two of the motor deficits in childhood dystonia--motor overflow and difficulties in actively controlling muscles--can be seen in the surface electromyographic activity of individual muscles during an isometric task. As expected from results in adults, overflow is an important feature of childhood dystonia. However, overflow may be at least partially dependent on an individual's level of awareness of their muscle activity. Most importantly, poor single-muscle tracking shows that children with dystonia have deficits of individual muscle control in addition to overflow or co-contraction. These results provide the first quantitative measures of the muscle activity associated with hand dystonia in children, and they suggest possible directions for control of dystonic symptoms. Copyright © 2011 Movement Disorder Society.

Dystonia and Cerebellar Degeneration in the Leaner Mouse Mutant

PubMed Central

Raike, Robert S.; Hess, Ellen J.; Jinnah, H.A.

2015-01-01

Cerebellar degeneration is traditionally associated with ataxia. Yet, there are examples of both ataxia and dystonia occurring in individuals with cerebellar degeneration. There is also substantial evidence suggesting that cerebellar dysfunction alone may cause dystonia. The types of cerebellar defects that may cause ataxia, dystonia, or both have not been delineated. In the current study, we explored the relationship between cerebellar degeneration and dystonia using the leaner mouse mutant. Leaner mice have severe dystonia that is associated with dysfunctional and degenerating cerebellar Purkinje cells. Whereas the density of Purkinje cells was not significantly reduced in 4 week-old leaner mice, approximately 50% of the neurons were lost by 34 weeks of age. On the other hand, the dystonia and associated functional disability became significantly less severe during this same interval. In other words, dystonia improved as Purkinje cells were lost, suggesting that dysfunctional Purkinje cells, rather than Purkinje cell loss, contribute to the dystonia. These results provide evidence that distorted cerebellar function may cause dystonia and support the concept that different types of cerebellar defects can have different functional consequences. PMID:25791619

Research Priorities in Limb and Task-Specific Dystonias.

PubMed

Pirio Richardson, Sarah; Altenmüller, Eckart; Alter, Katharine; Alterman, Ron L; Chen, Robert; Frucht, Steven; Furuya, Shinichi; Jankovic, Joseph; Jinnah, H A; Kimberley, Teresa J; Lungu, Codrin; Perlmutter, Joel S; Prudente, Cecília N; Hallett, Mark

2017-01-01

Dystonia, which causes intermittent or sustained abnormal postures and movements, can present in a focal or a generalized manner. In the limbs, focal dystonia can occur in either the upper or lower limbs and may be task-specific causing abnormal motor performance for only a specific task, such as in writer's cramp, runner's dystonia, or musician's dystonia. Focal limb dystonia can be non-task-specific and may, in some circumstances, be associated with parkinsonian disorders. The true prevalence of focal limb dystonia is not known and is likely currently underestimated, leaving a knowledge gap and an opportunity for future research. The pathophysiology of focal limb dystonia shares some commonalities with other dystonias with a loss of inhibition in the central nervous system and a loss of the normal regulation of plasticity, called homeostatic plasticity. Functional imaging studies revealed abnormalities in several anatomical networks that involve the cortex, basal ganglia, and cerebellum. Further studies should focus on distinguishing cause from effect in both physiology and imaging studies to permit focus on most relevant biological correlates of dystonia. There is no specific therapy for the treatment of limb dystonia given the variability in presentation, but off-label botulinum toxin therapy is often applied to focal limb and task-specific dystonia. Various rehabilitation techniques have been applied and rehabilitation interventions may improve outcomes, but small sample size and lack of direct comparisons between methods to evaluate comparative efficacy limit conclusions. Finally, non-invasive and invasive therapeutic modalities have been explored in small studies with design limitations that do not yet clearly provide direction for larger clinical trials that could support new clinical therapies. Given these gaps in our clinical, pathophysiologic, and therapeutic knowledge, we have identified priorities for future research including: the development of

Research Priorities in Limb and Task-Specific Dystonias

PubMed Central

Pirio Richardson, Sarah; Altenmüller, Eckart; Alter, Katharine; Alterman, Ron L.; Chen, Robert; Frucht, Steven; Furuya, Shinichi; Jankovic, Joseph; Jinnah, H. A.; Kimberley, Teresa J.; Lungu, Codrin; Perlmutter, Joel S.; Prudente, Cecília N.; Hallett, Mark

2017-01-01

Dystonia, which causes intermittent or sustained abnormal postures and movements, can present in a focal or a generalized manner. In the limbs, focal dystonia can occur in either the upper or lower limbs and may be task-specific causing abnormal motor performance for only a specific task, such as in writer’s cramp, runner’s dystonia, or musician’s dystonia. Focal limb dystonia can be non-task-specific and may, in some circumstances, be associated with parkinsonian disorders. The true prevalence of focal limb dystonia is not known and is likely currently underestimated, leaving a knowledge gap and an opportunity for future research. The pathophysiology of focal limb dystonia shares some commonalities with other dystonias with a loss of inhibition in the central nervous system and a loss of the normal regulation of plasticity, called homeostatic plasticity. Functional imaging studies revealed abnormalities in several anatomical networks that involve the cortex, basal ganglia, and cerebellum. Further studies should focus on distinguishing cause from effect in both physiology and imaging studies to permit focus on most relevant biological correlates of dystonia. There is no specific therapy for the treatment of limb dystonia given the variability in presentation, but off-label botulinum toxin therapy is often applied to focal limb and task-specific dystonia. Various rehabilitation techniques have been applied and rehabilitation interventions may improve outcomes, but small sample size and lack of direct comparisons between methods to evaluate comparative efficacy limit conclusions. Finally, non-invasive and invasive therapeutic modalities have been explored in small studies with design limitations that do not yet clearly provide direction for larger clinical trials that could support new clinical therapies. Given these gaps in our clinical, pathophysiologic, and therapeutic knowledge, we have identified priorities for future research including: the development of

Strategies for treatment of dystonia.

PubMed

Dressler, Dirk; Altenmueller, Eckart; Bhidayasiri, Roongroj; Bohlega, Saeed; Chana, Pedro; Chung, Tae Mo; Frucht, Steven; Garcia-Ruiz, Pedro J; Kaelin, Alain; Kaji, Ryuji; Kanovsky, Petr; Laskawi, Rainer; Micheli, Federico; Orlova, Olga; Relja, Maja; Rosales, Raymond; Slawek, Jaroslaw; Timerbaeva, Sofia; Warner, Thomas T; Saberi, Fereshte Adib

2016-03-01

Treatment of dystonias is generally symptomatic. To produce sufficient therapy effects, therefore, frequently a multimodal and interdisciplinary therapeutic approach becomes necessary, combining botulinum toxin therapy, deep brain stimulation, oral antidystonic drugs, adjuvant drugs and rehabilitation therapy including physiotherapy, occupational therapy, re-training, speech therapy, psychotherapy and sociotherapy. This review presents the recommendations of the IAB-Interdisciplinary Working Group for Movement Disorders Special Task Force on Interdisciplinary Treatment of Dystonia. It reviews the different therapeutic modalities and outlines a strategy to adapt them to the dystonia localisation and severity of the individual patient. Hints to emerging and future therapies will be given.

Pallidal deep brain stimulation in patients with primary generalised or segmental dystonia: 5-year follow-up of a randomised trial.

PubMed

Volkmann, Jens; Wolters, Alexander; Kupsch, Andreas; Müller, Jörg; Kühn, Andrea A; Schneider, Gerd-Helge; Poewe, Werner; Hering, Sascha; Eisner, Wilhelm; Müller, Jan-Uwe; Deuschl, Günther; Pinsker, Marcus O; Skogseid, Inger-Marie; Roeste, Geir Ketil; Krause, Martin; Tronnier, Volker; Schnitzler, Alfons; Voges, Jürgen; Nikkhah, Guido; Vesper, Jan; Classen, Joseph; Naumann, Markus; Benecke, Reiner

2012-12-01

after surgery, pallidal neurostimulation continues to be an effective and relatively safe treatment option for patients with severe idiopathic dystonia. This long-term observation provides further evidence in favour of pallidal neurostimulation as a first-line treatment for patients with medically intractable, segmental, or generalised dystonia. Medtronic. Copyright © 2012 Elsevier Ltd. All rights reserved.

Acute Cervical Dystonia Induced by Clebopride.

PubMed

Choi, Jin Kyo; Hong, Jin Yong

2017-01-01

Antidopaminergic drugs are known to induce extrapyramidal symptoms. Clebopride, a dopamine antagonist, also can produce parkinsonism, tardive dyskinesia, tardive dystonia, hemifacial dystonia, or oculogyric crisis; however, acute dystonic reaction caused by clebopride has not been reported in adults. We report two young men who experienced acute cervical dystonia within a few days of taking clebopride. The patients recovered after discontinuation of the drug. Physicians prescribing clebopride should be aware of the adverse effects of this drug.

Acute Cervical Dystonia Induced by Clebopride

PubMed Central

2017-01-01

Antidopaminergic drugs are known to induce extrapyramidal symptoms. Clebopride, a dopamine antagonist, also can produce parkinsonism, tardive dyskinesia, tardive dystonia, hemifacial dystonia, or oculogyric crisis; however, acute dystonic reaction caused by clebopride has not been reported in adults. We report two young men who experienced acute cervical dystonia within a few days of taking clebopride. The patients recovered after discontinuation of the drug. Physicians prescribing clebopride should be aware of the adverse effects of this drug. PMID:29333306

Secondary Dystonia-Clinical Clues and Syndromic Associations

PubMed Central

Schneider, Susanne A; Bhatia, Kailash P

2009-01-01

Background: Dystonia is a hyperkinetic movement disorder defined by involuntary sustained muscle spasms and unusual postures. Etiologically, dystonic syndromes can be broadly divided into primary and secondary forms, dystonia-plus syndromes and heredodegenerative forms. In particular, diagnosis of secondary dystonic syndromes can be challenging in view of the variety of causes. Purpose: The purpose of this article is to highlight some clinical clues and syndromic associations as well as investigational findings which may be helpful in the approach to a patient with suspected secondary dystonia. Methods: We outline characteristic clinical and neuroimaging findings which may be directive in the diagnostic process of dystonia patients and facilitate making the correct diagnosis, thus allowing initiating the best treatment. Results: Secondary causes of dystonia include, among others, strategic brain lesions of various origins, metabolic disease, neurodegenerative conditions, and previous exposure to drugs or toxins. Presence of clinical signs including prominent oromandibular involvement, eye movement disorders, retinitis pigmentosa, deafness, peripheral neuropathy, parkinsonism or progressive dementia should alert the clinician to consider a secondary cause. Strategic lesions within the basal ganglia, but also within the brainstem, cerebellum or cortical areas may underlie dystonia and should thus be excluded. Conclusions: When thorough clinical examination reveals features atypical of primary dystonia, syndromic associations may help the clinician to narrow down the list of differential diagnosis. Directive investigations like neuroimaging may confirm the clinical suspicion. PMID:24868358

Finger Muscle Control in Children with Dystonia

PubMed Central

Young, Scott J.; van Doornik, Johan; Sanger, Terence D.

2010-01-01

Childhood dystonia is a disorder that involves inappropriate muscle activation during attempts at voluntary movement. Few studies have investigated the muscle activity associated with dystonia in children, and none have done so in the hands. In this study, we measured surface electromyographic activity in four intrinsic hand muscles while participants attempted to perform an isometric tracking task using one of the muscles. Children with dystonia had greater tracking error with the task-related muscle and greater overflow to non-task muscles. Both tracking error and overflow correlated with the Barry-Albright Dystonia scale of the respective upper limb. Overflow also decreased when participants received visual feedback of non-task muscle activity. We conclude that two of the motor deficits in childhood dystonia—motor overflow and difficulties in actively controlling muscles—can be seen in the surface electromyographic activity of individual muscles during an isometric task. As expected from results in adults, overflow is an important feature of childhood dystonia. However, overflow may be at least partially dependent on an individual’s level of awareness of their muscle activity. Most importantly, poor single-muscle tracking shows that children with dystonia have deficits of individual muscle control in addition to overflow or co-contraction. These results provide the first quantitative measures of the muscle activity associated with hand dystonia in children, and they suggest possible directions for control of dystonic symptoms. PMID:21449015

Multilingual website and cyberconsultations for oromandibular dystonia

PubMed Central

Yoshida, Kazuya

2018-01-01

Oromandibular dystonia is a focal dystonia that manifests as involuntary masticatory and/or tongue muscle contractions. This movement disorder is frequently misdiagnosed as a temporomandibular disorder. Hence, it would be useful to establish a method that makes it possible for patients with the condition to find appropriate medical institutions by themselves. The author produced a website Involuntary movements of the stomatognathic region (https://sites. google.com/site/oromandibulardystoniaenglish/) for patients with oromandibular dystonia, which is available in twenty languages. It has been viewed more than 1,000,000 times by individuals from all over the world. The visitors to the site have completed questionnaires and/or sent images or videos of their involuntary movements over the internet. Cyberconsultations (remote diagnosis) were also performed via Skype™. Approximately 1000 patients with involuntary stomatognathic movements visited our department. Only 12.5% of the patients had previously been diagnosed with or were suspected to have dystonia. The findings of this study suggest that the multilingual website has contributed to increasing awareness of oromandibular dystonia and that the provision of basic telemedicine via the internet can aid the diagnosis and treatment of oromandibular dystonia. PMID:29844890

Multilingual website and cyberconsultations for oromandibular dystonia.

PubMed

Yoshida, Kazuya

2018-03-30

Oromandibular dystonia is a focal dystonia that manifests as involuntary masticatory and/or tongue muscle contractions. This movement disorder is frequently misdiagnosed as a temporomandibular disorder. Hence, it would be useful to establish a method that makes it possible for patients with the condition to find appropriate medical institutions by themselves. The author produced a website Involuntary movements of the stomatognathic region (https://sites. google.com/site/oromandibulardystoniaenglish/) for patients with oromandibular dystonia, which is available in twenty languages. It has been viewed more than 1,000,000 times by individuals from all over the world. The visitors to the site have completed questionnaires and/or sent images or videos of their involuntary movements over the internet. Cyberconsultations (remote diagnosis) were also performed via Skype ™ . Approximately 1000 patients with involuntary stomatognathic movements visited our department. Only 12.5% of the patients had previously been diagnosed with or were suspected to have dystonia. The findings of this study suggest that the multilingual website has contributed to increasing awareness of oromandibular dystonia and that the provision of basic telemedicine via the internet can aid the diagnosis and treatment of oromandibular dystonia.

ANIMAL MODELS OF DYSTONIA: LESSONS FROM A MUTANT RAT

PubMed Central

LeDoux, Mark S.

2010-01-01

Dystonia is a motor sign characterized by involuntary muscle contractions which produce abnormal postures. Genetic factors contribute significantly to primary dystonia. In comparison, secondary dystonia can be caused by a wide variety of metabolic, structural, infectious, toxic and inflammatory insults to the nervous system. Although classically ascribed to dysfunction of the basal ganglia, studies of diverse animal models have pointed out that dystonia is a network disorder with important contributions from abnormal olivocerebellar signaling. In particular, work with the dystonic (dt) rat has engendered dramatic paradigm shifts in dystonia research. The dt rat manifests generalized dystonia caused by deficiency of the neuronally-restricted protein caytaxin. Electrophysiological and biochemical studies have shown that defects at the climbing fiber-Purkinje cell synapse in the dt rat lead to abnormal bursting firing patterns in the cerebellar nuclei, which increases linearly with postnatal age. In a general sense, the dt rat has shown the scientific and clinical communities that dystonia can arise from dysfunctional cerebellar cortex. Furthermore, work with the dt rat has provided evidence that dystonia (1) is a neurodevelopmental network disorder and (2) can be driven by abnormal cerebellar output. In large part, work with other animal models has expanded upon studies in the dt rat and shown that primary dystonia is a multi-nodal network disorder associated with defective sensorimotor integration. In addition, experiments in genetically-engineered models have been used to examine the underlying cellular pathologies that drive primary dystonia. PMID:21081162

Phenomenology and classification of dystonia: a consensus update.

PubMed

Albanese, Alberto; Bhatia, Kailash; Bressman, Susan B; Delong, Mahlon R; Fahn, Stanley; Fung, Victor S C; Hallett, Mark; Jankovic, Joseph; Jinnah, Hyder A; Klein, Christine; Lang, Anthony E; Mink, Jonathan W; Teller, Jan K

2013-06-15

This report describes the consensus outcome of an international panel consisting of investigators with years of experience in this field that reviewed the definition and classification of dystonia. Agreement was obtained based on a consensus development methodology during 3 in-person meetings and manuscript review by mail. Dystonia is defined as a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both. Dystonic movements are typically patterned and twisting, and may be tremulous. Dystonia is often initiated or worsened by voluntary action and associated with overflow muscle activation. Dystonia is classified along 2 axes: clinical characteristics, including age at onset, body distribution, temporal pattern and associated features (additional movement disorders or neurological features); and etiology, which includes nervous system pathology and inheritance. The clinical characteristics fall into several specific dystonia syndromes that help to guide diagnosis and treatment. We provide here a new general definition of dystonia and propose a new classification. We encourage clinicians and researchers to use these innovative definition and classification and test them in the clinical setting on a variety of patients with dystonia. © 2013 Movement Disorder Society. © 2013 Movement Disorder Society.

Phenomenology and classification of dystonia: a consensus update

PubMed Central

Albanese, Alberto; Bhatia, Kailash; Bressman, Susan B.; DeLong, Mahlon R.; Fahn, Stanley; Fung, Victor S.C.; Hallett, Mark; Jankovic, Joseph; Jinnah, H.A.; Klein, Christine; Lang, Anthony E.; Mink, Jonathan W.; Teller, Jan K.

2013-01-01

This report describes the consensus outcome of an international panel consisting of investigators with years of experience in this field that reviewed the definition and classification of dystonia. Agreement was obtained based on a consensus development methodology during three in-person meetings and manuscript review by mail. Dystonia is defined as a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both. Dystonic movements are typically patterned and twisting, and may be tremulous. Dystonia is often initiated or worsened by voluntary action and associated with overflow muscle activation. Dystonia is classified along two axes: clinical characteristics, including age at onset, body distribution, temporal pattern and associated features (additional movement disorders or neurological features), and etiology, which includes nervous system pathology and inheritance. The clinical characteristics fall into several specific dystonia syndromes that help to guide diagnosis and treatment. We provide here a new general definition of dystonia and propose a new classification. We encourage clinicians and researchers to use these innovative definition and classification and test them in the clinical setting on a variety of patients with dystonia. PMID:23649720

Current and future medical treatment in primary dystonia

PubMed Central

Delnooz, Cathérine C.S.

2012-01-01

Dystonia is a hyperkinetic movement disorder, characterized by involuntary and sustained contractions of opposing muscles causing twisting movements and abnormal postures. It is often a disabling disorder that has a significant impact on physical and psychosocial wellbeing. The medical therapeutic armamentarium used in practice is quite extensive, but for many of these interventions formal proof of efficacy is lacking. Exceptions are the use of botulinum toxin in patients with cervical dystonia, some forms of cranial dystonia (in particular, blepharospasm) and writer’s cramp; deep brain stimulation of the pallidum in generalized and segmental dystonia; and high-dose trihexyphenidyl in young patients with segmental and generalized dystonia. In order to move this field forward, we not only need better trials that examine the effect of current treatment interventions, but also a further understanding of the pathophysiology of dystonia as a first step to design and test new therapies that are targeted at the underlying biologic and neurophysiologic mechanisms. PMID:22783371

Connectome-Wide Phenotypical and Genotypical Associations in Focal Dystonia

PubMed Central

Fuertinger, Stefan

2017-01-01

Isolated focal dystonia is a debilitating movement disorder of unknown pathophysiology. Early studies in focal dystonias have pointed to segregated changes in brain activity and connectivity. Only recently has the notion that dystonia pathophysiology may lie in abnormalities of large-scale brain networks appeared in the literature. Here, we outline a novel concept of functional connectome-wide alterations that are linked to dystonia phenotype and genotype. Using a neural community detection strategy and graph theoretical analysis of functional MRI data in human patients with the laryngeal form of dystonia (LD) and healthy controls (both males and females), we identified an abnormally widespread hub formation in LD, which particularly affected the primary sensorimotor and parietal cortices and thalamus. Left thalamic regions formed a delineated functional community that highlighted differences in network topology between LD patients with and without family history of dystonia. Conversely, marked differences in the topological organization of parietal regions were found between phenotypically different forms of LD. The interface between sporadic genotype and adductor phenotype of LD yielded four functional communities that were primarily governed by intramodular hub regions. Conversely, the interface between familial genotype and abductor phenotype was associated with numerous long-range hub nodes and an abnormal integration of left thalamus and basal ganglia. Our findings provide the first comprehensive atlas of functional topology across different phenotypes and genotypes of focal dystonia. As such, this study constitutes an important step toward defining dystonia as a large-scale network disorder, understanding its causative pathophysiology, and identifying disorder-specific markers. SIGNIFICANCE STATEMENT The architecture of the functional connectome in focal dystonia was analyzed in a large population of patients with laryngeal dystonia. Breaking with the

Task-specific singing dystonia: vocal instability that technique cannot fix.

PubMed

Halstead, Lucinda A; McBroom, Deanna M; Bonilha, Heather Shaw

2015-01-01

Singer's dystonia is a rare variation of focal laryngeal dystonia presenting only during specific tasks in the singing voice. It is underdiagnosed since it is commonly attributed to technique problems including increased muscle tension, register transition, or wobble. Singer's dystonia differs from technique-related issues in that it is task- and/or pitch-specific, reproducible and occurs independently from the previously mentioned technical issues.This case series compares and contrasts profiles of four patients with singer's dystonia to increase our knowledge of this disorder. This retrospective case series includes a detailed case history, results of singing evaluations from individual voice teachers, review of singing voice samples by a singing voice specialist, evaluation by a laryngologist with endoscopy and laryngeal electromyography (LEMG), and spectral analysis of the voice samples by a speech-language pathologist. Results demonstrate the similarities and unique differences of individuals with singer's dystonia. Response to treatment and singing status varied from nearly complete relief of symptoms with botulinum toxin injections to minor relief of symptoms and discontinuation of singing. The following are the conclusions from this case series: (1) singer's dystonia exists as a separate entity from technique issues, (2) singer's dystonia is consistent with other focal task-specific dystonias found in musicians, (3) correctly diagnosing singer's dystonia allows singer's access to medical treatment of dystonia and an opportunity to modify their singing repertoire to continue singing with the voice they have, and (4) diagnosis of singer's dystonia requires careful sequential multidisciplinary evaluation to isolate the instability and confirm dystonia by LEMG and spectral voice analysis. Copyright © 2015 The Voice Foundation. Published by Elsevier Inc. All rights reserved.

Efficacy of Zolpidem for Dystonia: A Study Among Different Subtypes

PubMed Central

Miyazaki, Yoshimichi; Sako, Wataru; Asanuma, Kotaro; Izumi, Yuishin; Miki, Tetsuro; Kaji, Ryuji

2012-01-01

Although there are some newly developed options to treat dystonia, its medical treatment is not always satisfactory. Zolpidem, an imidazopyridine agonist with a high affinity on benzodiazepine subtype receptor BZ1 (ω1), was found to improve clinical symptoms of dystonia in a limited number of case reports. To investigate what subtype of dystonia is responsive to the therapy, we conducted an open label study to assess the efficacy of zolpidem (5–20 mg) in 34 patients suffering from miscellaneous types of dystonia using the Burke–Fahn–Marsden Dystonia Rating Scale (BFMDRS). Patients were entered into the study if they had been refractory to other medications as evaluated by BFMDRS (no change in the previous two successive visits). After zolpidem therapy, the scores in the patients as a whole were decreased from 7.2 ± 7.9 to 5.5 ± 5.0 (P = 0.042). Patients with generalized dystonia, Meige syndrome/blepharospasm, and hand dystonia improved in the scale by 27.8, 17.8, and 31.0%, respectively, whereas no improvement was found in cervical dystonia patients. Overall response rate among patients were comparable to that of trihexyphenidyl. Zolpidem may be a therapeutic option for generalized dystonia, Meige syndrome, and hand dystonia including musician’s. Drowsiness was the dose-limiting factor. PMID:22529836

Feedforward somatosensory inhibition is normal in cervical dystonia.

PubMed

Ferrè, Elisa R; Ganos, Christos; Bhatia, Kailash P; Haggard, Patrick

2015-03-01

Insufficient cortical inhibition is a key pathophysiological finding in dystonia. Subliminal sensory stimuli were reported to transiently inhibit somatosensory processing. Here we investigated whether such subliminal feedforward inhibition is reduced in patients with cervical dystonia. Sixteen cervical dystonia patients and 16 matched healthy controls performed a somatosensory detection task. We measured the drop in sensitivity to detect a threshold-level digital nerve shock when it was preceded by a subliminal conditioning shock, compared to when it was not. Subliminal conditioning shocks reduced sensitivity to threshold stimuli to a similar extent in both patients and controls, suggesting that somatosensory subliminal feedforward inhibition is normal in cervical dystonia. Somatosensory feedforward inhibition was normal in this group of cervical dystonia patients. Our results qualify previous concepts of a general dystonic deficit in sensorimotor inhibitory processing. Copyright © 2015 Elsevier Ltd. All rights reserved.

Current and emerging strategies for treatment of childhood dystonia

PubMed Central

Bertucco, Matteo; Sanger, Terence D.

2014-01-01

Childhood dystonia is a movement disorder characterized by involuntary sustained or intermittent muscle contractions causing twisting and repetitive movements, abnormal postures, or both (Sanger et al. 2003). Dystonia is a devastating neurological condition that prevents the acquisition of normal motor skills during critical periods of development in children. Moreover, it is particularly debilitating in children when dystonia affects the upper extremities such that learning and consolidation of common daily motor actions are impeded. Thus, the treatment and rehabilitation of dystonia is a challenge that continuously requires exploration of novel interventions. This review will initially describe the underlying neurophysiological mechanisms of the motor impairments found in childhood dystonia followed by the clinical measurement tools that are available to document the presence and severity of symptoms. Finally, we will discuss the state-of-the-art of therapeutic options for childhood dystonia, with particular emphasis on emergent and innovative strategies. PMID:25835254

Convergent evidence for abnormal striatal synaptic plasticity in dystonia

PubMed Central

Peterson, David A.; Sejnowski, Terrence J.; Poizner, Howard

2010-01-01

Dystonia is a functionally disabling movement disorder characterized by abnormal movements and postures. Although substantial recent progress has been made in identifying genetic factors, the pathophysiology of the disease remains a mystery. A provocative suggestion gaining broader acceptance is that some aspect of neural plasticity may be abnormal. There is also evidence that, at least in some forms of dystonia, sensorimotor “use” may be a contributing factor. Most empirical evidence of abnormal plasticity in dystonia comes from measures of sensorimotor cortical organization and physiology. However, the basal ganglia also play a critical role in sensorimotor function. Furthermore, the basal ganglia are prominently implicated in traditional models of dystonia, are the primary targets of stereotactic neurosurgical interventions, and provide a neural substrate for sensorimotor learning influenced by neuromodulators. Our working hypothesis is that abnormal plasticity in the basal ganglia is a critical link between the etiology and pathophysiology of dystonia. In this review we set up the background for this hypothesis by integrating a large body of disparate indirect evidence that dystonia may involve abnormalities in synaptic plasticity in the striatum. After reviewing evidence implicating the striatum in dystonia, we focus on the influence of two neuromodulatory systems: dopamine and acetylcholine. For both of these neuromodulators, we first describe the evidence for abnormalities in dystonia and then the means by which it may influence striatal synaptic plasticity. Collectively, the evidence suggests that many different forms of dystonia may involve abnormal plasticity in the striatum. An improved understanding of these altered plastic processes would help inform our understanding of the pathophysiology of dystonia, and, given the role of the striatum in sensorimotor learning, provide a principled basis for designing therapies aimed at the dynamic processes

Developing Gene Silencing for the Study and Treatment of Dystonia

DTIC Science & Technology

2015-11-01

cause abnormal twisting postures. DYT1 dystonia is an autosomal dominant disease with onset of dystonia during childhood . The most common early onset...SUPPLEMENTARY NOTES 14. ABSTRACT Dystonia is a debilitating neurological disease with no cure. In dystonia, there are involuntary muscle contractions that...is a debilitating neurological disease with no cure that is characterized by involuntary muscle contractions that cause abnormal twisting postures

Tremor associated with focal and segmental dystonia.

PubMed

Rudzińska, M; Krawczyk, M; Wójcik-Pędziwiatr, M; Szczudlik, A; Wasielewska, A

2013-01-01

Tremor occurs in 10-85% of patients with focal dystonia as so-called dystonic tremor or tremor associated with dystonia. The aim of this study was to assess the incidence and to characterize parameters of tremor accompanying focal and segmental dystonia. One hundred and twenty-three patients with diagnosis of focal and segmental dystonia together with 51 healthy controls were included in the study. For each participant, clinical examination and objective assessment (accelerometer, electromyography, graphic tablet) of hand tremor was performed. Frequency and severity of tremor were assessed in three positions: at rest (rest tremor); with hands extended (postural tremor); during 'finger-to-nose' test and during Archimedes spiral drawing (kinetic tremor). Based on the mass load test, type of tremor was determined as essential tremor type or enhanced physiological type. The incidence of tremor was significantly higher in dystonic patients as compared to controls (p = 0.0001). In clinical examination, tremor was found in 50% of dystonic patients, and in instrumental assessment in an additional 10-20%. The most frequent type of tremor was postural and kinetic tremor with 7 Hz frequency and featured essential tremor type. In the control group, tremor was detected in about 10% of subjects as 9-Hz postural tremor of enhanced physiological tremor type. No differences were found between patients with different types of dystonia with respect to the tremor incidence, type and parameters (frequency and severity). No correlations between tremor severity and dystonia severity were found either.

Musician's Dystonias

MedlinePlus

... Your Doctor Find a Doctor Finding Support Emotional & Mental Health When a Child is Diagnosed - Resources for Families Frequently Asked Questions Faces of Dystonia Get Involved Donate Stay Connected Special Events Calendar Promote Awareness Join a Support Group Become a Legislative Advocate ...

Botulinum toxin for treatment of the focal dystonia.

PubMed

Nakamura, Yusaku

2017-07-29

Dystonia is defined as a movement disorder characterized by sustained or intermittent muscles contraction causing abnormal, often repetitive, movements, postures, or both. Dystonic movements are typically patterned and twisting, and may be tremulous. The precis diagnosis of dystonia is difficult for physicians because neurological brain imaging does not provide enough practical information. The diagnosis is depend on clinical experience of physicians. Botulinum toxin treatment is the accepted standard of care for patients with focal dystonia. Botulinum toxin treatment results in significant improvement of decreasing the symptom of dystonia. The success of treatment is dependent on muscle selection for treating involved muscles. Usually performance of botulinum toxin treatment is injected according to clinical experience of surface anatomy or clinical location method. However, the benefit of guidance of botulinum toxin treatment is improve outcome in dystonia. Injection techniques with ultra sound echogram or EMG guidance to identify dystonic muscles can be more benefit for patients.

High rates of fatigue and sleep disturbances in dystonia.

PubMed

Wagle Shukla, A; Brown, R; Heese, K; Jones, J; Rodriguez, R L; Malaty, I M; Okun, M S; Kluger, B M

2016-10-01

Nonmotor symptoms in dystonia are increasingly recognized to impair the quality of life. The primary objective of this study was to determine the prevalence of fatigue and sleep disturbances in dystonia and to ascertain their impact on quality of life using standardized questionnaires. Dystonia patients presenting to a Botulinum toxin clinic were prospectively administered Fatigue Severity Scale (FSS), Multidimensional Fatigue Inventory (MFI), Epworth Sleepiness Scale (ESS) and Parkinson's Disease Sleep Scale (PDSS) for assessment of fatigue and sleep disturbances. Health-related Quality of life (HRQOL) was determined using MOS SF-36 scale and depressive symptoms were assessed using the Beck Depression Inventory II. Ninety-one patients with dystonia participated (66 women, 25 men, mean age 60 ± 17 years). Nine subjects had generalized dystonia, 18 segmental dystonia and 64 had focal dystonia. Moderate to severe fatigue was present in 43% of the cohort (FSS), excessive daytime somnolence in 27% (ESS) and other sleep disturbances in 26% (PDSS). FSS and MFI scores correlated significantly with HRQOL even when controlled for depression and sleep disturbances. Excessive daytime somnolence and nocturnal sleep disturbances correlated significantly with the HRQOL; however, these effects were not seen for daytime somnolence when controlled for depression. Psychometric testing found adequate reliabilities and convergent validities for both fatigue and sleep scales. Fatigue and sleep disturbances revealed high prevalence rates in this large, first of its dystonia study. They negatively impacted the quality of life even when controlled for comorbid depression.

[Severe generalized dystonia due to postradiotherapy cerebral calcifications].

PubMed

Chanson, J-B; Anheim, M; Lagha-Boukbiza, O; Fleury, M; Sellal, F; Tranchant, C

2008-05-01

Cerebral calcifications are a cause of secondary dystonia and may be an uncommon complication of radiotherapy. We report a very severe case of generalized dystonia due to postradiotherapy basal ganglia calcifications. An 8-year-old girl received 53 grays radiotherapy after surgery for craniopharyngioma. One year later she developed generalized dystonia. Computed tomography showed bilateral basal ganglia calcifications, especially of the lenticular nuclei. Pharmacological treatment with tetrabenazine, clonazepam and trihexiphenydile allowed a very limited improvement of dystonia; the course was complicated by dystonic storms and decompensations resulting from the iatrogenous panhypopituitarism. This case illustrates a severe complication of cranial irradiation which should be considered in the indications of this treatment, especially for children.

Mental rotation and working memory in musicians' dystonia.

PubMed

Erro, Roberto; Hirschbichler, Stephanie T; Ricciardi, Lucia; Ryterska, Agata; Antelmi, Elena; Ganos, Christos; Cordivari, Carla; Tinazzi, Michele; Edwards, Mark J; Bhatia, Kailash P

2016-11-01

Mental rotation of body parts engages cortical-subcortical areas that are actually involved in the execution of a movement. Musicians' dystonia is a type of focal hand dystonia that is grouped together with writer's cramp under the rubric of "occupational dystonia", but it is unclear to which extent these two disorders share common pathophysiological mechanisms. Previous research has demonstrated patients with writer's cramp to have deficits in mental rotation of body parts. It is unknown whether patients with musicians' dystonia would display similar deficits, reinforcing the concept of shared pathophysiology. Eight patients with musicians' dystonia and eight healthy musicians matched for age, gender and musical education, performed a number of tasks assessing mental rotation of body parts and objects as well as verbal and spatial working memories abilities. There were no differences between patients and healthy musicians as to accuracy and reaction times in any of the tasks. Patients with musicians' dystonia have intact abilities in mentally rotating body parts, suggesting that this disorder relies on a highly selective disruption of movement planning and execution that manifests only upon playing a specific instrument. We further demonstrated that mental rotation of body parts and objects engages, at least partially, different cognitive networks. Copyright © 2016 Elsevier Inc. All rights reserved.

Does abnormal interhemispheric inhibition play a role in mirror dystonia?

PubMed

Sattler, Virginie; Dickler, Maya; Michaud, Martin; Meunier, Sabine; Simonetta-Moreau, Marion

2014-05-01

The presence of mirror dystonia (dystonic movement induced by a specific task performed by the unaffected hand) in the dominant hand of writer's cramp patients when the nondominant hand is moved suggests an abnormal interaction between the 2 hemispheres. In this study we compare the level of interhemispheric inhibition (IHI) in 2 groups of patients with writer's cramp, one with the presence of a mirror dystonia and the other without as well as a control group. The level of bidirectional IHI was measured in wrist muscles with dual-site transcranial magnetic stimulation with a 10-millisecond (short IHI) and a 40-millisecond (long IHI) interstimulus interval during rest and while holding a pen in 9 patients with mirror dystonia 7 without mirror dystonia, and 13 controls. The group of patients without mirror dystonia did not differ from the controls in their IHI level. In contrast, IHI was significantly decreased in the group of patients with mirror dystonia in comparison with the group without mirror dystonia and the controls in both wrist muscles of both the dystonic and unaffected hand whatever the resting or active condition (P = 0.001). The decrease of IHI level in the group of patients with mirror dystonia was negatively correlated with the severity and the duration of the disease: the weaker the level of IHI, the more severe was the disease and the longer its duration. Interhemispheric inhibition disturbances are most likely involved in the occurrence of mirror dystonia. This bilateral deficient inhibition further suggests the involvement of the unaffected hemisphere in the pathophysiology of unilateral dystonia. © 2013 International Parkinson and Movement Disorder Society.

Emerging Common Molecular Pathways for Primary Dystonia

PubMed Central

LeDoux, Mark S; Dauer, William T; Warner, Thomas T

2013-01-01

Background The dystonias are a group of hyperkinetic movement disorders whose principal cause is neuron dysfunction at one or more interconnected nodes of the motor system. The study of genes and proteins which cause familial dystonia provides critical information about the cellular pathways involved in this dysfunction which disrupts the motor pathways at systems level. In recent years study of the increasing number of DYT genes has implicated a number of cell functions which appear to be involved in the pathogenesis of dystonia. Methods Review of literature published in English language publications available on Pubmed relating to the genetics and cellular pathology of dystonia Results and Conclusions Numerous potential pathogenetic mechanisms have been identified. We describe those which fall into three emerging thematic groups: cell cycle and transcriptional regulation in the nucleus, endoplasmic reticulum and nuclear envelope function, and control of synaptic function. PMID:23893453

Integration of sensory force feedback is disturbed in CRPS-related dystonia.

PubMed

Mugge, Winfred; van der Helm, Frans C T; Schouten, Alfred C

2013-01-01

Complex regional pain syndrome (CRPS) is characterized by pain and disturbed blood flow, temperature regulation and motor control. Approximately 25% of cases develop fixed dystonia. The origin of this movement disorder is poorly understood, although recent insights suggest involvement of disturbed force feedback. Assessment of sensorimotor integration may provide insight into the pathophysiology of fixed dystonia. Sensory weighting is the process of integrating and weighting sensory feedback channels in the central nervous system to improve the state estimate. It was hypothesized that patients with CRPS-related dystonia bias sensory weighting of force and position toward position due to the unreliability of force feedback. The current study provides experimental evidence for dysfunctional sensory integration in fixed dystonia, showing that CRPS-patients with fixed dystonia weight force and position feedback differently than controls do. The study shows reduced force feedback weights in CRPS-patients with fixed dystonia, making it the first to demonstrate disturbed integration of force feedback in fixed dystonia, an important step towards understanding the pathophysiology of fixed dystonia.

Genetics Home Reference: X-linked dystonia-parkinsonism

MedlinePlus

... X-linked dystonia-parkinsonism syndrome (XDP): clinical and molecular genetic analysis. Brain Pathol. 1992 Oct;2(4):287-95. Review. Citation on PubMed Kaji R, Goto S, Tamiya G, Ando S, Makino S, Lee LV. Molecular dissection and anatomical basis of dystonia: X-linked ...

Pharyngeal Dystonia Mimicking Spasmodic Dysphonia.

PubMed

Shi, Lucy L; Simpson, C Blake; Hapner, Edie R; Jinnah, Hyder A; Johns, Michael M

2018-03-01

The aim of this study was to describe the presentation of pharyngeal dystonia (PD), which can occur as a focal or segmental dystonia with a primarily pharyngeal involvement for the discussion of treatment methods for controlling consequent symptoms. PD is specific to speech-related tasks. A retrospective medical record review of four patients with PD was performed. All patients were initially misdiagnosed with adductor spasmodic dysphonia and failed standard treatment with botulinum toxin type A (BTX). On laryngoscopy, the patients were discovered to have segmental or focal dystonia primarily affecting the pharyngeal musculature contributing to their vocal manifestations. A novel treatment regimen was designed, which involved directing BTX injections into the muscles involved in spasmodic valving at the oropharyngeal level. After titrating to an optimal dose, all patients showed improvement in their voice and speech with only mild dysphagia. These patients have maintained favorable results with repeat injections at 6- to 12-week intervals. PD, or dystonia with predominant pharyngeal involvement, is a rare entity with vocal manifestations that are not well described. It can be easily mistaken for spasmodic dysphonia. PD is specific to speech-related tasks. A novel method of BTX injections into the involved muscles results in a significant improvement in voice without significant dysphagia. Copyright © 2018 The Voice Foundation. Published by Elsevier Inc. All rights reserved.

Abnormal nuclear envelope in the cerebellar Purkinje cells and impaired motor learning in DYT11 myoclonus-dystonia mouse models

PubMed Central

Yokoi, Fumiaki; Dang, Mai T.; Yang, Guang; Li, JinDong; Doroodchi, Atbin; Zhou, Tong; Li, Yuqing

2011-01-01

Myoclonus-dystonia (M-D) is a movement disorder characterized by myoclonic jerks with dystonia. DYT11 M-D is caused by mutations in SGCE which codes for ε-sarcoglycan. SGCE is maternally imprinted and paternally expressed. Abnormal nuclear envelope has been reported in mouse models of DYT1 generalized torsion dystonia. However, it is not known whether similar alterations occur in DYT11 M-D. We developed a mouse model of DYT11 M-D using paternally-inherited Sgce heterozygous knockout (Sgce KO) mice and reported that they had myoclonus and motor coordination and learning deficits in the beam-walking test. However, the specific brain regions that contribute to these phenotypes have not been identified. Since ε-sarcoglycan is highly expressed in the cerebellar Purkinje cells, here we examined the nuclear envelope in these cells using a transmission electron microscope and found that they are abnormal in Sgce KO mice. Our results put DYT11 M-D in a growing family of nuclear envelopathies. To analyze the effect of loss of ε-sarcoglycan function in the cerebellar Purkinje cells, we produced paternally-inherited cerebellar Purkinje cell-specific Sgce conditional knockout (Sgce pKO) mice. Sgce pKO mice showed motor learning deficits, while they did not show abnormal nuclear envelope in the cerebellar Purkinje cells, robust motor deficits, or myoclonus. The results suggest that ε-sarcoglycan in the cerebellar Purkinje cells contributes to the motor learning, while loss of ε-sarcoglycan in other brain regions may contribute to nuclear envelope abnormality, myoclonus and motor coordination deficits. PMID:22040906

Inherited dystonias: clinical features and molecular pathways.

PubMed

Weisheit, Corinne E; Pappas, Samuel S; Dauer, William T

2018-01-01

Recent decades have witnessed dramatic increases in understanding of the genetics of dystonia - a movement disorder characterized by involuntary twisting and abnormal posture. Hampered by a lack of overt neuropathology, researchers are investigating isolated monogenic causes to pinpoint common molecular mechanisms in this heterogeneous disease. Evidence from imaging, cellular, and murine work implicates deficiencies in dopamine neurotransmission, transcriptional dysregulation, and selective vulnerability of distinct neuronal populations to disease mutations. Studies of genetic forms of dystonia are also illuminating the developmental dependence of disease symptoms that is typical of many forms of the disease. As understanding of monogenic forms of dystonia grows, a clearer picture will develop of the abnormal motor circuitry behind this relatively common phenomenology. This chapter focuses on the current data covering the etiology and epidemiology, clinical presentation, and pathogenesis of four monogenic forms of isolated dystonia: DYT-TOR1A, DYT-THAP1, DYT-GCH1, and DYT-GNAL. Copyright © 2018 Elsevier B.V. All rights reserved.

The broadening application of chemodenervation in X-linked dystonia-parkinsonism (Part II): an open-label experience with botulinum toxin-A (Dysport®) injections for oromandibular, lingual, and truncal-axial dystonias.

PubMed

Rosales, Raymond L; Ng, Arlene R; Santos, Mary Mildred Delgado-Delos; Fernandez, Hubert H

2011-01-01

While the majority of chemodenervation clinics worldwide typically use botulinum toxins for the treatment of common conditions such as blepharopsams, cervical dystonia, limb dystonia, and spasticity, the unusually high concentration of X-linked dystonia-parkinsonism (XDP) has allowed us to collect and describe our experience in the use of botulinum toxin type A (BoNT-A) on rarer dystonic patterns. BoNT-A (Dysport®) was injected in a total 109 dystonias of XDP. Our cohort included: 50 cases in the oromandibular area (jaw opening: 32 cases, jaw closing: 12 cases, and jaw deviation: 6 cases); 35 cases in the lingual area (tongue protrusion: 27 cases and tongue curling: 8 cases); and, 24 cases in the truncal-axial area (flexor: 12 cases, extensor: 7 cases, and lateral-extensor: 5 cases). Interestingly, pain, often a nonprominent symptom of dystonias, was frequently reported in 40/50 XDP cases with oromandibular dystonia and 18/24 XDP cases with truncal-axial dystonia. All BoNT-A procedures were performed under electromyography guidance. A "high potency, low dilution" BoNT-A protocol was applied for oromandibular, lingual, cranial, cervical, and distal limb dystonias; whereas for dystonias of the abdominal, paraspinal, and proximal limb muscles, a "low potency, high dilution" BoNT-A injection protocol was applied. Outcomes measures included: the global dystonia rating scale (DRS) and pain visual analog scale (VAS) reduction at week 4; duration of BoNT-A effects; and, side effect profile. The median DRS score after 4 weeks was 3 ("substantial improvement") for oromandibular and lingual dystonias and 2 ("moderate improvement") for truncal-axial dystonias. Pain reduction was significantly reduced (75%-80% in oromandibular; 30%-80% in truncal-axial dystonias). The median duration of BoNT-A effect was 16 weeks for oromandibular, 12 weeks for lingual, and 11 weeks for truncal-axial dystonias. Compared to a generally safe and well-tolerated BoNT-A injections for truncal

Isolated and combined dystonia syndromes - an update on new genes and their phenotypes.

PubMed

Balint, B; Bhatia, K P

2015-04-01

Recent consensus on the definition, phenomenology and classification of dystonia centres around phenomenology and guides our diagnostic approach for the heterogeneous group of dystonias. Current terminology classifies conditions where dystonia is the sole motor feature (apart from tremor) as 'isolated dystonia', while 'combined dystonia' refers to dystonias with other accompanying movement disorders. This review highlights recent advances in the genetics of some isolated and combined dystonic syndromes. Some genes, such as ANO3, GNAL and CIZ1, have been discovered for isolated dystonia, but they are probably not a common cause of classic cervical dystonia. Conversely, the phenotype associated with TUBB4A mutations expanded from that of isolated dystonia to a syndrome of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC syndrome). Similarly, ATP1A3 mutations cause a wide phenotypic spectrum ranging from rapid-onset dystonia-parkinsonism to alternating hemiplegia of childhood. Other entities entailing dystonia-parkinsonism include dopamine transporter deficiency syndrome (SLC63 mutations); dopa-responsive dystonias; young-onset parkinsonism (PARKIN, PINK1 and DJ-1 mutations); PRKRA mutations; and X-linked TAF1 mutations, which rarely can also manifest in women. Clinical and genetic heterogeneity also characterizes myoclonus-dystonia, which includes not only the classical phenotype associated with epsilon-sarcoglycan mutations but rarely also presentation of ANO3 gene mutations, TITF1 gene mutations typically underlying benign hereditary chorea, and some dopamine synthesis pathway conditions due to GCH1 and TH mutations. Thus, new genes are being recognized for isolated dystonia, and the phenotype of known genes is broadening and now involves different combined dystonia syndromes. © 2015 EAN.

Increased task-uncorrelated muscle activity in childhood dystonia.

PubMed

Lunardini, Francesca; Maggioni, Serena; Casellato, Claudia; Bertucco, Matteo; Pedrocchi, Alessandra L G; Sanger, Terence D

2015-06-12

Even if movement abnormalities in dystonia are obvious on observation-based examinations, objective measures to characterize dystonia and to gain insights into its pathophysiology are still strongly needed. We hypothesize that motor abnormalities in childhood dystonia are partially due to the inability to suppress involuntary variable muscle activity irrelevant to the achievement of the desired motor task, resulting in the superposition of unwanted motion components on the desired movement. However, it is difficult to separate and quantify appropriate and inappropriate motor signals combined in the same muscle, especially during movement. We devise an innovative and practical method to objectively measure movement abnormalities during the performance of a continuous figure-eight writing task in 7 children with dystonia and 9 age-matched healthy controls. During the execution of a continuous writing task, muscle contractions should occur at frequencies that match the frequencies of the writing outcome. We compare the power spectra of kinematic trajectories and electromyographic signals of 8 upper limb muscles to separate muscle activity with the same frequency content of the figure-eight movement (task-correlated) from activity occurring at frequencies extraneous to the task (task-uncorrelated). Children with dystonia present a greater magnitude of task-uncorrelated muscle components. The motor performance achieved by children with dystonia is characterized by an overall lower quality, with high spatial and temporal variability and an altered trade-off between speed and accuracy. Findings are consistent with the hypothesis that, in childhood dystonia, the ability to appropriately suppress variable and uncorrelated elements of movement is impaired. Here we present a proof-of-concept of a promising tool to characterize the phenomenology of movement disorders and to inform the design of neurorehabilitation therapies.

The genetics of dystonia: new twists in an old tale

PubMed Central

Charlesworth, Gavin; Bhatia, Kailash P.

2013-01-01

Dystonia is a common movement disorder seen by neurologists in clinic. Genetic forms of the disease are important to recognize clinically and also provide valuable information about possible pathogenic mechanisms within the wider disorder. In the past few years, with the advent of new sequencing technologies, there has been a step change in the pace of discovery in the field of dystonia genetics. In just over a year, four new genes have been shown to cause primary dystonia (CIZ1, ANO3, TUBB4A and GNAL), PRRT2 has been identified as the cause of paroxysmal kinesigenic dystonia and other genes, such as SLC30A10 and ATP1A3, have been linked to more complicated forms of dystonia or new phenotypes. In this review, we provide an overview of the current state of knowledge regarding genetic forms of dystonia—related to both new and well-known genes alike—and incorporating genetic, clinical and molecular information. We discuss the mechanistic insights provided by the study of the genetic causes of dystonia and provide a helpful clinical algorithm to aid clinicians in correctly predicting the genetic basis of various forms of dystonia. PMID:23775978

Sporadic adult onset dystonia: sensory abnormalities as an endophenotype in unaffected relatives

PubMed Central

Walsh, Richard; O'Dwyer, John P; Sheikh, Ifthikar H; O'Riordan, Sean; Lynch, Tim; Hutchinson, Michael

2007-01-01

Background Most patients with adult onset primary torsion dystonia (AOPTD) have the sporadic form of the disease. They may however be the only manifesting family members of a poorly penetrant genetic disorder. Sensory changes, including structural abnormalities of the primary sensory cortex, are found in AOPTD. Spatial discrimination threshold (SDT), a measure of sensory cortical organisation, is abnormal in AOPTD and in unaffected relatives of patients with familial AOPTD. Our hypothesis was that abnormal SDTs might be found in unaffected relatives of patients with sporadic AOPTD. Methods SDTs were assessed at the index finger bilaterally by a grating orientation task. Normal age related SDTs were derived from 141 control subjects aged 20–64 years. SDTs were considered abnormal when greater than 2.5 SD above the control mean. In total, 105 of 171 (61%) eligible unaffected siblings and offspring of patients with cervical dystonia had SDT examined. Results Fourteen of 48 siblings (29%) and 10 of 57 (18%) offspring were found to have an abnormal SDT. Only five of the 20 patients examined had abnormal SDTs. In 11 of the 25 families, no abnormality was found in an unaffected relative. In the 14 families where at least one unaffected relative had an abnormal SDT, 14 of 37 siblings (38%) and 10 of 33 offspring (30%) had abnormal SDTs. Conclusion Sensory abnormalities found in unaffected relatives of patients with apparently sporadic AOPTD may be a surrogate marker for the carriage of an abnormal gene. PMID:17702779

Dystonia: Physical Therapy

MedlinePlus

... straight. Soft, sunken chairs and sofas do not foster proper alignment and may affect the position of ... dystonia, one should consider modifying the task to foster posture and muscle control. A person with trouble ...

Genetics Home Reference: early-onset primary dystonia

MedlinePlus

... such as seizures or a loss of intellectual function (dementia). Early-onset primary dystonia does not affect a person's intelligence. On ... of torsinA. The altered protein's effect on the function of nerve cells in the brain ... with early-onset primary dystonia do not have a loss of nerve ...

Focal dystonia in musicians: phenomenology, pathophysiology, triggering factors, and treatment.

PubMed

Altenmüller, Eckart; Jabusch, Hans-Christian

2010-03-01

Musician's dystonia is a task-specific movement disorder that manifests itself as a loss of voluntary motor control in extensively trained movements. Approximately 1% of all professional musicians develop musician's dystonia, and in many cases, the disorder terminates the careers of affected musicians. The pathophysiology of the disorder is not completely clarified. Findings include 1) reduced inhibition at different levels of the central nervous system, 2) maladaptive plasticity and altered sensory perception, and 3) alterations in sensorimotor integration. Epidemiological data demonstrate a higher risk for those musicians who play instruments requiring maximal fine-motor skills. For instruments where workload differs across hands, focal dystonia appears more often in the more intensely used hand. In psychological studies, musicians with dystonia have more anxiety and perfectionist tendencies than healthy musicians. These findings strengthen the assumption that behavioral factors may be involved in the etiology of musician's dystonia. Preliminary findings also suggest a genetic contribution to focal task-specific dystonia with phenotypic variations including musician's dystonia. Treatment options include pharmacological interventions, such as trihexyphenidyl or botulinum toxin-A, as well as retraining programs and ergonomic changes in the instrument. Patient-tailored treatment strategies may significantly improve the situation of musicians with focal dystonia. Positive results after retraining and unmonitored technical exercises underline the benefit of an active involvement of patients in the treatment process. Only a minority of musicians, however, return to normal motor control using the currently available therapies.

Idiopathic paroxysmal kinesigenic dyskinesia in Malaysia, a multi-racial Southeast Asian country.

PubMed

Tai, Mei-Ling Sharon; Lim, Shen-Yang; Tan, Chong Tin

2010-08-01

Paroxysmal kinesigenic dyskinesia is a rare disorder, and there are few reports of Asian patients with this condition. We reviewed the clinical features of all patients with idiopathic paroxysmal kinesigenic dyskinesia (PKD) seen at a major neurological centre in Malaysia. The charts of 11 patients with idiopathic PKD seen between 1995 and 2008 were reviewed retrospectively. The male:female ratio was 9:2. Ten patients were of Chinese ethnicity, and one was Malay. Three patients (from two families) had a family history of PKD. The involuntary movement was dystonia in 73% of patients. In one patient, attacks were precipitated by vestibular stimulation. One patient had generalized epilepsy. Another patient who did not have epilepsy demonstrated epileptiform discharges. Only slightly over one-quarter of patients had a positive family history. Males, and people of Chinese ancestry, seem to be affected more frequently by PKD in certain Asian populations. Copyright 2010 Elsevier Ltd. All rights reserved.

Postural control and the relation with cervical sensorimotor control in patients with idiopathic adult-onset cervical dystonia.

PubMed

De Pauw, J; Mercelis, R; Hallemans, A; Van Gils, G; Truijen, S; Cras, P; De Hertogh, W

2018-03-01

Cervical dystonia (CD) is a movement disorder characterized by involuntary muscle contractions leading to an abnormal head posture or movements of the neck. Dysfunctions in somatosensory integration are present and previous data showed enlarged postural sway in stance. Postural control during quiet sitting and the correlation with cervical sensorimotor control were investigated. Postural control during quiet sitting was measured via body sway parameters in 23 patients with CD, regularly receiving botulinum toxin treatment and compared with 36 healthy controls. Amplitude and velocity of displacements of the center of pressure (CoP) were measured by two embedded force plates at 1000 Hz. Three samples of 30 s were recorded with the eyes open and closed. Disease-specific characteristics were obtained in all patients by the Tsui scale, Cervical Dystonia Impact Profile (CDIP-58) and Toronto Western Spasmodic Rating Scale (TWSTRS). Cervical sensorimotor control was assessed with an infrared Vicon system during a head repositioning task. Body sway amplitude and velocity were increased in patients with CD compared to healthy controls. CoP displacements were doubled in patients without head tremor and tripled in patients with a dystonic head tremor. Impairments in cervical sensorimotor control were correlated with larger CoP displacements (r s ranged from 0.608 to 0.748). Postural control is impaired and correlates with dysfunction in cervical sensorimotor control in patients with CD. Treatment is currently focused on the cervical area. Further research towards the potential value of postural control exercises is recommended.

Successful treatment of childhood onset symptomatic dystonia with levodopa.

PubMed Central

Fletcher, N A; Thompson, P D; Scadding, J W; Marsden, C D

1993-01-01

Three patients with childhood onset symptomatic dystonia responded to levodopa. None fulfilled criteria for a diagnosis of "dopa responsive dystonia" (Segawa's disease). One may have had athetoid cerebral palsy for almost 25 years. All obtained dramatic and sustained benefit from levodopa therapy. A therapeutic trial of levodopa is advised in all patients in whom dystonia has developed in childhood or early adult life, regardless of suspected aetiology or duration of symptoms. PMID:8350101

Sonographic alteration of lenticular nucleus in focal task-specific dystonia of musicians.

PubMed

Walter, Uwe; Buttkus, Franziska; Benecke, Reiner; Grossmann, Annette; Dressler, Dirk; Altenmüller, Eckart

2012-01-01

In distinct movement disorders, transcranial sonography detects alterations of deep brain structures with higher sensitivity than other neuroimaging methods. Lenticular nucleus hyperechogenicity on transcranial sonography, thought to be caused by increased local copper content, has been reported as a characteristic finding in primary spontaneous dystonia. Here, we wanted to find out whether deep brain structures are altered in task-specific dystonia. The frequency of sonographic brainstem and basal ganglia changes was studied in an investigator-blinded setting in 15 musicians with focal task-specific hand dystonia, 15 musicians without dystonia, and 15 age- and sex-matched nonmusicians without dystonia. Lenticular nucleus hyperechogenicity was found in 12 musicians with task-specific dystonia, but only in 3 nondystonic musicians (Fisher's exact test, p = 0.001) and 2 nonmusicians (p < 0.001). The degree of lenticular nucleus hyperechogenicity in affected musicians correlated with age, but not with duration of music practice or duration of dystonia. In 2 of 3 affected musicians with normal echogenic lenticular nucleus, substantia nigra hyperechogenicity was found. Our findings support the idea of a pathogenetic link between primary spontaneous and task-specific dystonia. Sonographic basal ganglia alteration might indicate a risk factor that in combination with extensive fine motor training promotes the manifestation of task-specific dystonia. Copyright © 2011 S. Karger AG, Basel.

The challenge of diagnosing focal hand dystonia in musicians.

PubMed

Rosset-Llobet, J; Candia, V; Fàbregas i Molas, S; Dolors Rosinés i Cubells, D; Pascual-Leone, A

2009-07-01

To most clinicians, medical problems in musicians, particularly those concerning focal hand dystonia, constitute an unfamiliar domain difficult to manage. The latter can importantly influence diagnostics and the course of treatment. The purpose of this study was to enlighten the issue and to identify possible problems in diagnosing musicians' cramp within the Spanish medical community. We used a brief questions' catalog and clinical histories of 665 musicians seen at our clinic for performing artists. We analyzed patients' diagnosis records in 87 cases of focal hand dystonia (13.1%). In so doing, we surveyed previous diagnoses and diverse treatments prescriptions prior to referral to our clinic. Referrals came primarily from orthopaedists and neurologists. The 52.9% arrived at our clinic without a diagnosis or a suspicion of suffering from focal dystonia. The most frequently attempted diagnoses other than musicians' dystonia included nerve compression, tendonitis and trigger fingers. Commonly prescribed treatments included rest, various surgical procedures, physiotherapy and oral anti-inflammatory medication. This data depicts the diagnostic challenges of medical professionals may encounter when confronted with musician's focal dystonia.

Rating scales for musician's dystonia

PubMed Central

Berque, Patrice; Jabusch, Hans-Christian; Altenmüller, Eckart; Frucht, Steven J.

2013-01-01

Musician's dystonia (MD) is a focal adult-onset dystonia most commonly involving the hand. It has much greater relative prevalence than non-musician’s focal hand dystonias, exhibits task specificity at the level of specific musical passages, and is a particularly difficult form of dystonia to treat. For most MD patients, the diagnosis confirms the end of their music performance careers. Research on treatments and pathophysiology is contingent upon measures of motor function abnormalities. In this review, we comprehensively survey the literature to identify the rating scales used in MD and the distribution of their use. We also summarize the extent to which the scales have been evaluated for their clinical utility, including reliability, validity, sensitivity, specificity to MD, and practicality for a clinical setting. Out of 135 publications, almost half (62) included no quantitative measures of motor function. The remaining 73 studies used a variety of choices from among 10 major rating scales. Most used subjective scales involving either patient or clinician ratings. Only 25% (18) of the studies used objective scales. None of the scales has been completely and rigorously evaluated for clinical utility. Whether studies involved treatments or pathophysiologic assays, there was a heterogeneous choice of rating scales used with no clear standard. As a result, the collective interpretive value of those studies is limited because the results are confounded by measurement effects. We suggest that the development and widespread adoption of a new clinically useful rating scale is critical for accelerating basic and clinical research in MD. PMID:23884039

Forms of Dystonia

MedlinePlus

... Your Doctor Find a Doctor Finding Support Emotional & Mental Health When a Child is Diagnosed - Resources for Families Frequently Asked Questions Faces of Dystonia Get Involved Donate Stay Connected Special Events Calendar Promote Awareness Join a Support Group Become a Legislative Advocate ...

Development of the Comprehensive Cervical Dystonia Rating Scale: Methodology

PubMed Central

Comella, Cynthia L.; Fox, Susan H.; Bhatia, Kailash P.; Perlmutter, Joel S.; Jinnah, Hyder A.; Zurowski, Mateusz; McDonald, William M.; Marsh, Laura; Rosen, Ami R.; Waliczek, Tracy; Wright, Laura J.; Galpern, Wendy R.; Stebbins, Glenn T.

2016-01-01

We present the methodology utilized for development and clinimetric testing of the Comprehensive Cervical Dystonia (CD) Rating scale, or CCDRS. The CCDRS includes a revision of the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS-2), a newly developed psychiatric screening tool (TWSTRS-PSYCH), and the previously validated Cervical Dystonia Impact Profile (CDIP-58). For the revision of the TWSTRS, the original TWSTRS was examined by a committee of dystonia experts at a dystonia rating scales workshop organized by the Dystonia Medical Research Foundation. During this workshop, deficiencies in the standard TWSTRS were identified and recommendations for revision of the severity and pain subscales were incorporated into the TWSTRS-2. Given that no scale currently evaluates the psychiatric features of cervical dystonia (CD), we used a modified Delphi methodology and a reiterative process of item selection to develop the TWSTRS-PSYCH. We also included the CDIP-58 to capture the impact of CD on quality of life. The three scales (TWSTRS2, TWSTRS-PSYCH, and CDIP-58) were combined to construct the CCDRS. Clinimetric testing of reliability and validity of the CCDRS are described. The CCDRS was designed to be used in a modular fashion that can measure the full spectrum of CD. This scale will provide rigorous assessment for studies of natural history as well as novel symptom-based or disease-modifying therapies. PMID:27088112

Development of the Comprehensive Cervical Dystonia Rating Scale: Methodology.

PubMed

Comella, Cynthia L; Fox, Susan H; Bhatia, Kailash P; Perlmutter, Joel S; Jinnah, Hyder A; Zurowski, Mateusz; McDonald, William M; Marsh, Laura; Rosen, Ami R; Waliczek, Tracy; Wright, Laura J; Galpern, Wendy R; Stebbins, Glenn T

2015-06-01

We present the methodology utilized for development and clinimetric testing of the Comprehensive Cervical Dystonia (CD) Rating scale, or CCDRS. The CCDRS includes a revision of the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS-2), a newly developed psychiatric screening tool (TWSTRS-PSYCH), and the previously validated Cervical Dystonia Impact Profile (CDIP-58). For the revision of the TWSTRS, the original TWSTRS was examined by a committee of dystonia experts at a dystonia rating scales workshop organized by the Dystonia Medical Research Foundation. During this workshop, deficiencies in the standard TWSTRS were identified and recommendations for revision of the severity and pain subscales were incorporated into the TWSTRS-2. Given that no scale currently evaluates the psychiatric features of cervical dystonia (CD), we used a modified Delphi methodology and a reiterative process of item selection to develop the TWSTRS-PSYCH. We also included the CDIP-58 to capture the impact of CD on quality of life. The three scales (TWSTRS2, TWSTRS-PSYCH, and CDIP-58) were combined to construct the CCDRS. Clinimetric testing of reliability and validity of the CCDRS are described. The CCDRS was designed to be used in a modular fashion that can measure the full spectrum of CD. This scale will provide rigorous assessment for studies of natural history as well as novel symptom-based or disease-modifying therapies.

Clinimetric Testing of the Comprehensive Cervical Dystonia Rating Scale

PubMed Central

Comella, C. L.; Perlmutter, J.S.; Jinnah, H. A.; Waliczek, T. A.; Rosen, A. R.; Galpern, W. R.; Adler, C. H.; Barbano, R. L.; Factor, S. A.; Goetz, C.G.; Jankovic, J.; Reich, S. G.; Rodriguez, R. L.; Severt, W. L.; Zurowski, M.; Fox, S. H.; Stebbins, G.T.

2016-01-01

Objective To test the clinimetric properties of the Comprehensive Cervical Dystonia Rating Scale. Background This is a modular scale with modifications of the Toronto Western Spasmodic Torticollis Rating Scale (composed of three subscales assessing motor severity, disability and pain) now referred to as the revised Toronto Western Spasmodic Torticollis Scale-2.; a newly developed psychiatric screening instrument; and the Cervical Dystonia Impact Profile-58 as a quality of life measure. Methods Ten dystonia experts rated subjects with cervical dystonia using the comprehensive scale. Clinimetric techniques assessed each module of the scale for reliability, item correlation and factor structure. Results There were 208 cervical dystonia patients (73% women, age 59±10 years, duration 15±12 years). The internal consistency of the motor severity subscale was acceptable (Cronbach’s alpha = 0.57). Item to total correlations showed that elimination of items with low correlations (<0.20) increased alpha to 0.71. Internal consistency estimates for the subscales for disability and pain were 0.88 and 0.95 respectively. The psychiatric screening scale had a Cronbach’s alpha of 0.84 and satisfactory item to total correlations. When the subscales of the Toronto Western Spasmodic Torticollis scale -2 were combined with the psychiatric screening scale, Cronbach's alpha was 0.88, and construct validity assessment demonstrated four rational factors: motor, disability, pain and psychiatric disorders. The Cervical Dystonia Impact Profile-58 had an alpha of 0.98 and its construction was validated through a confirmatory factor analysis. Conclusions The modules of the Comprehensive Cervical Dystonia Rating Scale are internally consistent with a logical factor structure. PMID:26971359

Abnormal nuclear envelope in the cerebellar Purkinje cells and impaired motor learning in DYT11 myoclonus-dystonia mouse models.

PubMed

Yokoi, Fumiaki; Dang, Mai T; Yang, Guang; Li, Jindong; Doroodchi, Atbin; Zhou, Tong; Li, Yuqing

2012-02-01

Myoclonus-dystonia (M-D) is a movement disorder characterized by myoclonic jerks with dystonia. DYT11 M-D is caused by mutations in SGCE which codes for ɛ-sarcoglycan. SGCE is maternally imprinted and paternally expressed. Abnormal nuclear envelope has been reported in mouse models of DYT1 generalized torsion dystonia. However, it is not known whether similar alterations occur in DYT11 M-D. We developed a mouse model of DYT11 M-D using paternally inherited Sgce heterozygous knockout (Sgce KO) mice and reported that they had myoclonus and motor coordination and learning deficits in the beam-walking test. However, the specific brain regions that contribute to these phenotypes have not been identified. Since ɛ-sarcoglycan is highly expressed in the cerebellar Purkinje cells, here we examined the nuclear envelope in these cells using a transmission electron microscope and found that they are abnormal in Sgce KO mice. Our results put DYT11 M-D in a growing family of nuclear envelopathies. To analyze the effect of loss of ɛ-sarcoglycan function in the cerebellar Purkinje cells, we produced paternally inherited cerebellar Purkinje cell-specific Sgce conditional knockout (Sgce pKO) mice. Sgce pKO mice showed motor learning deficits, while they did not show abnormal nuclear envelope in the cerebellar Purkinje cells, robust motor deficits, or myoclonus. The results suggest that ɛ-sarcoglycan in the cerebellar Purkinje cells contributes to the motor learning, while loss of ɛ-sarcoglycan in other brain regions may contribute to nuclear envelope abnormality, myoclonus and motor coordination deficits. Copyright © 2011 Elsevier B.V. All rights reserved.

Recognizing the Common Origins of Dystonia and the Development of Human Movement: A Manifesto of Unmet Needs in Isolated Childhood Dystonias

PubMed Central

Lin, Jean-Pierre; Nardocci, Nardo

2016-01-01

Dystonia in childhood may be severely disabling and often unremitting and unrecognized. Considered a rare disorder, dystonic symptoms in childhood are pervasive in many conditions including disorders of developmental delay, cerebral palsy (CP), autism, neurometabolic, neuroinflammatory, and neurogenetic disorders. Collectively, there is a need to recognize the role of early postures and movements which characterize phases of normal fetal, infant, and child development as a backdrop to the many facets of dystonia in early childhood neurological disorders and to be aware of the developmental context of dystonic symptoms. The role of cocontraction is explored throughout infancy, childhood, young adulthood, and in the elderly. Under-recognition of pervasive dystonic disorders of childhood, including within CP is reviewed. Original descriptions of CP by Gowers are reviewed and contemporary physiological demonstrations are used to illustrate support for an interpretation of the tonic labyrinthine response as a manifestation of dystonia. Early recognition and molecular diagnosis of childhood dystonia where possible are desirable for appropriate clinical stratification and future precision medicine and functional neurosurgery where appropriate. A developmental neurobiological perspective could also be useful in exploring new clinical strategies for adult-onset dystonia disorders focusing on environmental and molecular interactions and systems behaviors. PMID:28066314

Bruxism in craniocervical dystonia: a prospective study.

PubMed

Borie, Laetitia; Langbour, Nicolas; Guehl, Dominique; Burbaud, Pierre; Ella, Bruno

2016-09-01

Bruxism pathophysiology remains unclear, and its occurrence has been poorly investigated in movement disorders. The aim of this study was to compare the frequency of bruxism in patients with craniocervical dystonia vs. normal controls and to determine its associated clinical features. This is a prospective-control study. A total of 114 dystonic subjects (45 facial dystonia, 69 cervical dystonia) and 182 controls were included. Bruxism was diagnosed using a hetero-questionnaire and a clinical examination performed by trained dentists. Occurrence of bruxism was compared between the different study populations. A binomial logistic regression analysis was used to determine which clinical features influenced bruxism occurrence in each population. The frequency of bruxism was significantly higher in the dystonic group than in normal controls but there was no difference between facial and cervical dystonia. It was also higher in women than in men. Bruxism features were similar between normal controls and dystonic patients except for a higher score of temporomandibular jaw pain in the dystonic group. The higher frequency of bruxism in dystonic patients suggests that bruxism is increased in patients with basal ganglia dysfunction but that its nature does not differ from that seen in bruxers from the normal population.

The occurrence of dystonia in upper-limb multiple sclerosis tremor.

PubMed

Van der Walt, A; Buzzard, K; Sung, S; Spelman, T; Kolbe, S C; Marriott, M; Butzkueven, H; Evans, A

2015-12-01

The pathophysiology of multiple sclerosis (MS) tremor is uncertain with limited phenotypical studies available. To investigate whether dystonia contributes to MS tremor and its severity. MS patients (n = 54) with and without disabling uni- or bilateral upper limb tremor were recruited (39 limbs per group). We rated tremor severity, writing and Archimedes spiral drawing; cerebellar dysfunction (SARA score); the Global Dystonia Scale (GDS) for proximal and distal upper limbs, dystonic posturing, mirror movements, geste antagoniste, and writer's cramp. Geste antagoniste, mirror dystonia, and dystonic posturing were more frequent and severe (p < 0.001) and dystonia scores were correlated with tremor severity in tremor compared to non-tremor patients. A 1-unit increase in distal dystonia predicted a 0.52-Bain unit (95% confidence interval (CI) 0.08-0.97), p = 0.022) increase in tremor severity and a 1-unit (95% CI 0.48-1.6, p = 0.001) increase in drawing scores. A 1-unit increase in proximal dystonia predicted 0.93-Bain unit increase (95% CI 0.45-1.41, p < 0.001) in tremor severity and 1.5-units (95% CI 0.62-2.41, p = 0.002) increase in the drawing score. Cerebellar function in the tremor limb and tremor severity was correlated (p < 0.001). Upper limb dystonia is common in MS tremor suggesting that MS tremor pathophysiology involves cerebello-pallido-thalamo-cortical network dysfunction. © The Author(s), 2015.

Striatal cholinergic dysfunction as a unifying theme in the pathophysiology of dystonia

PubMed Central

Jaunarajs, K.L. Eskow; Bonsi, P.; Chesselet, M.F.; Standaert, D.G.; Pisani, A.

2015-01-01

Dystonia is a movement disorder of both genetic and non-genetic causes, which typically results in twisted posturing due to abnormal muscle contraction. Evidence from dystonia patients and animal models of dystonia indicate a crucial role for the striatal cholinergic system in the pathophysiology of dystonia. In this review, we focus on striatal circuitry and the centrality of the acetylcholine system in the function of the basal ganglia in the control of voluntary movement and ultimately clinical manifestion of movement disorders. We consider the impact of cholinergic interneurons (ChIs) on dopamine-acetylcholine interactions and examine new evidence for impairment of ChIs in dysfunction of the motor systems producing dystonic movements, particularly in animal models. We have observed paradoxical excitation of ChIs in the presence of dopamine D2 receptor agonists and impairment of striatal synaptic plasticity in a mouse model of DYT1 dystonia, which are improved by administration of recently developed M1 receptor antagonists. These findings have been confirmed across multiple animal models of DYT1 dystonia and may represent a common endophenotype by which to investigate dystonia induced by other types of genetic and non-genetic causes and to investigate the potential effectiveness of pharmacotherapeutics and other strategies to improve dystonia. PMID:25697043

The challenge of diagnosing focal hand dystonia in musicians

PubMed Central

Rosset-Llobet, J.; Candia, V.; Molas, S. Fàbregas i; Dolors Rosinés i Cubells, D.; Pascual-Leone, A.

2012-01-01

Background and purpose To most clinicians, medical problems in musicians, particularly those concerning focal hand dystonia, constitute an unfamiliar domain difficult to manage. The latter can importantly influence diagnostics and the course of treatment. The purpose of this study was to enlighten the issue and to identify possible problems in diagnosing musicians’ cramp within the Spanish medical community. Methods We used a brief questions’ catalog and clinical histories of 665 musicians seen at our clinic for performing artists. We analyzed patients’ diagnosis records in 87 cases of focal hand dystonia (13.1%). In so doing, we surveyed previous diagnoses and diverse treatments prescriptions prior to referral to our clinic. Results Referrals came primarily from orthopaedists and neurologists. The 52.9% arrived at our clinic without a diagnosis or a suspicion of suffering from focal dystonia. The most frequently attempted diagnoses other than musicians’ dystonia included nerve compression, tendonitis and trigger fingers. Commonly prescribed treatments included rest, various surgical procedures, physiotherapy and oral anti-inflammatory medication. Conclusions This data depicts the diagnostic challenges of medical professionals may encounter when confronted with musician’s focal dystonia. PMID:19473363

Basic Timing Abilities Stay Intact in Patients with Musician's Dystonia

PubMed Central

van der Steen, M. C.; van Vugt, Floris T.; Keller, Peter E.; Altenmüller, Eckart

2014-01-01

Task-specific focal dystonia is a movement disorder that is characterized by the loss of voluntary motor control in extensively trained movements. Musician's dystonia is a type of task-specific dystonia that is elicited in professional musicians during instrumental playing. The disorder has been associated with deficits in timing. In order to test the hypothesis that basic timing abilities are affected by musician's dystonia, we investigated a group of patients (N = 15) and a matched control group (N = 15) on a battery of sensory and sensorimotor synchronization tasks. Results did not show any deficits in auditory-motor processing for patients relative to controls. Both groups benefited from a pacing sequence that adapted to their timing (in a sensorimotor synchronization task at a stable tempo). In a purely perceptual task, both groups were able to detect a misaligned metronome when it was late rather than early relative to a musical beat. Overall, the results suggest that basic timing abilities stay intact in patients with musician's dystonia. This supports the idea that musician's dystonia is a highly task-specific movement disorder in which patients are mostly impaired in tasks closely related to the demands of actually playing their instrument. PMID:24667273

Factors influencing response to Botulinum toxin type A in patients with idiopathic cervical dystonia: results from an international observational study

PubMed Central

Ehler, Edvard; Zakine, Benjamin; Maisonobe, Pascal; Simonetta-Moreau, Marion

2012-01-01

Objectives Real-life data on response to Botulinum toxin A (BoNT-A) in cervical dystonia (CD) are sparse. An expert group of neurologists was convened with the overall aim of developing a definition of treatment response, which could be applied in a non-interventional study of BoNT-A-treated subjects with CD. Design International, multicentre, prospective, observational study of a single injection cycle of BoNT-A as part of normal clinical practice. Setting 38 centres across Australia, Belgium, Czech Republic, France, Germany, The Netherlands, Portugal, Russia and the UK. Participants 404 adult subjects with idiopathic CD. Most subjects were women, aged 41–60 years and had previously received BoNT-A. Outcome measures Patients were classified as responders if they met all the following four criteria: magnitude of effect (≥25% improvement Toronto Western Spasmodic Torticollis Rating Scale), duration of effect (≥12-week interval between the BoNT-A injection day and subject-reported waning of treatment effect), tolerability (absence of severe related adverse event) and subject's positive Clinical Global Improvement (CGI). Results High rates of response were observed for magnitude of effect (73.6%), tolerability (97.5%) and subject's clinical global improvement (69.8%). The subjective duration of effect criterion was achieved by 49.3% of subjects; 28.6% of subjects achieved the responder definition. Factors most strongly associated with response were age (<40 years; OR 3.9, p<0.05) and absence of baseline head tremor (OR 1.5; not significant). Conclusions Three of four criteria were met by most patients. The proposed multidimensional definition of response appears to be practical for routine practice. Unrealistically high patient expectation and subjectivity may influence the perception of a quick waning of effect, but highlights that this aspect may be a hurdle to response in some patients. Clinical registration number (NCT00833196; ClinicalTrials.gov). PMID

Electromyographic and Joint Kinematic Patterns in Runner's Dystonia.

PubMed

Ahmad, Omar F; Ghosh, Pritha; Stanley, Christopher; Karp, Barbara; Hallett, Mark; Lungu, Codrin; Alter, Katharine

2018-04-20

Runner’s dystonia (RD) is a task-specific focal dystonia of the lower limbs that occurs when running. In this retrospective case series, we present surface electromyography (EMG) and joint kinematic data from thirteen patients with RD who underwent instrumented gait analysis (IGA) at the Functional and Biomechanics Laboratory at the National Institutes of Health. Four cases of RD are described in greater detail to demonstrate the potential utility of EMG with kinematic studies to identify dystonic muscle groups in RD. In these cases, the methodology for muscle selection for botulinum toxin therapy and the therapeutic response is discussed. Lateral heel whip, a proposed novel presentation of lower-limb dystonia, is also described.

An fMRI study of musicians with focal dystonia during tapping tasks.

PubMed

Kadota, Hiroshi; Nakajima, Yasoichi; Miyazaki, Makoto; Sekiguchi, Hirofumi; Kohno, Yutaka; Amako, Masatoshi; Arino, Hiroshi; Nemoto, Koichi; Sakai, Naotaka

2010-07-01

Musician's dystonia is a type of task specific dystonia for which the pathophysiology is not clear. In this study, we performed functional magnetic resonance imaging to investigate the motor-related brain activity associated with musician's dystonia. We compared brain activities measured from subjects with focal hand dystonia and normal (control) musicians during right-hand, left-hand, and both-hands tapping tasks. We found activations in the thalamus and the basal ganglia during the tapping tasks in the control group but not in the dystonia group. For both groups, we detected significant activations in the contralateral sensorimotor areas, including the premotor area and cerebellum, during each tapping task. Moreover, direct comparison between the dystonia and control groups showed that the dystonia group had greater activity in the ipsilateral premotor area during the right-hand tapping task and less activity in the left cerebellum during the both-hands tapping task. Thus, the dystonic musicians showed irregular activation patterns in the motor-association system. We suggest that irregular neural activity patterns in dystonic subjects reflect dystonic neural malfunction and consequent compensatory activity to maintain appropriate voluntary movements.

Limb Amputations in Fixed Dystonia: A Form of Body Integrity Identity Disorder?

PubMed Central

Edwards, Mark J; Alonso-Canovas, Araceli; Schrag, Arnette; Bloem, Bastiaan R; Thompson, Philip D; Bhatia, Kailash

2011-01-01

Fixed dystonia is a disabling disorder mainly affecting young women who develop fixed abnormal limb postures and pain after apparently minor peripheral injury. There is continued debate regarding its pathophysiology and management. We report 5 cases of fixed dystonia in patients who sought amputation of the affected limb. We place these cases in the context of previous reports of patients with healthy limbs and patients with chronic regional pain syndrome who have sought amputation. Our cases, combined with recent data regarding disorders of mental rotation in patients with fixed dystonia, as well as previous data regarding body integrity identity disorder and amputations sought by patients with chronic regional pain syndrome, raise the possibility that patients with fixed dystonia might have a deficit in body schema that predisposes them to developing fixed dystonia and drives some to seek amputation. The outcome of amputation in fixed dystonia is invariably unfavorable. © 2011 Movement Disorder Society PMID:21484872

Limb amputations in fixed dystonia: a form of body integrity identity disorder?

PubMed

Edwards, Mark J; Alonso-Canovas, Araceli; Schrag, Arnette; Bloem, Bastiaan R; Thompson, Philip D; Bhatia, Kailash

2011-07-01

Fixed dystonia is a disabling disorder mainly affecting young women who develop fixed abnormal limb postures and pain after apparently minor peripheral injury. There is continued debate regarding its pathophysiology and management. We report 5 cases of fixed dystonia in patients who sought amputation of the affected limb. We place these cases in the context of previous reports of patients with healthy limbs and patients with chronic regional pain syndrome who have sought amputation. Our cases, combined with recent data regarding disorders of mental rotation in patients with fixed dystonia, as well as previous data regarding body integrity identity disorder and amputations sought by patients with chronic regional pain syndrome, raise the possibility that patients with fixed dystonia might have a deficit in body schema that predisposes them to developing fixed dystonia and drives some to seek amputation. The outcome of amputation in fixed dystonia is invariably unfavorable. Copyright © 2011 Movement Disorder Society.

The BiP Molecular Chaperone Plays Multiple Roles during the Biogenesis of TorsinA, an AAA+ ATPase Associated with the Neurological Disease Early-onset Torsion Dystonia*

PubMed Central

Zacchi, Lucía F.; Wu, Hui-Chuan; Bell, Samantha L.; Millen, Linda; Paton, Adrienne W.; Paton, James C.; Thomas, Philip J.; Zolkiewski, Michal; Brodsky, Jeffrey L.

2014-01-01

Early-onset torsion dystonia (EOTD) is a neurological disorder characterized by involuntary and sustained muscle contractions that can lead to paralysis and abnormal posture. EOTD is associated with the deletion of a glutamate (ΔE) in torsinA, an endoplasmic reticulum (ER) resident AAA+ ATPase. To date, the effect of ΔE on torsinA and the reason that this mutation results in EOTD are unclear. Moreover, there are no specific therapeutic options to treat EOTD. To define the underlying biochemical defects associated with torsinAΔE and to uncover factors that might be targeted to offset defects associated with torsinAΔE, we developed a yeast torsinA expression system and tested the roles of ER chaperones in mediating the folding and stability of torsinA and torsinAΔE. We discovered that the ER lumenal Hsp70, BiP, an associated Hsp40, Scj1, and a nucleotide exchange factor, Lhs1, stabilize torsinA and torsinAΔE. BiP also maintained torsinA and torsinAΔE solubility. Mutations predicted to compromise specific torsinA functional motifs showed a synthetic interaction with the ΔE mutation and destabilized torsinAΔE, suggesting that the ΔE mutation predisposes torsinA to defects in the presence of secondary insults. In this case, BiP was required for torsinAΔE degradation, consistent with data that specific chaperones exhibit either pro-degradative or pro-folding activities. Finally, using two independent approaches, we established that BiP stabilizes torsinA and torsinAΔE in mammalian cells. Together, these data define BiP as the first identified torsinA chaperone, and treatments that modulate BiP might improve symptoms associated with EOTD. PMID:24627482

New onset of idiopathic bilateral ear tics in an adult.

PubMed

Agrawal, Amit; Shrestha, Rabin

2009-04-01

Tic disorders are commonly considered to be childhood syndromes. Newly presenting tic disorders during adulthood are uncommon and mostly described in relation to an acquired brain lesion or as incidental tics, particularly in context with other neurological or psychiatric diseases. Tic disorder involving the ears is extremely uncommon with only few studies in English literature. In the present case, we describe an adult patient with new-onset idiopathic tics disorder involving both ears, causing social embarrassment. In addition, our patient had recent onset of the tics without any childhood or family history of tic disorders. The single most important component of management is an accurate diagnosis. At the same time, tics should be differentiated from other movement disorders such as chorea, stereotypy, and dystonias.

Mental rotation of body parts and sensory temporal discrimination in fixed dystonia.

PubMed

Katschnig, Petra; Edwards, Mark J; Schwingenschuh, Petra; Aguirregomozcorta, Maria; Kägi, Georg; Rothwell, John C; Bhatia, Kailash P

2010-06-15

Fixed dystonia is an uncommon but severely disabling condition typically affecting young women following a minor peripheral injury. There is no evidence of any structural lesions of the central nervous system nor any clear peripheral nerve or root damage. Electrophysiological techniques such as short intracortical inhibition, cortical silent period and a plasticity inducing protocol have revealed similarities but also differences compared to classical mobile dystonia. To further explore the pathophysiology of fixed dystonia we compared mental rotation of body parts and sensory temporal discrimination in 11 patients with fixed dystonia, 11 patients with classical mobile dystonia and 10 healthy controls. In the mental rotation task subjects were presented with realistic photos of left or right hands, feet and the head of a young women with a black patch covering the left or the right eye in six different orientations. Subjects had to verbally report the laterality of the presented stimuli. To assess sensory temporal discrimination subjects were asked to discriminate whether pairs of visual, tactile (electrical), or visuo-tactile stimuli were simultaneous or sequential (temporal discrimination threshold) and in the latter case which stimulus preceded the other (temporal order judgement). In accordance with previous studies patients with mobile dystonia were abnormal in mental rotation and temporal discrimination, whereas patients with fixed dystonia were only impaired in mental rotation. Possible explanations for this deficit may include the influence of the abnormal body posture itself, a shared predisposing pathophysiology for mobile and fixed dystonia, or a body image disturbance. These findings add information to the developing pathophysiological picture of fixed dystonia. (c) 2010 Movement Disorder Society.

Temporal discrimination, a cervical dystonia endophenotype: penetrance and functional correlates.

PubMed

Kimmich, Okka; Molloy, Anna; Whelan, Robert; Williams, Laura; Bradley, David; Balsters, Joshua; Molloy, Fiona; Lynch, Tim; Healy, Daniel G; Walsh, Cathal; O'Riordan, Seán; Reilly, Richard B; Hutchinson, Michael

2014-05-01

The pathogenesis of adult-onset primary dystonia remains poorly understood. There is variable age-related and gender-related expression of the phenotype, the commonest of which is cervical dystonia. Endophenotypes may provide insight into underlying genetic and pathophysiological mechanisms of dystonia. The temporal discrimination threshold (TDT)-the shortest time interval at which two separate stimuli can be detected as being asynchronous-is abnormal both in patients with cervical dystonia and in their unaffected first-degree relatives. Functional magnetic resonance imaging (fMRI) studies have shown that putaminal activation positively correlates with the ease of temporal discrimination between two stimuli in healthy individuals. We hypothesized that abnormal temporal discrimination would exhibit similar age-related and gender-related penetrance as cervical dystonia and that unaffected relatives with an abnormal TDT would have reduced putaminal activation during a temporal discrimination task. TDTs were examined in a group of 192 healthy controls and in 158 unaffected first-degree relatives of 84 patients with cervical dystonia. In 24 unaffected first-degree relatives, fMRI scanning was performed during a temporal discrimination task. The prevalence of abnormal TDTs in unaffected female relatives reached 50% after age 48 years; whereas, in male relatives, penetrance of the endophenotype was reduced. By fMRI, relatives who had abnormal TDTs, compared with relatives who had normal TDTs, had significantly less activation in the putamina and in the middle frontal and precentral gyri. Only the degree of reduction of putaminal activity correlated significantly with worsening of temporal discrimination. These findings further support abnormal temporal discrimination as an endophenotype of cervical dystonia involving disordered basal ganglia circuits. © 2014 International Parkinson and Movement Disorder Society.

Ozil IP torsional mode versus combined torsional/longitudinal microcoaxial phacoemulsification.

PubMed

Helvacioglu, Firat; Tunc, Zeki; Yeter, Celal; Oguzhan, Hasan; Sencan, Sadik

2012-01-01

To compare the safety and efficacy of microcoaxial phacoemulsification surgeries performed with the Ozil Intelligent Phaco (IP) torsional mode and combined torsional/longitudinal ultrasound (US) mode using the Infiniti Vision System (Alcon Laboratories). In this prospective randomized comparative study, 60 eyes were assigned to 2.2-mm microcoaxial phacoemulsification using the Ozil IP torsional mode (group 1) or combined torsional/longitudinal US mode (group 2). The primary outcome measures were US time (UST), cumulative dissipated energy (CDE), longitudinal and torsional ultrasound amplitudes, mean operation time, mean volume of balanced salt solution (BSS) used, and surgical complications. Both groups included 30 eyes. Mean UST, CDE, and longitudinal and torsional ultrasound amplitudes in group 1 were 1 minute 15±34.33 seconds, 8.74±5.64, 0.43±0.74, and 25.56±8.56, respectively, and these parameters in group 2 were 1 minute 40±51.44 seconds, 9.28±5.99, 3.64±1.55, and 3.71±1.34, respectively. UST and longitudinal amplitudes were found to be significantly low in group 1 (p<0.001, p<0.001), whereas torsional amplitude was found to be significantly high in this group (p=0.001). Mean volumes of BSS used in groups 1 and 2 were 63.30±18.00 cc and 84.50±28.65 cc, respectively (p=0.001). The Ozil IP torsional mode may provide more effective lens removal than the combined torsional/longitudinal US mode with a lower UST and volume of BSS used.

Neurophysiological correlates of abnormal somatosensory temporal discrimination in dystonia.

PubMed

Antelmi, Elena; Erro, Roberto; Rocchi, Lorenzo; Liguori, Rocco; Tinazzi, Michele; Di Stasio, Flavio; Berardelli, Alfredo; Rothwell, John C; Bhatia, Kailash P

2017-01-01

Somatosensory temporal discrimination threshold is often prolonged in patients with dystonia. Previous evidence suggested that this might be caused by impaired somatosensory processing in the time domain. Here, we tested if other markers of reduced inhibition in the somatosensory system might also contribute to abnormal somatosensory temporal discrimination in dystonia. Somatosensory temporal discrimination threshold was measured in 19 patients with isolated cervical dystonia and 19 age-matched healthy controls. We evaluated temporal somatosensory inhibition using paired-pulse somatosensory evoked potentials, spatial somatosensory inhibition by measuring the somatosensory evoked potentials interaction between simultaneous stimulation of the digital nerves in thumb and index finger, and Gamma-aminobutyric acid-ergic (GABAergic) sensory inhibition using the early and late components of high-frequency oscillations in digital nerves somatosensory evoked potentials. When compared with healthy controls, dystonic patients had longer somatosensory temporal discrimination thresholds, reduced suppression of cortical and subcortical paired-pulse somatosensory evoked potentials, less spatial inhibition of simultaneous somatosensory evoked potentials, and a smaller area of the early component of the high-frequency oscillations. A logistic regression analysis found that paired pulse suppression of the N20 component at an interstimulus interval of 5 milliseconds and the late component of the high-frequency oscillations were independently related to somatosensory temporal discrimination thresholds. "Dystonia group" was also a predictor of enhanced somatosensory temporal discrimination threshold, indicating a dystonia-specific effect that independently influences this threshold. Increased somatosensory temporal discrimination threshold in dystonia is related to reduced activity of inhibitory circuits within the primary somatosensory cortex. © 2016 International Parkinson and

Specific muscle EMG biofeedback for hand dystonia.

PubMed

Deepak, K K; Behari, M

1999-12-01

Currently available therapies have only limited success in patients having hand dystonia (writer's cramp). We employed specific muscle EMG biofeedback (audio feedback of the EMG from proximal large muscles of the limb that show abnormally high activity during writing) in 10 of 13 consecutive patients (age, 19-62 years; all males) with a duration of illness from 6 months to 8 years. In three patients, biofeedback was not applicable due to lack of abnormal EMG values. Nine patients showed dystonic posture during writing and had hypertrophy of one or more large muscles of the dominant hand. The remaining four patients showed either involvement of small muscles or muscle wasting. Ten patients were given four or more sessions of EMG audio biofeedback from the proximal large limb muscles, which showed maximum EMG activity. They also practiced writing daily with the relaxed limb for 5 to 10 min. Nine patients showed improvement from 37 to 93% in handwriting, alleviation of discomfort, and pain (assessed on a visual analogue scale). One patient did not show any improvement. Thus EMG biofeedback improved the clinical and electromyographic picture in those patients with hand dystonia who showed EMG overactivity of proximal limb muscles during writing. This specific type of EMG biofeedback appears to be a promising tool for hand dystonia and might also be applied to other types of dystonias.

Mind the gap: temporal discrimination and dystonia.

PubMed

Sadnicka, A; Daum, C; Cordivari, C; Bhatia, K P; Rothwell, J C; Manohar, S; Edwards, M J

2017-06-01

One of the most widely studied perceptual measures of sensory dysfunction in dystonia is the temporal discrimination threshold (TDT) (the shortest interval at which subjects can perceive that there are two stimuli rather than one). However the elevated thresholds described may be due to a number of potential mechanisms as current paradigms test not only temporal discrimination but also extraneous sensory and decision-making parameters. In this study two paradigms designed to better quantify temporal processing are presented and a decision-making model is used to assess the influence of decision strategy. 22 patients with cervical dystonia and 22 age-matched controls completed two tasks (i) temporal resolution (a randomized, automated version of existing TDT paradigms) and (ii) interval discrimination (rating the length of two consecutive intervals). In the temporal resolution task patients had delayed (P = 0.021) and more variable (P = 0.013) response times but equivalent discrimination thresholds. Modelling these effects suggested this was due to an increased perceptual decision boundary in dystonia with patients requiring greater evidence before committing to decisions (P = 0.020). Patient performance on the interval discrimination task was normal. Our work suggests that previously observed abnormalities in TDT may not be due to a selective sensory deficit of temporal processing as decision-making itself is abnormal in cervical dystonia. © 2017 EAN.

[Questionnaire survey of musician's dystonia among students of a music college].

PubMed

Konaka, Kuni; Mochizuki, Hideki

2015-01-01

Musician's dystonia is known as a task specific dystonia. Though it is thought to occur during a long course of repetitive performance, the actual circumstances that precipitate this condition are not clear. According to factual reports this disease is not commonly known, probably because many of these patients may not have been visiting a hospital. We prepared a questionnaire and did a survey among the students of a music college. This is the first questionnaire survey aimed at finding out the prevalence of musician's dystonia among the students of music. Among the 480 participants of this survey, 29% of the students had knowledge of this disorder and 1.25% of the students had dystonia while performing music.

Clinical and Demographic Characteristics Related to Onset

PubMed Central

Norris, Scott A; Jinnah, H A; Espay, Alberto J.; Klein, Christine; Brüggemann, Norbert; Barbano, Richard L.; Malaty, Irene; Rodriguez, Ramon L.; Vidailhet, Marie; Roze, Emmanuel; Reich, Stephen G.; Berman, Brian D.; LeDoux, Mark S.; Richardson, Sarah Pirio; Agarwal, Pinky; Mari, Zoltan; Ondo, William; Shih, Ludy C; Fox, Susan; Berardelli, Alfredo; Testa, Claudia M; Chang, Florence CF; Troung, Daniel; Nahab, Fatta; Xie, Tao; Hallett, Mark; Rosen, Ami R; Wright, Laura J; Perlmutter, JS

2016-01-01

Background Clinical characteristics of isolated, idiopathic cervical dystonia such as onset site and spread to and from additional body regions have been addressed in single-site studies with limited data and incomplete or variable dissociation of focal and segmental subtypes. Objectives To characterize clinical characteristics and demographics of isolated, idiopathic cervical dystonia in the largest standardized, multicenter cohort. Methods The Dystonia Coalition, through a consortium of 37 recruiting sites in North America, Europe and Australia recruited 1477 participants with focal (60.7%) or segmental (39.3%) cervical dystonia on examination. Clinical and demographic characteristics were evaluated in terms of the body region of dystonia onset and spread. Results Site of dystonia onset was: a) focal neck only (78.5%), b) focal onset elsewhere with later segmental spread to neck (13.3%), and c) segmental onset with initial neck involvement (8.2%).Frequency of spread from focal cervical to segmental dystonia (22.8%) was consistent with prior reports, but frequency of segmental onset with initial neck involvement was substantially higher than 3% previously reported. Cervical dystonia with focal neck onset, more than other subtypes, is associated with spread and tremor of any type. Sensory tricks were less frequent in cervical dystonia with segmental components, and segmental cervical onset occurred at an older age. Conclusions Subgroups had modest but significant differences in the clinical characteristics that may represent different clinical entities or pathophysiologic subtypes. These findings are critical for design and implementation of studies to describe, treat, or modify disease progression in idiopathic isolated cervical dystonia. PMID:27753188

Dystonia Medical Research Foundation

MedlinePlus

... Your Doctor Find a Doctor Finding Support Emotional & Mental Health When a Child is Diagnosed - Resources for Families Frequently Asked Questions Faces of Dystonia Get Involved Donate Stay Connected Special Events Calendar Promote Awareness Join a Support Group Become a Legislative Advocate ...

Variable stiffness torsion springs

NASA Astrophysics Data System (ADS)

Alhorn, Dean C.; Polites, Michael E.

1994-05-01

In a torsion spring the spring action is a result of the relationships between the torque applied in twisting the spring, the angle through which the torsion spring twists, and the modulus of elasticity of the spring material in shear. Torsion springs employed industrially have been strips, rods, or bars, generally termed shafts, capabable of being flexed by twisting their axes. They rely on the variations in shearing forces to furnish an internal restoring torque. In the torsion springs herein the restoring torque is external and therefore independent of the shearing modulus of elasticity of the torsion spring shaft. Also provided herein is a variable stiffness torsion spring. This torsion spring can be so adjusted as to have a given spring constant. Such variable stiffness torsion springs are extremely useful in gimballed payloads such as sensors, telescopes, and electronic devices on such platforms as a space shuttle or a space station.

Variable stiffness torsion springs

NASA Technical Reports Server (NTRS)

Alhorn, Dean C. (Inventor); Polites, Michael E. (Inventor)

1995-01-01

In a torsion spring the spring action is a result of the relationships between the torque applied in twisting the spring, the angle through which the torsion spring twists, and the modulus of elasticity of the spring material in shear. Torsion springs employed industrially have been strips, rods, or bars, generally termed shafts, capabable of being flexed by twisting their axes. They rely on the variations in shearing forces to furnish an internal restoring torque. In the torsion springs herein the restoring torque is external and therefore independent of the shearing modulus of elasticity of the torsion spring shaft. Also provided herein is a variable stiffness torsion spring. This torsion spring can be so adjusted as to have a given spring constant. Such variable stiffness torsion springs are extremely useful in gimballed payloads such as sensors, telescopes, and electronic devices on such platforms as a space shuttle or a space station.

Variable stiffness torsion springs

NASA Astrophysics Data System (ADS)

Alhorn, Dean C.; Polites, Michael E.

1995-08-01

In a torsion spring the spring action is a result of the relationships between the torque applied in twisting the spring, the angle through which the torsion spring twists, and the modulus of elasticity of the spring material in shear. Torsion springs employed industrially have been strips, rods, or bars, generally termed shafts, capabable of being flexed by twisting their axes. They rely on the variations in shearing forces to furnish an internal restoring torque. In the torsion springs herein the restoring torque is external and therefore independent of the shearing modulus of elasticity of the torsion spring shaft. Also provided herein is a variable stiffness torsion spring. This torsion spring can be so adjusted as to have a given spring constant. Such variable stiffness torsion springs are extremely useful in gimballed payloads such as sensors, telescopes, and electronic devices on such platforms as a space shuttle or a space station.

Variable stiffness torsion springs

NASA Technical Reports Server (NTRS)

Alhorn, Dean C. (Inventor); Polites, Michael E. (Inventor)

1994-01-01

In a torsion spring the spring action is a result of the relationships between the torque applied in twisting the spring, the angle through which the torsion spring twists, and the modulus of elasticity of the spring material in shear. Torsion springs employed industrially have been strips, rods, or bars, generally termed shafts, capabable of being flexed by twisting their axes. They rely on the variations in shearing forces to furnish an internal restoring torque. In the torsion springs herein the restoring torque is external and therefore independent of the shearing modulus of elasticity of the torsion spring shaft. Also provided herein is a variable stiffness torsion spring. This torsion spring can be so adjusted as to have a given spring constant. Such variable stiffness torsion springs are extremely useful in gimballed payloads such as sensors, telescopes, and electronic devices on such platforms as a space shuttle or a space station.

Improvement of both dystonia and tics with 60 Hz pallidal deep brain stimulation.

PubMed

Hwynn, Nelson; Tagliati, Michele; Alterman, Ron L; Limotai, Natlada; Zeilman, Pamela; Malaty, Irene A; Foote, Kelly D; Morishita, Takashi; Okun, Michael S

2012-09-01

Deep brain stimulation has been utilized in both dystonia and in medication refractory Tourette syndrome. We present an interesting case of a patient with a mixture of disabling dystonia and Tourette syndrome whose coexistent dystonia and tics were successfully treated with 60 Hz-stimulation of the globus pallidus region.

Electromyographic and Joint Kinematic Patterns in Runner’s Dystonia

PubMed Central

Ahmad, Omar F.; Ghosh, Pritha; Stanley, Christopher; Karp, Barbara; Hallett, Mark; Lungu, Codrin

2018-01-01

Runner’s dystonia (RD) is a task-specific focal dystonia of the lower limbs that occurs when running. In this retrospective case series, we present surface electromyography (EMG) and joint kinematic data from thirteen patients with RD who underwent instrumented gait analysis (IGA) at the Functional and Biomechanics Laboratory at the National Institutes of Health. Four cases of RD are described in greater detail to demonstrate the potential utility of EMG with kinematic studies to identify dystonic muscle groups in RD. In these cases, the methodology for muscle selection for botulinum toxin therapy and the therapeutic response is discussed. Lateral heel whip, a proposed novel presentation of lower-limb dystonia, is also described. PMID:29677101

[Sotos syndrome associated with focal dystonia].

PubMed

Bravo, M; Chacón, J; Bautista, E; Pérez-Camacho, I; Trujillo, A; Grande, M A

Sotos syndrome is a form of infantile gigantism characterized by excessive body size from the time of birth, particular facies, acromegalic changes and signs of non-progressive cerebral involvement. The etiology is unknown. Diagnosis is based on somatometric data and the particular phenotype traits. Biochemical and endocrine studies are normal. Torticollis is a focal dystonia and therefore more common in adults. A 20 year old woman with macrosomic features since birth presented with: weight 104 kg, height 182 cm; prognathism, hypertelorism, a broad over hanging forehead with a high hair line; large ears, hands and feet; torticollis towards the right with elevation and anteroversion of the right shoulder which caused symptomatic scoliosis. She was bradypsychic and rather slow in speech. The complementary tests done (cerebral and cervical CT and MR, bone gammography, evoked potentials, EMG-ENG, sural nerve biopsy, biopsy of skin and muscle, EEG and hormone and biochemistry studies) were normal. The torticollis was treated with botulinus toxin and improved considerably, as did the scoliosis. To date, dystonia has not been described in association with Sotos syndrome. This may be a causal association, or even perhaps hereditary, since the patient's mother had dystonia (in the form of blepharospasm).

Regaining motor control in musician's dystonia by restoring sensorimotor organization.

PubMed

Rosenkranz, Karin; Butler, Katherine; Williamon, Aaron; Rothwell, John C

2009-11-18

Professional musicians are an excellent model of long-term motor learning effects on structure and function of the sensorimotor system. However, intensive motor skill training has been associated with task-specific deficiency in hand motor control, which has a higher prevalence among musicians (musician's dystonia) than in the general population. Using a transcranial magnetic stimulation paradigm, we previously found an expanded spatial integration of proprioceptive input into the hand motor cortex [sensorimotor organization (SMO)] in healthy musicians. In musician's dystonia, however, this expansion was even larger. Whereas motor skills of musicians are likely to be supported by a spatially expanded SMO, we hypothesized that in musician's dystonia this might have developed too far and now disrupts rather than assists task-specific motor control. If so, motor control should be regained by reversing the excessive reorganization in musician's dystonia. Here, we test this hypothesis and show that a 15 min intervention with proprioceptive input (proprioceptive training) restored SMO in pianists with musician's dystonia to the pattern seen in healthy pianists. Crucially, task-specific motor control improved significantly and objectively as measured with a MIDI (musical instrument digital interface) piano, and the amount of behavioral improvement was significantly correlated to the degree of sensorimotor reorganization. In healthy pianists and nonmusicians, the SMO and motor performance remained essentially unchanged. These findings suggest that the differentiation of SMO in the hand motor cortex and the degree of motor control of intensively practiced tasks are significantly linked and finely balanced. Proprioceptive training restored this balance in musician's dystonia to the behaviorally beneficial level of healthy musicians.

Cognitive function in children with primary dystonia before and after deep brain stimulation.

PubMed

Owen, Tamsin; Gimeno, Hortensia; Selway, Richard; Lin, Jean-Pierre

2015-01-01

Dystonia is characterised by involuntary movements (twisting, writhing and jerking) and postures. The effects of deep brain stimulation (DBS) surgery on the motor aspect of primary dystonias have been well reported, however, there is a paucity of research investigating its impact on cognitive function, particularly in childhood dystonia. We performed a follow-up of cognitive function in children with primary dystonia following DBS pallidal surgery. Cognitive function was measured in a cohort of 13 children with primary or primary plus dystonia who had undergone DBS surgery using a retrospective case series design. Baseline pre-DBS neuropsychological measures were compared to scores obtained at least one year following DBS. Cognitive function was assessed using standardised measures of intellectual ability and memory. All children demonstrated improvements with regard to dystonia reduction, as measured by the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS). Overall, cognition remained stable following DBS in the majority of the cohort. Individual case analysis revealed improvements in some domains of cognitive function in eight members of the cohort and a deterioration of certain domains in four. Cognition largely remained stable in children with primary/primary plus dystonia following DBS surgery, although further research with a larger sample is necessary to explore this statistically. Notwithstanding the limitations of a small size, this preliminary data has potentially positive implications for the impact of DBS on cognitive functioning within a paediatric population. Crown Copyright © 2014. Published by Elsevier Ltd. All rights reserved.

Pain Relief in Cervical Dystonia with Botulinum Toxin Treatment

PubMed Central

Camargo, Carlos Henrique Ferreira; Cattai, Lígia; Teive, Hélio Afonso Ghizoni

2015-01-01

Dystonia is a neurological disorder characterized by intermittent or sustained muscle contractions that cause abnormal, usually repetitive, movements and postures. Dystonic movements can be tremulous and twisting and often follow a pattern. They are frequently associated with overflow muscle activation and may be triggered or worsened by voluntary action. Most voluntary muscles can be affected and, in the case of the neck muscles, the condition is referred to as cervical dystonia (CD), the most common form of dystonia. The high incidence of pain distinguishes CD from other focal dystonias and contributes significantly to patient disability and low quality of life. Different degrees of pain in the cervical region are reported by more than 60% of patients, and pain intensity is directly related to disease severity. Botulinum toxin (BoNT) is currently considered the treatment of choice for CD and can lead to an improvement in pain and dystonic symptoms in up to 90% of patients. The results for BoNT/A and BoNT/B are similar. The complex relationship between pain and dystonia has resulted in a large number of studies and more comprehensive assessments of dystonic patients. When planning the application of BoNT, pain should be a key factor in the choice of muscles and doses. In conclusion, BoNT is highly effective in controlling pain, and its analgesic effect is sustained for a long time in most CD patients. PMID:26110508

Pain Relief in Cervical Dystonia with Botulinum Toxin Treatment.

PubMed

Camargo, Carlos Henrique Ferreira; Cattai, Lígia; Teive, Hélio Afonso Ghizoni

2015-06-23

Dystonia is a neurological disorder characterized by intermittent or sustained muscle contractions that cause abnormal, usually repetitive, movements and postures. Dystonic movements can be tremulous and twisting and often follow a pattern. They are frequently associated with overflow muscle activation and may be triggered or worsened by voluntary action. Most voluntary muscles can be affected and, in the case of the neck muscles, the condition is referred to as cervical dystonia (CD), the most common form of dystonia. The high incidence of pain distinguishes CD from other focal dystonias and contributes significantly to patient disability and low quality of life. Different degrees of pain in the cervical region are reported by more than 60% of patients, and pain intensity is directly related to disease severity. Botulinum toxin (BoNT) is currently considered the treatment of choice for CD and can lead to an improvement in pain and dystonic symptoms in up to 90% of patients. The results for BoNT/A and BoNT/B are similar. The complex relationship between pain and dystonia has resulted in a large number of studies and more comprehensive assessments of dystonic patients. When planning the application of BoNT, pain should be a key factor in the choice of muscles and doses. In conclusion, BoNT is highly effective in controlling pain, and its analgesic effect is sustained for a long time in most CD patients.

Acute hemifacial dystonia possibly induced by clebopride.

PubMed

Bosco, Domenico; Plastino, Massimiliano; Marcello, Maria Giovanna; Mungari, Pasquale; Fava, Antonietta

2009-01-01

Dystonic reactions produce twisting and repetitive movements or abnormal posturing. Severe dystonic reactions have been shown to occur in concert with numerous medications. This report details the case of a patient who developed hemifacial dystonia as acute side reaction from administration of clebopride for dyspeptic prophylaxis. When the drug was immediately stopped, the dystonic posture disappeared completely within 2 weeks. The use of clebopride may be associated with not only a reversible or persistent parkinsonism syndrome but also hemifacial dystonia; therefore, attention must be drawn to this possible side effect.

Pathogenic variants in TUBB4A are not found in primary dystonia

PubMed Central

Vemula, Satya R.; Xiao, Jianfeng; Bastian, Robert W.; Momčilović, Dragana; Blitzer, Andrew

2014-01-01

Objective: To determine the contribution of TUBB4A, recently associated with DYT4 dystonia in a pedigree with “whispering dysphonia” from Norfolk, United Kingdom, to the etiopathogenesis of primary dystonia. Methods: High-resolution melting and Sanger sequencing were used to inspect the entire coding region of TUBB4A in 575 subjects with primary laryngeal, segmental, or generalized dystonia. Results: No pathogenic variants, including the exon 1 variant (c.4C>G) identified in the DYT4 whispering dysphonia kindred, were found in this study. Conclusion: The c.4C>G DYT4 mutation appears to be private, and clinical testing for TUBB4A mutations is not justified in spasmodic dysphonia or other forms of primary dystonia. Moreover, given its allelic association with leukoencephalopathy hypomyelination with atrophy of basal ganglia and cerebellum and protean clinical manifestations (chorea, ataxia, dysarthria, intellectual disability, dysmorphic facial features, and psychiatric disorders), DYT4 should not be categorized as a primary dystonia. PMID:24598712

Children With and Without Dystonia Share Common Muscle Synergies While Performing Writing Tasks.

PubMed

Lunardini, Francesca; Casellato, Claudia; Bertucco, Matteo; Sanger, Terence D; Pedrocchi, Alessandra

2017-08-01

Childhood dystonia is a movement disorder characterized by muscle overflow and variability. This is the first study that investigates upper limb muscle synergies in childhood dystonia with the twofold aim of deepening the understanding of neuromotor dysfunctions and paving the way to possible synergy-based myocontrol interfaces suitable for this neurological population. Nonnegative matrix factorization was applied to the activity of upper-limb muscles recorded during the execution of writing tasks in children with dystonia and age-matched controls. Despite children with dystonia presented compromised kinematics of the writing outcome, a strikingly similarity emerged in the number and structure of the synergy vectors extracted from children in the two groups. The analysis also revealed that the timing of activation of the synergy coefficients did not significantly differ, while the amplitude of the peaks presented a slight reduction. These results suggest that the synergy analysis has the ability of capturing the uncorrupted part of the electromyographic signal in dystonia. Such an ability supports a possible future use of muscle synergies in the design of myocontrol interfaces for children with dystonia.

Genetics Home Reference: myoclonus-dystonia

MedlinePlus

... Page Esapa CT, Waite A, Locke M, Benson MA, Kraus M, McIlhinney RA, Sillitoe RV, Beesley PW, ... PubMed Gerrits MC, Foncke EM, Koelman JH, Tijssen MA. Pediatric writer's cramp in myoclonus-dystonia: maternal imprinting ...

Temporal discrimination in patients with dystonia and tremor and patients with essential tremor.

PubMed

Tinazzi, Michele; Fasano, Alfonso; Di Matteo, Alessandro; Conte, Antonella; Bove, Francesco; Bovi, Tommaso; Peretti, Alessia; Defazio, Giovanni; Fiorio, Mirta; Berardelli, Alfredo

2013-01-01

To investigate whether psychophysical techniques assessing temporal discrimination could help in differentiating patients who have tremor associated with dystonia or essential tremor. We tested somatosensory temporal discrimination thresholds (TDT) and temporal discrimination movement thresholds (TDMT) in 39 patients who had tremor associated with dystonia or essential tremor presenting with upper-limb tremor of comparable severity and compared their findings with those from a group of 25 sex- and age-matched healthy control subjects. TDT was higher in patients who had tremor associated with dystonia than in those with essential tremor and healthy controls (110.6 ± 31.3 vs 63.1 ± 15.2 vs 62.4 ± 9.2; p < 0.001). Conversely, TDMT was higher in patients with essential tremor than in those with tremor associated with dystonia and healthy controls (113.7 ± 14.7 vs 103.4 ± 11.3 vs 100.4 ± 4.2; p < 0.001). Combining the 2 tests in a pattern for essential tremor (abnormal TDMT/normal TDT) and tremor associated with dystonia (normal TDMT/abnormal TDT) yielded a positive predictive value (PPV) of 86.7% and a negative predictive value (NPV) of 70.8% for diagnosing essential tremor and a PPV of 100.0% and NPV of 74.1% for diagnosing tremor associated with dystonia. TDT and TDMT testing should prove a useful tool for differentiating tremor associated with dystonia and essential tremor. Our findings imply that the pathophysiologic mechanisms underlying tremor associated with dystonia differ from those for essential tremor.

Early Illustrations of Geste Antagoniste in Cervical and Generalized Dystonia

PubMed Central

Broussolle, Emmanuel; Laurencin, Chloé; Bernard, Emilien; Thobois, Stéphane; Danaila, Teodor; Krack, Paul

2015-01-01

Background Geste antagoniste, or sensory trick, is a voluntary maneuver that temporarily reduces the severity of dystonic postures or movements. We present a historical review of early reports and illustrations of geste antagoniste. Results In 1894, Brissaud described this phenomenon in Paris in patients with torticollis. He noted that a violent muscular contraction could be reversed by a minor voluntary action. He considered the improvement obtained by what he called “simple mannerisms, childish behaviour or fake pathological movements” was proof of the psychogenic origin of what he named mental torticollis. This concept was supported by photographical illustrations of the patients. The term geste antagoniste was used by Brissaud’s pupils, Meige and Feindel, in their 1902 monograph on movement disorders. Other reports and illustrations of this sign were published in Europe between 1894 and 1906. Although not mentioned explicitly, geste antagoniste was also illustrated in a case report of generalized dystonia in Oppenheim’s 1911 seminal description of dystonia musculorum deformans in Berlin. Discussion Brissaud-Meige’s misinterpretation of the geste antagoniste unfortunately anchored the psychogenic origin of dystonia for decades. In New York, Herz brought dystonia back into the realm of organic neurology in 1944. Thereafter, it was given prominence by other authors, notably Fahn and Marsden in the 1970–1980s. Nowadays, neurologists routinely investigate for geste antagoniste when a dystonic syndrome is suspected, because it provides a further argument in favor of dystonia. The term alleviating maneuver was proposed in 2014 to replace sensory trick or geste antagoniste. This major sign is now part of the motor phenomenology of the 2013 Movement Disorder Society’s classification of dystonia. PMID:26417535

Syndrome of fixed dystonia in adolescents--short term outcome in 4 cases.

PubMed

Majumdar, Anirban; López-Casas, Jesús; Poo, Pilar; Colomer, Jaume; Galvan, Marta; Lingappa, Lokesh; Short, Clare; Jardine, Philip E; Fernández-Alvarez, Emilio

2009-09-01

We describe the clinical features, investigations and outcome of 4 adolescents aged 13, 16, 17 and 19 years, with fixed dystonia. The diagnosis was made within 6 months of the onset of symptoms. One patient had an identifiable traumatic precipitant. All the affected extremities had pain, sudomotor and vascular changes which were consistent with complex regional pain syndrome. The extremities affected by dystonia were the foot and the hand. The dystonia spread to affect other extremities in one patient. One patient had hemifacial spasm. Examination of the central and peripheral nervous system and allied investigations failed to reveal an organic cause. Common genetic causes for dystonia were excluded. The response to physical treatments for the affected extremities, such as Botulinum Toxin and surgery was poor. In all our cases there were significant psychological and psychiatric factors. Three patients fully met the criteria for psychogenic dystonia and responded well to psychological intervention. Fixed dystonia in adolescents is an uncommon disorder of unknown aetiology, usually presenting in girls, which can be very disabling and difficult to treat. The affected parts of the body are usually painful and show vascular changes. The condition is allied to CRPS. Treatment with multidisciplinary approach including psychological measures and physiotherapy is more likely to be successful and may prevent unnecessary physical measures.

DYT1 dystonia increases risk taking in humans.

PubMed

Arkadir, David; Radulescu, Angela; Raymond, Deborah; Lubarr, Naomi; Bressman, Susan B; Mazzoni, Pietro; Niv, Yael

2016-06-01

It has been difficult to link synaptic modification to overt behavioral changes. Rodent models of DYT1 dystonia, a motor disorder caused by a single gene mutation, demonstrate increased long-term potentiation and decreased long-term depression in corticostriatal synapses. Computationally, such asymmetric learning predicts risk taking in probabilistic tasks. Here we demonstrate abnormal risk taking in DYT1 dystonia patients, which is correlated with disease severity, thereby supporting striatal plasticity in shaping choice behavior in humans.

Rating Scales for Dystonia in Cerebral Palsy: Reliability and Validity

ERIC Educational Resources Information Center

Monbaliu, E.; Ortibus, E.; Roelens, F.; Desloovere, K.; Deklerck, J.; Prinzie, P.; De Cock, P.; Feys, H.

2010-01-01

Aim: This study investigated the reliability and validity of the Barry-Albright Dystonia Scale (BADS), the Burke-Fahn-Marsden Movement Scale (BFMMS), and the Unified Dystonia Rating Scale (UDRS) in patients with bilateral dystonic cerebral palsy (CP). Method: Three raters independently scored videotapes of 10 patients (five males, five females;…

Sonographic Alteration of Basal Ganglia in Different Forms of Primary Focal Dystonia: A Cross-sectional Study

PubMed Central

Zhang, Ying; Zhang, Ying-Chun; Sheng, Yu-Jing; Chen, Xiao-Fang; Wang, Cai-Shan; Ma, Qi; Chen, Han-Bing; Yu, Li-Fang; Mao, Cheng-Jie; Xiong, Kang-Ping; Luo, Wei-Feng; Liu, Chun-Feng

2016-01-01

Background: Few studies have addressed whether abnormalities in the lenticular nucleus (LN) are characteristic transcranial sonography (TCS) echo features in patients with primary dystonia. This study aimed to explore alterations in the basal ganglia in different forms of primary focal dystonia. Methods: cross-sectional observational study was performed between December 2013 and December 2014 in 80 patients with different forms of primary focal dystonia and 55 neurologically normal control subjects. TCS was performed in patients and control subjects. Multiple comparisons of multiple rates were used to compare LN hyperechogenicity ratios between control and patient groups. Results: Thirteen individuals were excluded due to poor temporal bone windows, and two subjects were excluded due to disagreement in evaluation by sonologists. Totally, 70 patients (cervical dystonia, n = 30; blepharospasm, n = 30; oromandibular dystonia, n = 10) and 50 normal controls were included in the final analysis. LN hyperechogenicity was observed in 51% (36/70) of patients with primary focal dystonia, compared with 12% (6/50) of controls (P < 0.001). Substantia nigra hyperechogenicity did not differ between the two groups. LN hyperechogenicity was observed in 73% (22/30) of patients with cervical dystonia, a greater prevalence than in patients with blepharospasm (33%, 10/30, P = 0.002) and oromandibular dystonia (40%, 4/10, P = 0.126). LN hyperechogenicity was more frequently observed in patients with cervical dystonia compared with controls (73% vs. 12%, P < 0.001); however, no significant difference was detected in patients with blepharospasm (33% vs. 12%, P = 0.021) or oromandibular dystonia (40% vs. 12%, P = 0.088). Conclusions: LN hyperechogenicity is more frequently observed in patients with primary focal dystonia than in controls. It does not appear to be a characteristic TCS echo feature in patients with blepharospasm or oromandibular dystonia. PMID:27064039

The clinical spectrum of laryngeal dystonia includes dystonic cough: observations of a large series.

PubMed

Payne, Susannah; Tisch, Stephen; Cole, Ian; Brake, Helen; Rough, Judy; Darveniza, Paul

2014-05-01

Laryngeal dystonia is a movement disorder of the muscles within the larynx, which most commonly manifests as spasmodic dysphonia (SD). Rarer reported manifestations include dystonic respiratory stridor and dyscoordinate breathing. Laryngeal dystonia has been treated successfully with botulinum neurotoxin (BTX) injections since 1984. We reviewed prospectively collected data in a consecutive series of 193 patients with laryngeal dystonia who were seen at St. Vincent's Hospital between 1991 and 2011. Patient data were analyzed in Excel, R, and Prism. Laryngeal dystonia manifested as SD (92.7%), stridor (11.9%), dystonic cough (6.2%), dyscoordinate breathing (4.1%), paroxysmal hiccups (1.6%), and paroxysmal sneezing (1.6%). There were more women (68.4%) than men (31.6%), and the average age at onset was 47 years. A positive family history of dystonia was present in 16.1% of patients. A higher incidence of extra-laryngeal dystonia (ie, torticollis and blepharospasm) and concurrent manifestations of laryngeal dystonia were present in patients with dystonic cough, dyscoordinate breathing, paroxysmal sneezing, and hiccups than in other patients (P = 0.003 and P < 0.0001, respectively). The average starting dose of BTX decreased from 2.3 to 0.5 units between 1991 and 2011. The median treatment rating was excellent across all subgroups. Patients with adductor SD, stridor, extra-laryngeal dystonia and male patients had relatively better treatment outcomes. Technical failures were rare (1.1%). Dysphonia secondary to vocal cord paresis followed 38.7% of treatments. Laryngeal dystonia manifests predominantly as SD, but other manifestations include stridor, dyscoordinate breathing, paroxysmal cough, hiccups, and sneezing. BTX injections are very effective across all subgroups. Severe adverse events are rare. © 2014 International Parkinson and Movement Disorder Society.

Pallidal stimulation in children: comparison between cerebral palsy and DYT1 dystonia.

PubMed

Marks, Warren; Bailey, Laurie; Reed, Maryann; Pomykal, Angela; Mercer, Mary; Macomber, David; Acosta, Fernando; Honeycutt, John

2013-07-01

The authors compared the outcomes of 17 children aged 7 to 15 years with DYT1 dystonia or cerebral palsy following deep brain stimulation. While patients with cerebral palsy presented with significantly greater motor disability than the DYT1 cohort at baseline, both groups demonstrated improvement at 1 year (cerebral palsy = 24%; DYT1 = 6%). The group as a whole demonstrated significant improvement on the Barry-Albright Dystonia Scale across time. Gains in motor function were apparent in both axial and appendicular distributions involving both upper and lower extremities. Gains achieved by 6 months were sustained in the cerebral palsy group, whereas the DYT1 group demonstrated continued improvement with ongoing pallidal stimulation beyond 18 months. Young patients with dystonia due to cerebral palsy responded comparably to patients with DYT1 dystonia. The severity of motor impairment in patients with cerebral palsy at baseline and follow-up raises the issue of even earlier intervention with neuromodulation in this population to limit long-term motor impairments due to dystonia.

The Mechanisms of Movement Control and Time Estimation in Cervical Dystonia Patients

PubMed Central

Lungu, Ovidiu V.; Shaw, Daniel J.; Kasparek, Tomas; Bareš, Martin

2013-01-01

Traditionally, the pathophysiology of cervical dystonia has been regarded mainly in relation to neurochemical abnormities in the basal ganglia. Recently, however, substantial evidence has emerged for cerebellar involvement. While the absence of neurological “cerebellar signs” in most dystonia patients may be considered at least provoking, there are more subtle indications of cerebellar dysfunction in complex, demanding tasks. Specifically, given the role of the cerebellum in the neural representation of time, in the millisecond range, dysfunction to this structure is considered to be of greater importance than dysfunction of the basal ganglia. In the current study, we investigated the performance of cervical dystonia patients on a computer task known to engage the cerebellum, namely, the interception of a moving target with changing parameters (speed, acceleration, and angle) with a simple response (pushing a button). The cervical dystonia patients achieved significantly worse results than a sample of healthy controls. Our results suggest that the cervical dystonia patients are impaired at integrating incoming visual information with motor responses during the prediction of upcoming actions, an impairment we interpret as evidence of cerebellar dysfunction. PMID:24198973

A role for cerebellum in the hereditary dystonia DYT1

PubMed Central

Fremont, Rachel; Tewari, Ambika; Angueyra, Chantal; Khodakhah, Kamran

2017-01-01

DYT1 is a debilitating movement disorder caused by loss-of-function mutations in torsinA. How these mutations cause dystonia remains unknown. Mouse models which have embryonically targeted torsinA have failed to recapitulate the dystonia seen in patients, possibly due to differential developmental compensation between rodents and humans. To address this issue, torsinA was acutely knocked down in select brain regions of adult mice using shRNAs. TorsinA knockdown in the cerebellum, but not in the basal ganglia, was sufficient to induce dystonia. In agreement with a potential developmental compensation for loss of torsinA in rodents, torsinA knockdown in the immature cerebellum failed to produce dystonia. Abnormal motor symptoms in knockdown animals were associated with irregular cerebellar output caused by changes in the intrinsic activity of both Purkinje cells and neurons of the deep cerebellar nuclei. These data identify the cerebellum as the main site of dysfunction in DYT1, and offer new therapeutic targets. DOI: http://dx.doi.org/10.7554/eLife.22775.001 PMID:28198698

Familial Paroxysmal Exercise-Induced Dystonia: Atypical Presentation of Autosomal Dominant GTP-Cyclohydrolase 1 Deficiency

ERIC Educational Resources Information Center

Dale, Russell C.; Melchers, Anna; Fung, Victor S. C.; Grattan-Smith, Padraic; Houlden, Henry; Earl, John

2010-01-01

Paroxysmal exercise-induced dystonia (PED) is one of the rarer forms of paroxysmal dyskinesia, and can occur in sporadic or familial forms. We report a family (male index case, mother and maternal grandfather) with autosomal dominant inheritance of paroxysmal exercise-induced dystonia. The dystonia began in childhood and was only ever induced…

[Penile torsion. Case report].

PubMed

Arch Canas, Albert; Gutiérfz del Pozo, Rafael

2006-01-01

To report the clinical characteristics and therapeutic options of penile torsion. We report the case of a male with asymptomatic penile torsion as an incidental finding after consultation for other reasons. The patient was treated conservatively because it was not an important aesthetic trouble and it was asymptomatic. Penile torsion is rare. Surgical treatment is reserved for very important degrees of torsion, symptomatic patients or, when patient feels discomfort with the aesthetic alteration.

Mood and energy determinants of quality of life in dystonia.

PubMed

Soeder, Anne; Kluger, Benzi M; Okun, Michael S; Garvan, Cynthia W; Soeder, Thomas; Jacobson, Charles E; Rodriguez, Ramon L; Turner, Rick; Fernandez, Hubert H

2009-06-01

Prior research has demonstrated that dystonia patients may have reductions in numerous measures of quality of life (QOL) when compared to healthy age-matched controls. However, the determinants of QOL in this patient population have not been fully specified. To address this issue, we administered the Medical Outcomes Study Short Form 36 (SF-36) questionnaire along with the Visual Analogue Mood Scale (VAMS), the Beck Depression Inventory (BDI), the Unified Dystonia Rating Scale (UDRS), and the State and Trait Anxiety Index (STAI) to 73 patients diagnosed with primary dystonia. Dystonia patients demonstrated lower QOL on all subscales of the SF-36 compared to normative healthy age-matched data. While the UDRS, a predominantly motor scale, was not significantly correlated with QOL (r = -0.19, P = 0.11), the BDI (r = -0.79, P < 0.0001), the STAI (r = -0.63, P < 0.0001) and multiple subscales of the VAMS revealed significant correlations. The tired subscale was the item most strongly correlated with overall QOL (r = -0.52, P < 0.0001), and particularly QOL related to physical function. The association of tiredness with QOL remained significant even when adjusting for the BDI and STAI scores (P < 0.0001). This study highlights the importance of mood and energy in QOL among a cohort of patients with dystonia. Further studies will be needed to determine the effect of treatment on these associations and whether disturbances in energy are related to sleep disturbances or to primary fatigue issues.

Creation of a Mouse with Stress-Induced Dystonia: Control of an ATPase Chaperone

DTIC Science & Technology

2013-04-01

was successful, and a mouse with the desired dystonic symptoms was obtained. It has two mutations , one a dominantly inherited gene with 100...the hallmark of dystonia. 15. SUBJECT TERMS Dystonia, genetically modified mice, stress, gene mutations , animal model of disease. 16...there are a variety of hypotheses that should be testable if there were a realistic animal model. Mice with mutations in genes known to cause dystonia

What’s special about task in dystonia? A voxel-based morphometry and diffusion weighted imaging study

PubMed Central

Ramdhani, Ritesh A.; Kumar, Veena; Velickovic, Miodrag; Frucht, Steven J.; Tagliati, Michele; Simonyan, Kristina

2014-01-01

Background Numerous brain imaging studies have demonstrated structural changes in the basal ganglia, thalamus, sensorimotor cortex and cerebellum across different forms of primary dystonia. However, our understanding of brain abnormalities contributing to the clinically well-described phenomenon of task-specificity in dystonia remained limited. Methods We used high-resolution MRI with voxel-based morphometry and diffusion tensor imaging with tract-based spatial statistics of fractional anisotropy to examine gray and white matter organization in two task-specific dystonia forms, writer’s cramp and laryngeal dystonia, and two non-task-specific dystonia forms, cervical dystonia and blepharospasm. Results A direct comparison between the both dystonia forms revealed that characteristic gray matter volumetric changes in task-specific dystonia involve the brain regions responsible for sensorimotor control during writing and speaking, such as primary somatosensory cortex, middle frontal gyrus, superior/inferior temporal gyrus, middle/posterior cingulate cortex, occipital cortex as well as the striatum and cerebellum (lobules VI-VIIa). These gray matter changes were accompanied by white matter abnormalities in the premotor cortex, middle/inferior frontal gyrus, genu of the corpus callosum, anterior limb/genu of the internal capsule, and putamen. Conversely, gray matter volumetric changes in non-task-specific group were limited to the left cerebellum (lobule VIIa) only, while white matter alterations were found to underlie the primary sensorimotor cortex, inferior parietal lobule and middle cingulate gyrus. Conclusion Distinct microstructural patterns in task-specific and non-task-specific dystonias may represent neuroimaging markers and provide evidence that these two dystonia subclasses likely follow divergent pathophysiological mechanisms precipitated by different triggers. PMID:24925463

A unifying motor control framework for task-specific dystonia

PubMed Central

Rothwell, John C.; Edwards, Mark J.

2018-01-01

Task-specific dystonia is a movement disorder characterized by the development of a painless loss of dexterity specific to a particular motor skill. This disorder is prevalent among writers, musicians, dancers and athletes. No current treatment is predictably effective and the disorder generally ends the careers of affected individuals. There are a number of limitations with traditional dystonic disease models for task-specific dystonia. We therefore review emerging evidence that the disorder has its origins within normal compensatory mechanisms of a healthy motor system in which the representation and reproduction of motor skill is disrupted. We describe how risk factors for task-specific dystonia can be stratified and translated into mechanisms of dysfunctional motor control. The proposed model aims to define new directions for experimental research and stimulate therapeutic advances for this highly disabling disorder. PMID:29104291

Ataxia telangiectasia presenting as dopa-responsive cervical dystonia

PubMed Central

Mohire, Mahavir D.; Schneider, Susanne A.; Stamelou, Maria; Wood, Nicholas W.; Bhatia, Kailash P.

2013-01-01

Objective: To identify the cause of cervical dopa-responsive dystonia (DRD) in a Muslim Indian family inherited in an apparently autosomal recessive fashion, as previously described in this journal. Methods: Previous testing for mutations in the genes known to cause DRD (GCH1, TH, and SPR) had been negative. Whole exome sequencing was performed on all 3 affected individuals for whom DNA was available to identify potentially pathogenic shared variants. Genotyping data obtained for all 3 affected individuals using the OmniExpress single nucleotide polymorphism chip (Illumina, San Diego, CA) were used to perform linkage analysis, autozygosity mapping, and copy number variation analysis. Sanger sequencing was used to confirm all variants. Results: After filtering of the variants, exome sequencing revealed 2 genes harboring potentially pathogenic compound heterozygous variants (ATM and LRRC16A). Of these, the variants in ATM segregated perfectly with the cervical DRD. Both mutations detected in ATM have been shown to be pathogenic, and α-fetoprotein, a marker of ataxia telangiectasia, was increased in all affected individuals. Conclusion: Biallelic mutations in ATM can cause DRD, and mutations in this gene should be considered in the differential diagnosis of unexplained DRD, particularly if the dystonia is cervical and if there is a recessive family history. ATM has previously been reported to cause isolated cervical dystonia, but never, to our knowledge, DRD. Individuals with dystonia related to ataxia telangiectasia may benefit from a trial of levodopa. PMID:23946315

Update on the Use of Botulinum Toxin Therapy for Focal and Task-Specific Dystonias.

PubMed

Lungu, Codrin; Ahmad, Omar F

2016-02-01

Focal dystonia is defined by anatomical distribution and represents a distinct entity from generalized dystonia. Task-specific dystonia occurs in the context of specific patterns of movement. Botulinum neurotoxin (BoNT) injections are the treatment of choice in most cases. Several formulations are available; the approved indications, dosing, and some administration details, differ between them. The major forms of focal and task-specific dystonia are reviewed, along with the evidence for BoNT therapy, the expected benefit and side effects, and practical points guiding the injections. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

DYT1 dystonia increases risk taking in humans

PubMed Central

Arkadir, David; Radulescu, Angela; Raymond, Deborah; Lubarr, Naomi; Bressman, Susan B; Mazzoni, Pietro; Niv, Yael

2016-01-01

It has been difficult to link synaptic modification to overt behavioral changes. Rodent models of DYT1 dystonia, a motor disorder caused by a single gene mutation, demonstrate increased long-term potentiation and decreased long-term depression in corticostriatal synapses. Computationally, such asymmetric learning predicts risk taking in probabilistic tasks. Here we demonstrate abnormal risk taking in DYT1 dystonia patients, which is correlated with disease severity, thereby supporting striatal plasticity in shaping choice behavior in humans. DOI: http://dx.doi.org/10.7554/eLife.14155.001 PMID:27249418

Clinical and genetic features of cervical dystonia in a large multicenter cohort

PubMed Central

Vemula, Satya R.; Xiao, Jianfeng; Thompson, Misty M.; Perlmutter, Joel S.; Wright, Laura J.; Jinnah, H.A.; Rosen, Ami R.; Hedera, Peter; Comella, Cynthia L.; Weissbach, Anne; Junker, Johanna; Jankovic, Joseph; Barbano, Richard L.; Reich, Stephen G.; Rodriguez, Ramon L.; Berman, Brian D.; Chouinard, Sylvain; Severt, Lawrence; Agarwal, Pinky; Stover, Natividad P.

2016-01-01

Objective: To characterize the clinical and genetic features of cervical dystonia (CD). Methods: Participants enrolled in the Dystonia Coalition biorepository (NCT01373424) with initial manifestation as CD were included in this study (n = 1,000). Data intake included demographics, family history, and the Global Dystonia Rating Scale. Participants were screened for sequence variants (SVs) in GNAL, THAP1, and Exon 5 of TOR1A. Results: The majority of participants were Caucasian (95%) and female (75%). The mean age at onset and disease duration were 45.5 ± 13.6 and 14.6 ± 11.8 years, respectively. At the time of assessment, 68.5% had involvement limited to the neck, shoulder(s), and proximal arm(s), whereas 47.4% had dystonia limited to the neck. The remaining 31.5% of the individuals exhibited more extensive anatomical spread. A head tremor was noted in 62% of the patients. Head tremor and laryngeal dystonia were more common in females. Psychiatric comorbidities, mainly depression and anxiety, were reported by 32% of the participants and were more common in females. Family histories of dystonia, parkinsonian disorder, and tremor were present in 14%, 11%, and 29% of the patients, respectively. Pathogenic or likely pathogenic SVs in THAP1, TOR1A, and GNAL were identified in 8 participants (0.8%). Two individuals harbored novel missense SVs in Exon 5 of TOR1A. Synonymous and noncoding SVs in THAP1 and GNAL were identified in 4% of the cohort. Conclusions: Head tremor, laryngeal dystonia, and psychiatric comorbidities are more common in female participants with CD. Coding and noncoding variants in GNAL, THAP1, and TOR1A make small contributions to the pathogenesis of CD. PMID:27123488

Botulinum Toxin Injections Reduce Associative Plasticity in Patients with Primary Dystonia

PubMed Central

Kojovic, Maja; Caronni, Antonio; Bologna, Matteo; Rothwell, John C.; Bhatia, Kailash P.; Edwards, Mark J.

2014-01-01

Botulinum toxin injections ameliorate dystonic symptoms by blocking the neuromuscular junction and weakening dystonic contractions. We asked if botulinum toxin injections in dystonia patients might also affect the integrity of sensorimotor cortical plasticity, one of the key pathophysiological features of dystonia. We applied a paired associative stimulation protocol, known to induce long-term potentiation–like changes in the primary motor cortex hand area to 12 patients with cervical dystonia before and 1 and 3 months after botulinum toxin injections to the neck muscles. Primary motor cortex excitability was probed by measuring transcranial magnetic stimulation-evoked motor evoked potentials before and after paired associative stimulation. We also measured the input–output curve, short-interval intracortical inhibition, intracortical facilitation, short afferent inhibition, and long afferent inhibition in hand muscles and the clinical severity of dystonia. Before botulinum toxin injections, paired associative stimulation significantly facilitated motor evoked potentials in hand muscles. One month after injections, this effect was abolished, with partial recovery after 3 months. There were significant positive correlations between the facilitation produced by paired associative stimulation and (1) the time elapsed since botulinum toxin injections and (2) the clinical dystonia score. One effect of botulinum toxin injection treatment is to modulate afferent input from the neck. We propose that subsequent reorganization of the motor cortex representation of hand muscles may explain the effect of botulinum toxin on motor cortical plasticity. PMID:21469207

Ondansetron-induced dystonia, hypoglycemia, and seizures in a child.

PubMed

Patel, Aneet; Mittal, Shweta; Manchanda, Samiksha; Puliyel, Jacob Mammen

2011-01-01

To document ondansetron-induced dystonia, hypoglycemia, and seizures in a child. A 4-year-old boy was admitted with dystonia following an intravenous dose of ondansetron 2 mg (0.13 mg/kg) that he had received for vomiting that day. In the emergency department, he developed generalized tonicclonic seizures lasting for a few minutes. He was administered lorazepam 1.5 mg (0.1 mg/kg) to control the seizures. His blood glucose level was 10 mg/dL; the hypoglycemia responded promptly to intravenous dextrose 10% (7 mL/kg). Serum electrolytes, renal profile, capillary blood gas, and results of a computed tomography scan of the brain were normal. Subsequent blood glucose values were within normal range. On follow-up after 7 days, the child was healthy with no recurrences of the symptoms. A provisional diagnosis of ondansetron-induced acute dystonia with seizures and hypoglycemia was made. Ondansetron is an antiemetic known for its safety profile. There have been a few case reports of extrapyramidal adverse effects and seizures from this drug but none of ondansetron-associated hypoglycemia. 5-Hydroxytryptamine (5-HT(3)) receptors are involved in arginine vasopressin-mediated release of adrenocorticotropin hormone and cortisol in response to stress. Blunting of this stress response by ondansetron, a 5-HT(3) receptor antagonist, could have caused the hypoglycemia in this patient. According to the Naranjo scale, ondansetron was probably the cause of the dystonia and seizures, and possibly the cause of the hypoglycemia. Other potential explanations for hypoglycemia were considered but were thought to be less likely. Dystonia and seizures have been associated with ondansetron in a few case reports. In addition, clinicians need to consider hypoglycemia as a possible adverse effect of ondansetron.

Current Opinions and Areas of Consensus on the Role of the Cerebellum in Dystonia

PubMed Central

Batla, Amit; Bhatia, Kailash; Dauer, William T; Dresel, Christian; Niethammer, Martin; Eidelberg, David; Raike, Robert S.; Smith, Yoland; Jinnah, H. A.; Hess, Ellen J.; Meunier, Sabine; Hallett, Mark; Fremont, Rachel; Khodakhah, Kamran; LeDoux, Mark S.; Popa, Traian; Gallea, Cécile; Lehericy, Stéphane; Bostan, Andreea C.; Strick, Peter L.

2016-01-01

A role for the cerebellum in causing ataxia, a disorder characterized by uncoordinated movement, is widely accepted. Recent work has suggested that alterations in activity, connectivity, and structure of the cerebellum are also associated with dystonia, a neurological disorder characterized by abnormal and sustained muscle contractions often leading to abnormal maintained postures. In this manuscript, the authors discuss their views on how the cerebellum may play a role in dystonia. The following topics are discussed: The relationships between neuronal/network dysfunctions and motor abnormalities in rodent models of dystonia.Data about brain structure, cerebellar metabolism, cerebellar connections, and noninvasive cerebellar stimulation that support (or not) a role for the cerebellum in human dystonia.Connections between the cerebellum and motor cortical and sub-cortical structures that could support a role for the cerebellum in dystonia. Overall points of consensus include: Neuronal dysfunction originating in the cerebellum can drive dystonic movements in rodent model systems.Imaging and neurophysiological studies in humans suggest that the cerebellum plays a role in the pathophysiology of dystonia, but do not provide conclusive evidence that the cerebellum is the primary or sole neuroanatomical site of origin. PMID:27734238

Current Opinions and Areas of Consensus on the Role of the Cerebellum in Dystonia.

PubMed

Shakkottai, Vikram G; Batla, Amit; Bhatia, Kailash; Dauer, William T; Dresel, Christian; Niethammer, Martin; Eidelberg, David; Raike, Robert S; Smith, Yoland; Jinnah, H A; Hess, Ellen J; Meunier, Sabine; Hallett, Mark; Fremont, Rachel; Khodakhah, Kamran; LeDoux, Mark S; Popa, Traian; Gallea, Cécile; Lehericy, Stéphane; Bostan, Andreea C; Strick, Peter L

2017-04-01

A role for the cerebellum in causing ataxia, a disorder characterized by uncoordinated movement, is widely accepted. Recent work has suggested that alterations in activity, connectivity, and structure of the cerebellum are also associated with dystonia, a neurological disorder characterized by abnormal and sustained muscle contractions often leading to abnormal maintained postures. In this manuscript, the authors discuss their views on how the cerebellum may play a role in dystonia. The following topics are discussed: The relationships between neuronal/network dysfunctions and motor abnormalities in rodent models of dystonia. Data about brain structure, cerebellar metabolism, cerebellar connections, and noninvasive cerebellar stimulation that support (or not) a role for the cerebellum in human dystonia. Connections between the cerebellum and motor cortical and sub-cortical structures that could support a role for the cerebellum in dystonia. Overall points of consensus include: Neuronal dysfunction originating in the cerebellum can drive dystonic movements in rodent model systems. Imaging and neurophysiological studies in humans suggest that the cerebellum plays a role in the pathophysiology of dystonia, but do not provide conclusive evidence that the cerebellum is the primary or sole neuroanatomical site of origin.

Linkage analysis with chromosome 9 markers in hereditary essential tremor.

PubMed

Conway, D; Bain, P G; Warner, T T; Davis, M B; Findley, L J; Thompson, P D; Marsden, C D; Harding, A E

1993-07-01

Hereditary essential tremor (ET) is an autosomal dominant disorder with variable expression and reduced penetrance. A tremor indistinguishable from ET may be observed in patients with autosomal dominant idiopathic torsion dystonia (ITD), in which the disease locus has been mapped to 9q32-34 in some kindreds, tightly linked to the argininosuccinate synthetase (ASS) locus. We performed linkage analysis in 15 families with ET containing 60 definitely affected individuals, using dinucleotide repeat polymorphisms at the ASS locus and the Abelson locus (ABL). Cumulative lod scores were -19.5 for ASS and -10.8 for ABL at a recombination fraction of 0.01, and tight linkage to ASS was excluded individually in 11 of the families. These data indicate that the ET gene is not allelic to that causing ITD.

Constraining torsion with Gravity Probe B

DOE Office of Scientific and Technical Information (OSTI.GOV)

Mao Yi; Guth, Alan H.; Cabi, Serkan

2007-11-15

It is well-entrenched folklore that all torsion gravity theories predict observationally negligible torsion in the solar system, since torsion (if it exists) couples only to the intrinsic spin of elementary particles, not to rotational angular momentum. We argue that this assumption has a logical loophole which can and should be tested experimentally, and consider nonstandard torsion theories in which torsion can be generated by macroscopic rotating objects. In the spirit of action=reaction, if a rotating mass like a planet can generate torsion, then a gyroscope would be expected to feel torsion. An experiment with a gyroscope (without nuclear spin) suchmore » as Gravity Probe B (GPB) can test theories where this is the case. Using symmetry arguments, we show that to lowest order, any torsion field around a uniformly rotating spherical mass is determined by seven dimensionless parameters. These parameters effectively generalize the parametrized post-Newtonian formalism and provide a concrete framework for further testing Einstein's general theory of relativity (GR). We construct a parametrized Lagrangian that includes both standard torsion-free GR and Hayashi-Shirafuji maximal torsion gravity as special cases. We demonstrate that classic solar system tests rule out the latter and constrain two observable parameters. We show that Gravity Probe B is an ideal experiment for further constraining nonstandard torsion theories, and work out the most general torsion-induced precession of its gyroscope in terms of our torsion parameters.« less

Functional Characterization of Rare RAB12 Variants and Their Role in Musician's and Other Dystonias.

PubMed

Hebert, Eva; Borngräber, Friederike; Schmidt, Alexander; Rakovic, Aleksandar; Brænne, Ingrid; Weissbach, Anne; Hampf, Jennie; Vollstedt, Eva-Juliane; Größer, Leopold; Schaake, Susen; Müller, Michaela; Manzoor, Humera; Jabusch, Hans-Christian; Alvarez-Fischer, Daniel; Kasten, Meike; Kostic, Vladimir S; Gasser, Thomas; Zeuner, Kirsten E; Kim, Han-Joon; Jeon, Beomseok; Bauer, Peter; Altenmüller, Eckart; Klein, Christine; Lohmann, Katja

2017-10-18

Mutations in RAB (member of the Ras superfamily) genes are increasingly recognized as cause of a variety of disorders including neurological conditions. While musician's dystonia (MD) and writer's dystonia (WD) are task-specific movement disorders, other dystonias persistently affect postures as in cervical dystonia. Little is known about the underlying etiology. Next-generation sequencing revealed a rare missense variant (c.586A>G; p.Ile196Val) in RAB12 in two of three MD/WD families. Next, we tested 916 additional dystonia patients; 512 Parkinson's disease patients; and 461 healthy controls for RAB12 variants and identified 10 additional carriers of rare missense changes among dystonia patients (1.1%) but only one carrier in non-dystonic individuals (0.1%; p = 0.005). The detected variants among index patients comprised p.Ile196Val ( n = 6); p.Ala174Thr ( n = 3); p.Gly13Asp; p.Ala148Thr; and p.Arg181Gln in patients with MD; cervical dystonia; or WD. Two relatives of MD patients with WD also carried p.Ile196Val. The two variants identified in MD patients (p.Ile196Val; p.Gly13Asp) were characterized on endogenous levels in patient-derived fibroblasts and in two RAB12-overexpressing cell models. The ability to hydrolyze guanosine triphosphate (GTP), so called GTPase activity, was increased in mutants compared to wildtype. Furthermore, subcellular distribution of RAB12 in mutants was altered in fibroblasts. Soluble Transferrin receptor 1 levels were reduced in the blood of all three tested p.Ile196Val carriers. In conclusion, we demonstrate an enrichment of missense changes among dystonia patients. Functional characterization revealed altered enzyme activity and lysosomal distribution in mutants suggesting a contribution of RAB12 variants to MD and other dystonias.

Functional Analysis of Dopaminergic Systems in a DYT1 Knock-in Mouse Model of Dystonia

PubMed Central

Song, Chang-Hyun; Fan, Xueliang; Exeter, Cicely J.; Hess, Ellen J.; Jinnah, H. A.

2012-01-01

The dystonias are a group of disorders characterized by involuntary twisting movements and abnormal posturing. The most common of the inherited dystonias is DYT1 dystonia, which is due to deletion of a single GAG codon (ΔE) in the TOR1A gene that encodes torsinA. Since some forms of dystonia have been linked with dysfunction of brain dopamine pathways, the integrity of these pathways was explored in a knock-in mouse model of DYT1 dystonia. In DYT1(ΔE) knock-in mice, neurochemical measures revealed only small changes in the content of dopamine or its metabolites in tissue homogenates from caudoputamen or midbrain, but microdialysis studies revealed robust decreases in baseline and amphetamine-stimulated extracellular dopamine in the caudoputamen. Quantitative stereological methods revealed no evidence for striatal or midbrain atrophy, but substantia nigra neurons immunopositive for tyrosine hydroxylase were slightly reduced in numbers and enlarged in size. Behavioral studies revealed subtle abnormalities in gross motor activity and motor coordination without overt dystonia. Neuropharmacological challenges of dopamine systems revealed normal behavioral responses to amphetamine and a minor increase in sensitivity to haloperidol. These results demonstrate that this DYT1(ΔE) knock-in mouse model of dystonia harbors neurochemical and structural changes of the dopamine pathways, as well as motor abnormalities. PMID:22659308

Characteristics of bilateral hand function in individuals with unilateral dystonia due to perinatal stroke: sensory and motor aspects.

PubMed

de Campos, Ana Carolina; Kukke, Sahana N; Hallett, Mark; Alter, Katharine E; Damiano, Diane L

2014-05-01

The authors assessed bilateral motor and sensory function in individuals with upper limb dystonia due to unilateral perinatal stroke and explored interrelationships of motor function and sensory ability. Reach kinematics and tactile sensation were measured in 7 participants with dystonia and 9 healthy volunteers. The dystonia group had poorer motor (hold time, reach time, shoulder/elbow correlation) and sensory (spatial discrimination, stereognosis) outcomes than the control group on the nondominant side. On the dominant side, only sensation (spatial discrimination, stereognosis) was poorer in the dystonia group compared with the control group. In the dystonia group, although sensory and motor outcomes were uncorrelated, dystonia severity was related to poorer stereognosis, longer hold and reach times, and decreased shoulder/elbow coordination. Findings of bilateral sensory deficits in dystonia can be explained by neural reorganization. Visual compensation for somatosensory changes in the nonstroke hemisphere may explain the lack of bilateral impairments in reaching.

Newton-Cartan gravity and torsion

NASA Astrophysics Data System (ADS)

Bergshoeff, Eric; Chatzistavrakidis, Athanasios; Romano, Luca; Rosseel, Jan

2017-10-01

We compare the gauging of the Bargmann algebra, for the case of arbitrary torsion, with the result that one obtains from a null-reduction of General Relativity. Whereas the two procedures lead to the same result for Newton-Cartan geometry with arbitrary torsion, the null-reduction of the Einstein equations necessarily leads to Newton-Cartan gravity with zero torsion. We show, for three space-time dimensions, how Newton-Cartan gravity with arbitrary torsion can be obtained by starting from a Schrödinger field theory with dynamical exponent z = 2 for a complex compensating scalar and next coupling this field theory to a z = 2 Schrödinger geometry with arbitrary torsion. The latter theory can be obtained from either a gauging of the Schrödinger algebra, for arbitrary torsion, or from a null-reduction of conformal gravity.

The non-motor syndrome of primary dystonia: clinical and pathophysiological implications

PubMed Central

Stamelou, Maria; Edwards, Mark J.; Hallett, Mark

2012-01-01

Dystonia is typically considered a movement disorder characterized by motor manifestations, primarily involuntary muscle contractions causing twisting movements and abnormal postures. However, growing evidence indicates an important non-motor component to primary dystonia, including abnormalities in sensory and perceptual functions, as well as neuropsychiatric, cognitive and sleep domains. Here, we review this evidence and discuss its clinical and pathophysiological implications. PMID:21933808

Characteristics of bilateral hand function in individuals with unilateral dystonia due to perinatal stroke: sensory and motor aspects

PubMed Central

de Campos, Ana Carolina; Kukke, Sahana N.; Hallett, Mark; Alter, Katharine E.; Damiano, Diane L.

2014-01-01

We assessed bilateral motor and sensory function in individuals with upper limb dystonia due to unilateral perinatal stroke and explored interrelationships of motor function and sensory ability. Reach kinematics and tactile sensation were measured in seven participants with dystonia and nine healthy volunteers. The dystonia group had poorer motor (hold time, reach time, shoulder/elbow correlation) and sensory (spatial discrimination, stereognosis) outcomes than the control group on the non-dominant side. On the dominant side, only sensation (spatial discrimination, stereognosis) was poorer in the dystonia group compared to the control group. In the dystonia group, although sensory and motor outcomes were uncorrelated, dystonia severity was related to poorer stereognosis, longer hold and reach times, and decreased shoulder/elbow coordination. Findings of bilateral sensory deficits in dystonia may be explained by neural reorganization. Visual compensation for somatosensory changes in the non-stroke hemisphere may explain the lack of bilateral impairments in reaching. PMID:24396131

Lessons from a remarkable family with dopa-responsive dystonia.

PubMed Central

Harwood, G; Hierons, R; Fletcher, N A; Marsden, C D

1994-01-01

A family is described in which dopa-responsive dystonia affected six members and segregated in an autosomal dominant fashion. Patients either presented in childhood with dystonia of the legs, going to develop parkinsonism and pseudo-pyramidal deficits, or in adult life with parkinsonian tremor and rigidity, with pseudo-pyramidal signs. Remarkably, in the three cases with childhood onset the symptoms and signs of the condition were abolished 36 to 52 years later by small doses of levodopa. No long term side effects of levodopa have appeared after 15 years of treatment. PMID:8163996

Normalization of sensorimotor integration by repetitive transcranial magnetic stimulation in cervical dystonia.

PubMed

Zittel, S; Helmich, R C; Demiralay, C; Münchau, A; Bäumer, T

2015-08-01

Previous studies indicated that sensorimotor integration and plasticity of the sensorimotor system are impaired in dystonia patients. We investigated motor evoked potential amplitudes and short latency afferent inhibition to examine corticospinal excitability and cortical sensorimotor integration, before and after inhibitory 1 Hz repetitive transcranial magnetic stimulation over primary sensory and primary motor cortex in patients with cervical dystonia (n = 12). Motor evoked potentials were recorded from the right first dorsal interosseous muscle after application of unconditioned transcranial magnetic test stimuli and after previous conditioning electrical stimulation of the right index finger at short interstimulus intervals of 25, 30 and 40 ms. Results were compared to a group of healthy age-matched controls. At baseline, motor evoked potential amplitudes did not differ between groups. Short latency afferent inhibition was reduced in cervical dystonia patients compared to healthy controls. Inhibitory 1 Hz sensory cortex repetitive transcranial magnetic stimulation but not motor cortex repetitive transcranial magnetic stimulation increased motor evoked potential amplitudes in cervical dystonia patients. Additionally, both 1 Hz repetitive transcranial magnetic stimulation over primary sensory and primary motor cortex normalized short latency afferent inhibition in these patients. In healthy subjects, sensory repetitive transcranial magnetic stimulation had no influence on motor evoked potential amplitudes and short latency afferent inhibition. Plasticity of sensorimotor circuits is altered in cervical dystonia patients.

Muscle synergies in children with dystonia capture "healthy" patterns regardless the altered motor performance.

PubMed

Lunardini, Francesca; Casellato, Claudia; Bertucco, Matteo; Sanger, Terence D; Pedrocchi, Alessandra

2015-01-01

Muscle synergies are hypothesized to represent motor modules recruited by the nervous system to flexibly perform subtasks necessary to achieve movement. Muscle synergy analysis may offer a better view of the neural structure underlying motor behaviors and how they change in motor deficits and rehabilitation. The aim of this study is to investigate if muscle synergies are able to encode regularities in the musculoskeletal system organization and dynamic behavior of patients with dystonia, or if they are altered as a consequence of the nervous system dysfunction in dystonia. To do so, we applied muscle synergies analysis to muscle activity recorded during the execution of upper limb writing tasks in 10 children with dystonia and 9 age-matched healthy controls. We show that, although children with dystonia present movement abnormalities compared to control subjects, the muscle synergies extracted from the two groups are very similar, and that the two groups share a significant number of motor modules. Our finding therefore suggests that a regular modular organization of upper limb muscle coordination is preserved for childhood dystonia.

Functional Characterization of Rare RAB12 Variants and Their Role in Musician’s and Other Dystonias

PubMed Central

Hebert, Eva; Borngräber, Friederike; Schmidt, Alexander; Rakovic, Aleksandar; Brænne, Ingrid; Weissbach, Anne; Hampf, Jennie; Vollstedt, Eva-Juliane; Größer, Leopold; Schaake, Susen; Müller, Michaela; Manzoor, Humera; Jabusch, Hans-Christian; Alvarez-Fischer, Daniel; Kasten, Meike; Kostic, Vladimir S.; Gasser, Thomas; Zeuner, Kirsten E.; Kim, Han-Joon; Jeon, Beomseok; Bauer, Peter; Altenmüller, Eckart; Klein, Christine; Lohmann, Katja

2017-01-01

Mutations in RAB (member of the Ras superfamily) genes are increasingly recognized as cause of a variety of disorders including neurological conditions. While musician’s dystonia (MD) and writer’s dystonia (WD) are task-specific movement disorders, other dystonias persistently affect postures as in cervical dystonia. Little is known about the underlying etiology. Next-generation sequencing revealed a rare missense variant (c.586A>G; p.Ile196Val) in RAB12 in two of three MD/WD families. Next, we tested 916 additional dystonia patients; 512 Parkinson’s disease patients; and 461 healthy controls for RAB12 variants and identified 10 additional carriers of rare missense changes among dystonia patients (1.1%) but only one carrier in non-dystonic individuals (0.1%; p = 0.005). The detected variants among index patients comprised p.Ile196Val (n = 6); p.Ala174Thr (n = 3); p.Gly13Asp; p.Ala148Thr; and p.Arg181Gln in patients with MD; cervical dystonia; or WD. Two relatives of MD patients with WD also carried p.Ile196Val. The two variants identified in MD patients (p.Ile196Val; p.Gly13Asp) were characterized on endogenous levels in patient-derived fibroblasts and in two RAB12-overexpressing cell models. The ability to hydrolyze guanosine triphosphate (GTP), so called GTPase activity, was increased in mutants compared to wildtype. Furthermore, subcellular distribution of RAB12 in mutants was altered in fibroblasts. Soluble Transferrin receptor 1 levels were reduced in the blood of all three tested p.Ile196Val carriers. In conclusion, we demonstrate an enrichment of missense changes among dystonia patients. Functional characterization revealed altered enzyme activity and lysosomal distribution in mutants suggesting a contribution of RAB12 variants to MD and other dystonias. PMID:29057844

Developing Gene Silencing for the Study and Treatment of Dystonia

DTIC Science & Technology

2017-12-01

1 AWARD NUMBER: W81XWH-14-1-0282 TITLE: Developing Gene Silencing for the Study and Treatment of Dystonia PRINCIPAL INVESTIGATOR: Pedro...30/2014-9/29/2017 4. TITLE AND SUBTITLE Developing Gene Silencing for the Study and Treatment of Dystonia 5a. CONTRACT NUMBER 5b. GRANT NUMBER 5c...function. More importantly, we will check if no side effects or toxicity occurs. Successful completion of our studies will move us a step closer to

Shock Waves in the Treatment of Muscle Hypertonia and Dystonia

PubMed Central

Mori, Laura; Currà, Antonio; Molfetta, Luigi; Abbruzzese, Giovanni

2014-01-01

Since 1997, focused shock waves therapy (FSWT) has been reported to be useful in the treatment of muscle hypertonia and dystonia. More recently, also radial shock wave therapy (RSWT) has been successfully used to treat muscle hypertonia. The studies where FSWT and RSWT have been used to treat muscle hypertonia and dystonia are reviewed in this paper. The more consistent and long lasting results were obtained in the lower limb muscles of patients affected by cerebral palsy with both FSWT and RSWT and in the distal upper limb muscles of adult stroke patients using FSWT. The most probable mechanism of action is a direct effect of shock waves on muscle fibrosis and other nonreflex components of muscle hypertonia. However, we believe that up to now the biological effects of shock waves on muscle hypertonia and dystonia cannot be clearly separated from a placebo effect. PMID:25309915

Activity and topographic changes in the somatosensory system in embouchure dystonia.

PubMed

Mantel, Tobias; Dresel, Christian; Altenmüller, Eckart; Zimmer, Claus; Noe, Jonas; Haslinger, Bernhard

2016-11-01

Embouchure dystonia is a highly disabling focal task-specific dystonia affecting professional brass players. This study was designed to analyze activity changes along with topographic representations in primary and nonprimary centers for somatosensory processing in patients with embouchure dystonia. We used event-related functional magnetic resonance imaging with automized tactile stimulation of dystonic (upper lip) and nondystonic (forehead and dorsal hand) body regions in 15 professional brass players with and without embouchure dystonia. Statistical analyses included whole-brain between-group comparisons of stimulation-induced activation and region-of-interest-based single patient analyses of topographic activation characteristics. Affected musicians revealed increased stimulation-induced activity in contralateral primary and bilateral secondary somatosensory representations of dystonic and nondystonic body regions as well as in the cerebellum ipsilateral to the left dystonic upper lip. Changes of somatotopic organization with altered intracortical distances and between-group differences of the centers of representations were found in the right primary and the bilateral secondary somatosensory cortex and in the left cerebellum. Positional variability of dystonic and nondystonic body regions was reduced with an emphasis on face representations. The present findings are supportive of the concept of an abnormal processing of somatosensory information in embouchure dystonia affecting multiple domains. The underlying neurophysiological mechanisms (eg, changes in inhibition, maladaptive plasticity, changes in baseline activity) remain unclear. The involvement of nondystonic body areas can be viewed in the context of possible compensation or an endophenotypic predisposition. © 2016 International Parkinson and Movement Disorder Society. © 2016 International Parkinson and Movement Disorder Society.

Motor cortex stimulation does not improve dystonia secondary to a focal basal ganglia lesion.

PubMed

Rieu, Isabelle; Aya Kombo, Magaly; Thobois, Stéphane; Derost, Philippe; Pollak, Pierre; Xie, Jing; Pereira, Bruno; Vidailhet, Marie; Burbaud, Pierre; Lefaucheur, Jean Pascal; Lemaire, Jean Jacques; Mertens, Patrick; Chabardes, Stephan; Broussolle, Emmanuel; Durif, Franck

2014-01-14

To assess the efficacy of epidural motor cortex stimulation (MCS) on dystonia, spasticity, pain, and quality of life in patients with dystonia secondary to a focal basal ganglia (BG) lesion. In this double-blind, crossover, multicenter study, 5 patients with dystonia secondary to a focal BG lesion were included. Two quadripolar leads were implanted epidurally over the primary motor (M1) and premotor cortices, contralateral to the most dystonic side. The leads were placed parallel to the central sulcus. Only the posterior lead over M1 was activated in this study. The most lateral or medial contact of the lead (depending on whether the dystonia predominated in the upper or lower limb) was selected as the anode, and the other 3 as cathodes. One month postoperatively, patients were randomly assigned to on- or off-stimulation for 3 months each, with a 1-month washout between the 2 conditions. Voltage, frequency, and pulse width were fixed at 3.8 V, 40 Hz, and 60 μs, respectively. Evaluations of dystonia (Burke-Fahn-Marsden Scale), spasticity (Ashworth score), pain intensity (visual analog scale), and quality of life (36-Item Short Form Health Survey) were performed before surgery and after each period of stimulation. Burke-Fahn-Marsden Scale, Ashworth score, pain intensity, and quality of life were not statistically significantly modified by MCS. Bipolar epidural MCS failed to improve any clinical feature in dystonia secondary to a focal BG lesion. This study provides Class I evidence that bipolar epidural MCS with the anode placed over the motor representation of the most affected limb failed to improve any clinical feature in dystonia secondary to a focal BG lesion.

The Effects of Torsional Preloading on the Torsional Resistance of Nickel-titanium Instruments.

PubMed

Oh, Seung-Hei; Ha, Jung-Hong; Kwak, Sang Won; Ahn, Shin Wook; Lee, WooCheol; Kim, Hyeon-Cheol

2017-01-01

This study evaluated the effect of torsional preloading on the torsional resistance of nickel-titanium (NiTi) endodontic instruments. WaveOne Primary (Dentsply Maillefer, Ballaigues, Switzerland) and ProTaper Universal F2 (Dentsply Maillefer) files were used. The ultimate torsional strength until fracture was determined for each instrument. In the phase 1 experiment, the ProTaper and WaveOne files were loaded to have a maximum load from 2.0 up to 2.7 or 2.8 Ncm, respectively. In the phase 2 experiment, the number of repetitions of preloading for each file was increased from 50 to 200, whereas the preloading torque was fixed at 2.4 Ncm. Using torsionally preloaded specimens from phase 1 and 2, the torsional resistances were calculated to determine the ultimate strength, distortion angle, and toughness. The results were analyzed using 1-way analysis of variance and Duncan post hoc comparison. The fracture surfaces and longitudinal aspect of 5 specimens per group were examined under a scanning electron microscope. All preloaded groups showed significantly higher ultimate strength than the unpreloaded groups (P < .05). There was no significant difference among all groups for distortion angle and toughness. Although WaveOne had no significant difference between the repetition groups for ultimate strength, fracture angle, and toughness, ProTaper had a higher distortion angle and toughness in the 50-repetition group compared with the other repetition groups (P < .05). Scanning electron microscopic examinations of the fractured surface showed typical features of torsional fracture. Torsional preloading within the ultimate values could enhance the torsional strength of NiTi instruments. The total energy until fracture was maintained constantly, regardless of the alloy type. Copyright © 2016 American Association of Endodontists. Published by Elsevier Inc. All rights reserved.

Clustering of dystonia in some pedigrees with autosomal dominant essential tremor suggests the existence of a distinct subtype of essential tremor

PubMed Central

2010-01-01

Background There is an ongoing debate whether essential tremor (ET) represents a monosymptomatic disorder or other neurologic symptoms are compatible with the diagnosis of ET. Many patients with clinically definite ET develop dystonia. It remains unknown whether tremor associated with dystonia represent a subtype of ET. We hypothesized that ET with dystonia represents a distinct subtype of ET. Methods We studied patients diagnosed with familial ET and dystonia. We included only those patients whose first-degree relatives met diagnostic criteria for ET or dystonia with tremor. This cohort was ascertained for the presence of focal, segmental, multifocal, hemidystonia or generalized dystonia, and ET. Results We included 463 patients from 97 kindreds with autosomal dominant mode of inheritance (AD), defined by the vertical transmission of the disease. ET was the predominant phenotype in every ascertained family and each was phenotypically classified as AD ET. "Pure" ET was present in 365 individuals. Focal or segmental dystonia was present in 98 of the 463 patients; 87 of the 98 patients had ET associated with dystonia, one had dystonic tremor and ten had isolated dystonia. The age of onset and tremor severity did not differ between patients with "pure" ET and ET associated with dystonia. We did not observe a random distribution of dystonia in AD ET pedigrees and all patients with dystonia associated with ET were clustered in 28% of all included pedigrees (27/97, p < 0.001). Conclusions Our results suggest that familial ET associated with dystonia may represent a distinct subtype of ET. PMID:20670416

Regaining motor control in musician's dystonia by restoring sensorimotor organisation

PubMed Central

Rosenkranz, Karin; Butler, Katherine; Williamon, Aaron; Rothwell, John C.

2010-01-01

Professional musicians are an excellent human model of long term effects of skilled motor training on the structure and function of the motor system. However, such effects are accompanied by an increased risk of developing motor abnormalities, in particular musician's dystonia. Previously we found that there was an expanded spatial integration of proprioceptive input into the hand area of motor cortex (sensorimotor organisation, SMO) in healthy musicians as tested with a transcranial magnetic stimulation (TMS) paradigm. In musician's dystonia, this expansion was even larger, resulting in a complete lack of somatotopic organisation. We hypothesised that the disordered motor control in musician's dystonia is a consequence of the disordered SMO. In the present paper we test this idea by giving pianists with musician's dystonia 15 min experience of a modified proprioceptive training task. This restored SMO towards that seen in healthy pianists. Crucially, motor control of the affected task improved significantly and objectively as measured with a MIDI piano, and the amount of behavioural improvement was significantly correlated to the degree of sensorimotor re-organisation. In healthy pianists and non-musicians, the SMO and motor performance remained essentially unchanged. These findings suggest a link between the differentiation of SMO in the hand motor cortex and the degree of motor control of intensively practiced tasks in highly skilled individuals. PMID:19923295

Slowly progressive cerebellar ataxia and cervical dystonia: clinical presentation of a new form of spinocerebellar ataxia?

PubMed

Kuoppamäki, Mikko; Giunti, Paula; Quinn, Niall; Wood, Nicholas W; Bhatia, Kailash P

2003-02-01

We describe 5 cases with a rare combination of young-onset, slowly progressive cerebellar ataxia and cervical dystonia. Two were sporadic, whereas the other 3 were familial, including 2 from one family. The age of onset of these cases was between 16 and 37 years. The presenting symptom was cervical dystonia and/or dystonic head tremor in 3 patients and hand or lower limb tremor in 2. In 2 cases, cervical dystonia and/or dystonic head tremor developed approximately 6 to 10 years before cerebellar dysfunction, and in three they developed at the same time. Apart from cervical dystonia, there was mild dystonic limb involvement in 2 cases, but generalized dystonia was not seen. Cerebellar ataxia was slowly progressive. A literature search showed 10 cases of cervical dystonia associated with genetically undetermined (n = 5) or genetically proven (n = 5) spinocerebellar ataxia (SCA). When the genotype was known, these patients had either SCA3, 6, 7, or 12. However, our 5 cases (or their first-degree relatives) tested negative for SCA1, 2, 3, 6, and 7, and in the 4 cases (or their first-degree relatives) tested for SCA12, the result was negative. We propose that this rare phenotype manifesting as a combination of cerebellar ataxia and cervical dystonia may represent one or more new, as yet uncharacterized, genotypes of inherited young-onset spinocerebellar ataxia. Copyright Movement Disorder Society

Developing Gene Silencing for the Study and Treatment of Dystonia

DTIC Science & Technology

2016-10-01

eliminate the symptoms? Are the motor deficits in DYT1 dystonia reversible? We propose to use a novel rat model of DYT1 dystonia and infuse antisense...suppressing expression of mutant torsinA in striatum or cerebellum using AAV1 reverses the motor phenotype in aged DYT1 rats . 4. IMPACT What was...different areas of the brain, and w e w ill measure if they are able to reverse known abnormalities that occur in the brain of DYT1 rats , including abnormal

Update on Deep Brain Stimulation for Dyskinesia and Dystonia: A Literature Review

PubMed Central

TODA, Hiroki; SAIKI, Hidemoto; NISHIDA, Namiko; IWASAKI, Koichi

2016-01-01

Deep brain stimulation (DBS) has been an established surgical treatment option for dyskinesia from Parkinson disease and for dystonia. The present article deals with the timing of surgical intervention, selecting an appropriate target, and minimizing adverse effects. We provide an overview of current evidences and issues for dyskinesia and dystonia as well as emerging DBS technology. PMID:27053331

Hereditary whispering dysphonia.

PubMed Central

Parker, N

1985-01-01

An Australian family group is described where at least twenty members have inherited torsion dystonia and two siblings with an affected mother have similar clinical manifestations, but have also the biochemical and pathological changes found in Wilson's disease. Whispering dysphonia was the commonest presenting symptom, and a diagnosis of hysteria was invariably made if the family history was not known. This group emphasises the enormously varied ways in which torsion dystonia may be manifested in one family, and raises the possibility of a disturbance in copper transport in diseases of the basal ganglia other than Wilson's disease. Images PMID:3156966

Central Motor Conduction Studies and Diagnostic Magnetic Resonance Imaging in Children with Severe Primary and Secondary Dystonia

ERIC Educational Resources Information Center

McClelland, Verity; Mills, Kerry; Siddiqui, Ata; Selway, Richard; Lin, Jean-Pierre

2011-01-01

Aim: Dystonia in childhood has many causes. Imaging may suggest corticospinal tract dysfunction with or without coexistent basal ganglia damage. There are very few published neurophysiological studies on children with dystonia; one previous study has focused on primary dystonia. We investigated central motor conduction in 62 children (34 males, 28…

Quality and reporting of guidelines on the diagnosis and management of dystonia.

PubMed

Tamás, G; Abrantes, C; Valadas, A; Radics, P; Albanese, A; Tijssen, M A J; Ferreira, J J

2018-02-01

The quality of clinical practice guidelines on dystonia has not yet been assessed. Our aim was to appraise the methodological quality of guidelines worldwide and to analyze the consistency of their recommendations. We searched for clinical practice guidelines on dystonia diagnosis/treatment in the National Guideline Clearinghouse, PubMed, National Institute for Health and Care Excellence, Guidelines International Network and Web of Science databases. We also searched for guidelines on homepages of international neurological societies. We asked for guidelines from every Management Committee member of the BM1101 Action of the Cooperation between Science and Technology European framework and every member of the International Parkinson and Movement Disorders Society with special interest in dystonia. Fifteen guidelines were evaluated. Among guidelines on treatment, only one from the American Academy of Neurology could be considered as high quality. Among guidelines on diagnosis and therapy, the guideline from the European Federation of Neurological Societies was recommended by the appraisers. Clinical applicability and reports of editorial independence were the greatest shortcomings. The rigor of development was poor and stakeholder involvement was also incomplete in most guidelines. Discrepancies among recommendations may result from the weight given to consensus statements and expert opinions due to the lack of evidence, as well as inaccuracy of disease classification. The quality of appraised guidelines was low. It is necessary to improve the quality of guidelines on dystonia, and the applied terminology of dystonia also needs to be standardized. © 2017 EAN.

Torsion and buckling of open sections

NASA Technical Reports Server (NTRS)

Wagner, H; Pretschner, W

1936-01-01

Following an abstract of the well-known theory of torsion in compression, the writers give directions for the practical calculation of the values of C(sub BT) (resistance to flexure and torsion) and i(sub SP(exp 2)), which determine the torsion. The second part treats the experiments in support of the theory of torsion of plain and flanged angle sections.

Deep Brain Stimulation for Dystonia: A Novel Perspective on the Value of Genetic Testing

PubMed Central

Jinnah, H. A.; Alterman, Ron; Klein, Christine; Krauss, Joachim K.; Moro, Elena; Vidailhet, Marie; Raike, Robert

2017-01-01

The dystonias are a group of disorders characterized by excessive muscle contractions leading to abnormal movements and postures. There are many different clinical manifestations and underlying causes. Deep brain stimulation (DBS) provides an effect treatment, but outcomes can vary considerably among the different subtypes of dystonia. Several variables are thought to contribute to this variation including age of onset and duration of dystonia, specific characteristics of the dystonic movements, location of stimulation and stimulator settings, and others. The potential contributions of genetic factors have received little attention. In this review, we summarize evidence that some of the variation in DBS outcomes for dystonia is due to genetic factors. The evidence suggests that more methodical genetic testing may provide useful information in the assessment of potential surgical candidates, and in advancing our understanding of the biological mechanisms that influence DBS outcomes. PMID:28160152

Functional activity of the sensorimotor cortex and cerebellum relates to cervical dystonia symptoms.

PubMed

Burciu, Roxana G; Hess, Christopher W; Coombes, Stephen A; Ofori, Edward; Shukla, Priyank; Chung, Jae Woo; McFarland, Nikolaus R; Wagle Shukla, Aparna; Okun, Michael S; Vaillancourt, David E

2017-09-01

Cervical dystonia (CD) is the most common type of focal dystonia, causing abnormal movements of the neck and head. In this study, we used noninvasive imaging to investigate the motor system of patients with CD and uncover the neural correlates of dystonic symptoms. Furthermore, we examined whether a commonly prescribed anticholinergic medication in CD has an effect on the dystonia-related brain abnormalities. Participants included 16 patients with CD and 16 healthy age-matched controls. We collected functional MRI scans during a force task previously shown to extensively engage the motor system, and diffusion and T1-weighted MRI scans from which we calculated free-water and brain tissue densities. The dystonia group was also scanned ca. 2 h after a 2-mg dose of trihexyphenidyl. Severity of dystonia was assessed pre- and post-drug using the Burke-Fahn-Marsden Dystonia Rating Scale. Motor-related activity in CD was altered relative to controls in the primary somatosensory cortex, cerebellum, dorsal premotor and posterior parietal cortices, and occipital cortex. Most importantly, a regression model showed that increased severity of symptoms was associated with decreased functional activity of the somatosensory cortex and increased activity of the cerebellum. Structural imaging measures did not differ between CD and controls. The single dose of trihexyphenidyl altered the fMRI signal in the somatosensory cortex but not in the cerebellum. Symptom severity was not significantly reduced post-treatment. Findings show widespread changes in functional brain activity in CD and most importantly that dystonic symptoms relate to disrupted activity in the somatosensory cortex and cerebellum. Hum Brain Mapp 38:4563-4573, 2017. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

Programming Deep Brain Stimulation for Tremor and Dystonia: The Toronto Western Hospital Algorithms.

PubMed

Picillo, Marina; Lozano, Andres M; Kou, Nancy; Munhoz, Renato Puppi; Fasano, Alfonso

2016-01-01

Deep brain stimulation (DBS) is an effective treatment for essential tremor (ET) and dystonia. After surgery, a number of extensive programming sessions are performed, mainly relying on neurologist's personal experience as no programming guidelines have been provided so far, with the exception of recommendations provided by groups of experts. Finally, fewer information is available for the management of DBS in ET and dystonia compared with Parkinson's disease. Our aim is to review the literature on initial and follow-up DBS programming procedures for ET and dystonia and integrate the results with our current practice at Toronto Western Hospital (TWH) to develop standardized DBS programming protocols. We conducted a literature search of PubMed from inception to July 2014 with the keywords "balance", "bradykinesia", "deep brain stimulation", "dysarthria", "dystonia", "gait disturbances", "initial programming", "loss of benefit", "micrographia", "speech", "speech difficulties" and "tremor". Seventy-six papers were considered for this review. Based on the literature review and our experience at TWH, we refined three algorithms for management of ET, including: (1) initial programming, (2) management of balance and speech issues and (3) loss of stimulation benefit. We also depicted algorithms for the management of dystonia, including: (1) initial programming and (2) management of stimulation-induced hypokinesia (shuffling gait, micrographia and speech impairment). We propose five algorithms tailored to an individualized approach to managing ET and dystonia patients with DBS. We encourage the application of these algorithms to supplement current standards of care in established as well as new DBS centers to test the clinical usefulness of these algorithms in supplementing the current standards of care. Copyright © 2016 Elsevier Inc. All rights reserved.

Anodal transcranial direct current stimulation to the cerebellum improves handwriting and cyclic drawing kinematics in focal hand dystonia.

PubMed

Bradnam, Lynley V; Graetz, Lynton J; McDonnell, Michelle N; Ridding, Michael C

2015-01-01

There is increasing evidence that the cerebellum has a role in the pathophysiology of primary focal hand dystonia and might provide an intervention target for non-invasive brain stimulation to improve function of the affected hand. The primary objective of this study was to determine if cerebellar transcranial direct current stimulation (tDCS) improves handwriting and cyclic drawing kinematics in people with hand dystonia, by reducing cerebellar-brain inhibition (CBI) evoked by transcranial magnetic stimulation (TMS). Eight people with dystonia (5 writer's dystonia, 3 musician's dystonia) and eight age-matched controls completed the study and underwent cerebellar anodal, cathodal and sham tDCS in separate sessions. Dystonia severity was assessed using the Writer's Cramp Rating Scale (WRCS) and the Arm Dystonia Disability Scale (ADDS). The kinematic measures that differentiated the groups were; mean stroke frequency during handwriting and fast cyclic drawing and average pen pressure during light cyclic drawing. TMS measures of cortical excitability were no different between people with FHD and controls. There was a moderate, negative relationship between TMS-evoked CBI at baseline and the WRCS in dystonia. Anodal cerebellar tDCS reduced handwriting mean stroke frequency and average pen pressure, and increased speed and reduced pen pressure during fast cyclic drawing. Kinematic measures were not associated with a decrease in CBI within an individual. In conclusion, cerebellar anodal tDCS appeared to improve kinematics of handwriting and circle drawing tasks; but the underlying neurophysiological mechanism remains uncertain. A study in a larger homogeneous population is needed to further investigate the possible therapeutic benefit of cerebellar tDCS in dystonia.

Isolated penile torsion in newborns.

PubMed

Eroglu, Egemen; Gundogdu, Gokhan

2015-01-01

We reported on the incidence of isolated penile torsion among our healthy children and our approach to this anomaly. Between 2011 and 2014, newborn babies with penile torsion were classified according to the angle of torsion. Surgical correction (penile degloving and reattachment for moderate cases and dorsal dartos flap technique in case of resistance) after 6 months was advised to the babies with rotations more than 45°. Among 1000 newborn babies, 200 isolated penile torsions were found, and among these, 43 had torsions more than 45°, and 4 of these had angles greater than 90°. The mean angle of the rotations was found 30.45° (median: 20°). In total, 8 children with 60° torsions were previously circumcised. Surgery was performed on 19 patients, with a mean patient age of 12 ± 2 months. Of these 19, 13 babies were corrected with degloving and reattachment. This technique was not enough on the remaining 6 patients; therefore, derotational dorsal dartos flap was added to correct the torsion. After a mean of 15.6 ± 9.8 months, residual penile rotation, less than 15°, was found only in 2 children. The incidence of isolated penile torsion is 20% in newborns. However, rotation more than 45° angles are seen in 4.3% of male babies. Correction is not necessary in mild degrees, and penile degloving with reattachment is enough in most cases. If the initial correction is insufficient, dorsal dartos flap rotation is easy and effective. Prior circumcision neither disturbs the operative procedure nor affects the outcomes.

Development of a simple computerized torsion test to quantify subjective ocular torsion.

PubMed

Kim, Y D; Yang, H K; Hwang, J-M

2017-11-01

PurposeThe double Maddox-rod test (DMRT) and Lancaster red-green test (LRGT) are the most widely used tests worldwide to assess subjective ocular torsion. However, these tests require equipment and the quantified results of ocular torsion are only provided in rough values. Here we developed a novel computerized torsion test (CTT) for individual assessment of subjective ocular torsion and validated the reliability and accuracy of the test compared with those of the DMRT and LRGT.MethodsA total of 30 patients with cyclovertical strabismus and 30 controls were recruited. The CTT was designed using Microsoft Office PowerPoint. Subjects wore red-green filter spectacles and viewed gradually tilted red and cyan lines on an LCD monitor and pressed the keyboard to go through the slides, until both lines seemed parallel. All subjects underwent the CTT, DMRT, and LRGT. Intraclass correlation coefficients and Bland-Altman plots were analyzed to assess the acceptability of the CTT compared with that of the DMRT.ResultsBoth the DMRT and CTT showed no significant test-retest differences in the strabismus and control groups. The DMRT and CTT results demonstrated an acceptable agreement. The reliability of the CTT was better than that of the DMRT. The LRGT showed low sensitivity for the detection of ocular torsion compared with the DMRT (40.0%) and CTT (39.1%).ConclusionOur results suggest that the assessment of subjective ocular torsion using the CTT based on PowerPoint software is simple, reproducible, and accurate and can be applied in clinical practice.

Inter-study reproducibility of left ventricular torsion and torsion rate quantification using MR myocardial feature tracking.

PubMed

Kowallick, Johannes T; Morton, Geraint; Lamata, Pablo; Jogiya, Roy; Kutty, Shelby; Lotz, Joachim; Hasenfuß, Gerd; Nagel, Eike; Chiribiri, Amedeo; Schuster, Andreas

2016-01-01

To determine the inter-study reproducibility of MR feature tracking (MR-FT) derived left ventricular (LV) torsion and torsion rates for a combined assessment of systolic and diastolic myocardial function. Steady-state free precession (SSFP) cine LV short-axis stacks were acquired at 9:00 (Exam A), 9:30 (Exam B), and 14:00 (Exam C) in 16 healthy volunteers at 3 Tesla. SSFP images were analyzed offline using MR-FT to assess rotational displacement in apical and basal slices. Global peak torsion, peak systolic and peak diastolic torsion rates were calculated using different definitions ("twist", "normalized twist" and "circumferential-longitudinal (CL) shear angle"). Exam A and B were compared to assess the inter-study reproducibility. Morning and afternoon scans were compared to address possible diurnal variation. The different methods showed good inter-study reproducibility for global peak torsion (intraclass correlation coefficient [ICC]: 0.90-0.92; coefficient of variation [CoV]: 19.0-20.3%) and global peak systolic torsion rate (ICC: 0.82-0.84; CoV: 25.9-29.0%). Conversely, global peak diastolic torsion rate showed little inter-study reproducibility (ICC: 0.34-0.47; CoV: 40.8-45.5%). Global peak torsion as determined by the CL shear angle showed the best inter-study reproducibility (ICC: 0.90;CoV: 19.0%). MR-FT results were not measurably affected by diurnal variation between morning and afternoon scans (CL shear angle: 4.8 ± 1.4°, 4.8 ± 1.5°, and 4.1 ± 1.6° for Exam A, B, and C, respectively; P = 0.21). MR-FT based derivation of myocardial peak torsion and peak systolic torsion rate has high inter-study reproducibility as opposed to peak diastolic torsion rate. The CL shear angle was the most reproducible parameter independently of cardiac anatomy and may develop into a robust tool to quantify cardiac rotational mechanics in longitudinal MR-FT patient studies. © 2015 Wiley Periodicals, Inc.

[A case of 77-year-old male with spinocerebellar ataxia type 31 with left dominant dystonia].

PubMed

Saito, Rie; Kikuno, Shota; Maeda, Meiko; Uesaka, Yoshikazu; Ida, Masahiro

2014-01-01

We report on the case of a 77-year-old male with genetically proven spinocerebellar ataxia type 31 (SCA31) who had dystonia. He was referred to our hospital for evaluation following a 6-year history of slowly progressive unsteadiness of his left leg during walking and dysarthria at the age of 62 years old. On the basis of his symptoms, we diagnosed him as spinocerebellar degeneration (SCD), and prescribed taltirelin hydrate. However, his symptoms continued to worsen. He required a cane for walking at the age of 63 years, and a wheelchair at the age of 66 years. He was admitted to our hospital following acute cerebral infarction at the age of 77 years. On examination at admission, right hemiparesis and cerebellar ataxia were detected. And left hallux moved involuntarily toward the top surface of the foot at rest, that is dystonia. The dystonia was not associated with cerebral infarction, because it had been several years with dystonia that he got cerebral infarction. Genetic analysis revealed that this patient harbored a heterozygous SCA31 mutation. Previously there have been no reports of SCA31 associated with dystonia. Our case report support clinical heterogeneity of SCA31, and highlight the importance of considering this type in patients with dystonia and ataxia. Patients with the combination of dystonia and ataxia and a family history of a neurodegenerative disorder should be tested for SCA31.

Torsional Tribological Behavior and Torsional Friction Model of Polytetrafluoroethylene against 1045 Steel

PubMed Central

Wang, Shibo; Niu, Chengchao

2016-01-01

In this work, the plane-on-plane torsional fretting tribological behavior of polytetrafluoroethylene (PTFE) was studied. A model of a rigid, flat-ended punch acting on an elastic half-space was built according to the experimental conditions. The results indicate that the shape of T–θ curves was influenced by both the torsional angle and the normal load. The torsion friction torque and wear rate of PTFE exponentially decreased when the torsion angle rose. The torsional torque increased from 0.025 N·m under a normal load of 43 N to 0.082 N·m under a normal load of 123 N. With sequentially increasing normal load, the value of torque was maintained. With rising normal load, the wear mass loss of PTFE disks was increased and the wear rate was decreased. Good agreement was found with the calculated torque according to the model and the experimental torque except for that under a normal load of 163 N. The difference under a normal load of 163 N was caused by the coefficient of friction. Usually the coefficient of friction of a polymer decreases with increasing normal load, whereas a constant coefficient of friction was applied in the model. PMID:26799324

Distribution and Coexistence of Myoclonus and Dystonia as Clinical Predictors of SGCE Mutation Status: A Pilot Study.

PubMed

Zutt, Rodi; Dijk, Joke M; Peall, Kathryn J; Speelman, Hans; Dreissen, Yasmine E M; Contarino, Maria Fiorella; Tijssen, Marina A J

2016-01-01

Myoclonus-dystonia (M-D) is a young onset movement disorder typically involving myoclonus and dystonia of the upper body. A proportion of the cases are caused by mutations to the autosomal dominantly inherited, maternally imprinted, epsilon-sarcoglycan gene (SGCE). Despite several sets of diagnostic criteria, identification of patients most likely to have an SGCE mutation remains difficult. Forty consecutive patients meeting pre-existing diagnostic clinical criteria for M-D underwent a standardized clinical examination (20 SGCE mutation positive and 20 negative). Each video was reviewed and systematically scored by two assessors blinded to mutation status. In addition, the presence and coexistence of myoclonus and dystonia was recorded in four body regions (neck, arms, legs, and trunk) at rest and with action. Thirty-nine patients were included in the study (one case was excluded owing to insufficient video footage). Based on previously proposed diagnostic criteria, patients were subdivided into 24 "definite," 5 "probable," and 10 "possible" M-D. Motor symptom severity was higher in the SGCE mutation-negative group. Myoclonus and dystonia were most commonly observed in the neck and upper limbs of both groups. Truncal dystonia with action was significantly seen more in the mutation-negative group (p < 0.05). Coexistence of myoclonus and dystonia in the same body part with action was more commonly seen in the mutation-negative cohort (p < 0.05). Truncal action dystonia and coexistence of myoclonus and dystonia in the same body part with action might suggest the presence of an alternative mutation in patients with M-D.

Changes in resting-state connectivity in musicians with embouchure dystonia.

PubMed

Haslinger, Bernhard; Noé, Jonas; Altenmüller, Eckart; Riedl, Valentin; Zimmer, Claus; Mantel, Tobias; Dresel, Christian

2017-03-01

Embouchure dystonia is a highly disabling task-specific dystonia in professional brass musicians leading to spasms of perioral muscles while playing the instrument. As they are asymptomatic at rest, resting-state functional magnetic resonance imaging in these patients can reveal changes in functional connectivity within and between brain networks independent from dystonic symptoms. We therefore compared embouchure dystonia patients to healthy musicians with resting-state functional magnetic resonance imaging in combination with independent component analyses. Patients showed increased functional connectivity of the bilateral sensorimotor mouth area and right secondary somatosensory cortex, but reduced functional connectivity of the bilateral sensorimotor hand representation, left inferior parietal cortex, and mesial premotor cortex within the lateral motor function network. Within the auditory function network, the functional connectivity of bilateral secondary auditory cortices, right posterior parietal cortex and left sensorimotor hand area was increased, the functional connectivity of right primary auditory cortex, right secondary somatosensory cortex, right sensorimotor mouth representation, bilateral thalamus, and anterior cingulate cortex was reduced. Negative functional connectivity between the cerebellar and lateral motor function network and positive functional connectivity between the cerebellar and primary visual network were reduced. Abnormal resting-state functional connectivity of sensorimotor representations of affected and unaffected body parts suggests a pathophysiological predisposition for abnormal sensorimotor and audiomotor integration in embouchure dystonia. Altered connectivity to the cerebellar network highlights the important role of the cerebellum in this disease. © 2016 International Parkinson and Movement Disorder Society. © 2016 International Parkinson and Movement Disorder Society.

Prospective study of swallowing function in patients with cervical dystonia undergoing selective peripheral denervation

PubMed Central

Munchau, A; Good, C; McGowan, S; Quinn, N; Palmer, J; Bhatia, K

2001-01-01

OBJECTIVE—To characterise swallowing function in patients with cervical dystonia with botulinum toxin treatment failure, before and after selective peripheral denervation surgery.
METHODS—Twelve patients with cervical dystonia had a thorough examination including standardised assessment for cervical dystonia, scoring of subjective dysphagia, and videofluoroscopic swallow. Videofluoroscopy was scored by consensus opinion between a speech and language therapist and an independent blinded radiologist using a validated scoring system.
RESULTS—Seven patients with cervical dystonia experienced no subjective dysphagia either before or after surgery, although in all these patients there was objective videofluoroscopic evidence of underlying mild to moderate oropharyngeal dysphagia preoperatively and postoperatively. The most common finding was delayed initiation of swallow. Three other patients, also without subjective dysphagia before surgery, developed postoperative dysphagia. In these patients, videofluoroscopy showed a delayed swallow reflex before surgery, which was worse postoperatively in two. The remaining two patients had mild subjective dysphagia before surgery that improved postoperatively in one and deteriorated in the other. In the first, videofluoroscopy was normal preoperatively and postoperatively, and in the second, oral bolus preparation was moderately abnormal preoperatively and swallow initiation was delayed postoperatively. Mean subjective dysphagia scores did not change significantly. Apart from a significant improvement of tongue base retraction, videofluoroscopic scores were not significantly different after surgery. Postoperatively there was significant improvement of overall cervical dystonia severity and abnormal head rotation in the group as a whole. There was no correlation between age, duration of symptoms of cervical dystonia, preoperative or postoperative cervical dystonia severity, subjective dysphagia scores, or videofluoroscopic

Patterns of Cortical Synchronization in Isolated Dystonia Compared With Parkinson Disease

PubMed Central

Miocinovic, Svjetlana; de Hemptinne, Coralie; Qasim, Salman; Ostrem, Jill L.; Starr, Philip A.

2016-01-01

IMPORTANCE Isolated dystonia and Parkinson disease (PD) are disorders of the basal gangliothalamocortical network. They have largely distinct clinical profiles, but both disorders respond to deep brain stimulation (DBS) in the same subcortical targets using similar stimulation paradigms, suggesting pathophysiologic overlap. We hypothesized that, similar to PD, isolated dystonia is associated with elevated cortical neuronal synchronization. OBJECTIVE To investigate the electrophysiologic characteristics of the sensorimotor cortex arm-related area using a temporary subdural electrode strip in patients with isolated dystonia and PD undergoing DBS implantation in the awake state. DESIGN, SETTING, AND PARTICIPANTS An observational study recruited patients scheduled for DBS at the University of California, San Francisco and the San Francisco Veterans Affairs Medical Center. Data were collected from May 1, 2008, through April 1, 2015. Findings are reported for 22 patients with isolated cervical or segmental dystonia (8 with [DYST-ARM] and 14 without [DYST] arm symptoms] and 14 patients with akinetic rigid PD. Data were analyzed from November 1, 2014, through May 1, 2015. MAIN OUTCOMES AND MEASURES Cortical local field potentials, power spectral density, and phase-amplitude coupling (PAC). RESULTS Among our 3 groups that together included 36 patients, cortical PAC was present in primary motor and premotor arm-related areas for all groups, but the DYST group was less likely to exhibit increased PAC (P = .008). Similar to what has been shown for patients with PD, subthalamic DBS reversibly decreased PAC in a subset of patients with dystonia who were studied before and during intraoperative test stimulation (n = 4). At rest, broadband gamma (50–200 Hz) power in the primary motor cortex was greater in the DYST-ARM and PD groups compared with the DYST group, whereas alpha (8–13 Hz) and beta (13–30 Hz) power was comparable in all 3 groups. During movement, the DYST

Tiagabine treatment in kainic acid induced cerebellar lesion of dystonia rat model

PubMed Central

Wang, Tsui-chin; Ngampramuan, Sukonthar; Kotchabhakdi, Naiphinich

2016-01-01

Dystonia is a neurological disorder characterized by excessive involuntary muscle contractions that lead to twisting movements. The exaggerated movements have been studied and have implicated basal ganglia as the point of origin. In more recent studies, the cerebellum has also been identified as the possible target of dystonia, in the search for alternative treatments. Tiagabine is a selective GABA transporter inhibitor, which blocks the reuptake and recycling of GABA. The study of GABAergic drugs as an alternative treatment for cerebellar induced dystonia has not been reported. In our study, tiagabine was i.p. injected into kainic acid induced, cerebellar dystonic adult rats, and the effects were compared with non-tiagabine injected and sham-operated groups. Beam walking apparatus, telemetric electromyography (EMG) recording, and histological verification were performed to confirm dystonic symptoms in the rats on post-surgery treatment. Involuntary dystonic spasm was observed with repetitive rigidity, and twisting movements in the rats were also confirmed by a high score on the dystonic scoring and a high amplitude on the EMG data. The rats with tiagabine treatment were scored based on motor amelioration assessed via beam walking. The result of this study suggests and confirms that low dose of kainic acid microinjection is sufficient to induce dystonia from the cerebellar vermis. In addition, from the results of the EMG recording and the behavioral assessment through beam walking, tiagabine is demonstrated as being effective in reducing dystonic spasm and may be a possible alternative therapeutic drug in the treatment of dystonia. PMID:28337103

Anodal transcranial direct current stimulation to the cerebellum improves handwriting and cyclic drawing kinematics in focal hand dystonia

PubMed Central

Bradnam, Lynley V.; Graetz, Lynton J.; McDonnell, Michelle N.; Ridding, Michael C.

2015-01-01

There is increasing evidence that the cerebellum has a role in the pathophysiology of primary focal hand dystonia and might provide an intervention target for non-invasive brain stimulation to improve function of the affected hand. The primary objective of this study was to determine if cerebellar transcranial direct current stimulation (tDCS) improves handwriting and cyclic drawing kinematics in people with hand dystonia, by reducing cerebellar-brain inhibition (CBI) evoked by transcranial magnetic stimulation (TMS). Eight people with dystonia (5 writer’s dystonia, 3 musician’s dystonia) and eight age-matched controls completed the study and underwent cerebellar anodal, cathodal and sham tDCS in separate sessions. Dystonia severity was assessed using the Writer’s Cramp Rating Scale (WRCS) and the Arm Dystonia Disability Scale (ADDS). The kinematic measures that differentiated the groups were; mean stroke frequency during handwriting and fast cyclic drawing and average pen pressure during light cyclic drawing. TMS measures of cortical excitability were no different between people with FHD and controls. There was a moderate, negative relationship between TMS-evoked CBI at baseline and the WRCS in dystonia. Anodal cerebellar tDCS reduced handwriting mean stroke frequency and average pen pressure, and increased speed and reduced pen pressure during fast cyclic drawing. Kinematic measures were not associated with a decrease in CBI within an individual. In conclusion, cerebellar anodal tDCS appeared to improve kinematics of handwriting and circle drawing tasks; but the underlying neurophysiological mechanism remains uncertain. A study in a larger homogeneous population is needed to further investigate the possible therapeutic benefit of cerebellar tDCS in dystonia. PMID:26042019

Cortical activation and inter-hemispheric sensorimotor coherence in individuals with arm dystonia due to childhood stroke

PubMed Central

Kukke, Sahana N.; de Campos, Ana Carolina; Damiano, Diane; Alter, Katharine E.; Patronas, Nicholas; Hallett, Mark

2014-01-01

Objective Dystonia is a disabling motor disorder often without effective therapies. To better understand the genesis of dystonia after childhood stroke, we analyzed electroencephalographic (EEG) recordings in this population. Methods Resting spectral power of EEG signals over bilateral sensorimotor cortices (Powrest), resting inter-hemispheric sensorimotor coherence (Cohrest), and task-related changes in power (TRPow) and coherence (TRCoh) during wrist extension were analyzed in individuals with dystonia (age 20±3 years) and healthy volunteers (age 17±5 years). Results Ipsilesional TRPow decrease was significantly lower in patients than controls during the more affected wrist task. Force deficits of the affected wrist correlated with reduced alpha TRPow decrease on the ipsilesional and not the contralesional hemisphere. Cohrest was significantly lower in patients than controls, and correlated with more severe dystonia and poorer hand function. Powrest and TRCoh were similar between groups. Conclusions The association between weakness and cortical activation during wrist extension highlights the importance of ipsilesional sensorimotor activation on function. Reduction of Cohrest in patients reflects a loss of inter-hemispheric connectivity that may result from structural changes and neuroplasticity, potentially contributing to the development of dystonia. Significance Cortical and motor dysfunction are correlated in patients with childhood stroke and may in part explain the genesis of dystonia. PMID:25499610

Cortical activation and inter-hemispheric sensorimotor coherence in individuals with arm dystonia due to childhood stroke.

PubMed

Kukke, Sahana N; de Campos, Ana Carolina; Damiano, Diane; Alter, Katharine E; Patronas, Nicholas; Hallett, Mark

2015-08-01

Dystonia is a disabling motor disorder often without effective therapies. To better understand the genesis of dystonia after childhood stroke, we analyzed electroencephalographic (EEG) recordings in this population. Resting spectral power of EEG signals over bilateral sensorimotor cortices (Powrest), resting inter-hemispheric sensorimotor coherence (Cohrest), and task-related changes in power (TRPow) and coherence (TRCoh) during wrist extension were analyzed in individuals with dystonia (age 20±3years) and healthy volunteers (age 17±5years). Ipsilesional TRPow decrease was significantly lower in patients than controls during the more affected wrist task. Force deficits of the affected wrist correlated with reduced alpha TRPow decrease on the ipsilesional and not the contralesional hemisphere. Cohrest was significantly lower in patients than controls, and correlated with more severe dystonia and poorer hand function. Powrest and TRCoh were similar between groups. The association between weakness and cortical activation during wrist extension highlights the importance of ipsilesional sensorimotor activation on function. Reduction of Cohrest in patients reflects a loss of inter-hemispheric connectivity that may result from structural changes and neuroplasticity, potentially contributing to the development of dystonia. Cortical and motor dysfunction are correlated in patients with childhood stroke and may in part explain the genesis of dystonia. Published by Elsevier Ireland Ltd.

Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency.

PubMed

Serrano, Mercedes; Rebollo, Mónica; Depienne, Christel; Rastetter, Agnès; Fernández-Álvarez, Emilio; Muchart, Jordi; Martorell, Loreto; Artuch, Rafael; Obeso, José A; Pérez-Dueñas, Belén

2012-09-01

Thiamine transporter-2 deficiency, a condition resulting from mutations in the SLC19A3 gene, has been described in patients with subacute dystonia and striatal necrosis. The condition responds extremely well to treatment with biotin and has thus been named biotin-responsive basal ganglia disease. Recently, this deficiency has also been related to Wernicke's-like encephalopathy and atypical infantile spasms, showing heterogeneous responses to biotin and/or thiamine. Two Spanish siblings with a biotin-responsive basal ganglia disease phenotype and mutations in SLC19A3 presented with acute episodes of generalized dystonia, rigidity, and symmetrical lesions involving the striatum, midline nuclei of the thalami, and the cortex of cerebral hemispheres as shown by magnetic resonance imaging. The clinical features resolved rapidly after thiamine administration. Despite the rarity of thiamine transporter-2 deficiency, it should be suspected in patients with acute dystonia and basal ganglia injury, as thiamine can halt disease evolution and prevent further episodes. © 2012 Movement Disorder Society. Copyright © 2012 Movement Disorder Society.

Lower KV7.5 Potassium Channel Subunit Expression in an Animal Model of Paroxysmal Dystonia.

PubMed

Sander, Svenja E; Diwan, Mustansir; Raymond, Roger; Nobrega, José N; Richter, Angelika

2016-01-01

Dystonia is a hyperkinetic disabling movement disorder. In the dt(sz) hamster, a model of paroxysmal dystonia, pronounced antidystonic effects of the KV7.2-5 potassium channel opener retigabine and aggravation of dystonia by a selective KV7.2-5 blocker indicated a pathophysiological role of an abnormal expression of KV7 channels. We therefore investigated the expression of KV7 subunits in brains of dystonic hamsters. While KV7.2 and KV7.3 subunits were unaltered, lower KV7.5 mRNA levels became evident in motor areas and in limbic structures of dystonic hamsters. The KV7.2/3 subunit-preferring channel opener N-(6-chloropyridin-3-yl)-3,4- difluorobenzamide (ICA 27243; 10-30 mg/kg i.p.) failed to reduce the severity of dystonia in mutant hamsters, suggesting that the previously observed antidystonic action of retigabine is mediated by the activation of KV7.5 channels. The experiments indicate a functional relevance for KV7.5 channels in paroxysmal dystonia. We suggest that compounds highly selective for subtypes of KV7 channels, i.e. for KV7.5, may provide new therapeutic approaches.

Intermittent Ovarian Torsion in Pregnancy

PubMed Central

Young, Randall; Cork, Kelly

2017-01-01

Ovarian torsion during pregnancy is a fairly uncommon complication with a high patient morbidity and fetal mortality if not immediately treated. Ovarian torsion should be considered a clinical diagnosis, and a high level of clinical suspicion is needed by the practitioner to ensure that this diagnosis is not missed. We present an unusual case of intermittent ovarian torsion discussing both the presentation and the operative and post-operative management. PMID:29849404

Finger-specific loss of independent control of movements in musicians with focal dystonia.

PubMed

Furuya, S; Altenmüller, E

2013-09-05

The loss of independent control of finger movements impairs the dexterous use of the hand. Focal hand dystonia is characterised by abnormal structural and functional changes at the cortical and subcortical regions responsible for individuated finger movements and by the loss of surround inhibition in the finger muscles. However, little is known about the pathophysiological impact of focal dystonia on the independent control of finger movements. Here we addressed this issue by asking pianists with and without focal dystonia to repetitively strike a piano key with one of the four fingers as fast as possible while the remaining digits kept the adjacent keys depressed. Using principal component analysis and cluster analysis to the derived keystroke data, we successfully classified pianists according to the presence or absence of dystonic symptoms with classification rates and cross-validation scores of approximately 90%. This confirmed the effects of focal dystonia on the individuated finger movements. Interestingly, the movement features that contributed to successful classification differed across fingers. Compared to healthy pianists, pianists with an affected index finger were characterised predominantly by stronger keystrokes, whereas pianists with affected middle or ring fingers exhibited abnormal temporal control of the keystrokes, such as slowness and rhythmic inconsistency. The selective alternation of the movement features indicates a finger-specific loss of the independent control of finger movements in focal dystonia of musicians. Copyright © 2013 IBRO. Published by Elsevier Ltd. All rights reserved.

Speed-accuracy trade-off in a trajectory-constrained self-feeding task: a quantitative index of unsuppressed motor noise in children with dystonia

PubMed Central

Lunardini, Francesca; Bertucco, Matteo; Casellato, Claudia; Bhanpuri, Nasir; Pedrocchi, Alessandra; Sanger, Terence D.

2015-01-01

Motor speed and accuracy are both affected in childhood dystonia. Thus, deriving a speed-accuracy function is an important metric for assessing motor impairments in dystonia. Previous work in dystonia studied the speed-accuracy trade-off during point-to-point tasks. To achieve a more relevant measurement of functional abilities in dystonia, the present study investigates upper-limb kinematics and electromyographic activity of 8 children with dystonia and 8 healthy children during a trajectory-constrained child-relevant task that emulates self-feeding with a spoon and requires continuous monitoring of accuracy. The speed-accuracy trade-off is examined by changing the spoon size to create different accuracy demands. Results demonstrate that the trajectory-constrained speed-accuracy relation is present in both groups, but it is altered in dystonia in terms of increased slope and offset towards longer movement times. Findings are consistent with the hypothesis of increased signal-dependent noise in dystonia, which may partially explain the slow and variable movements observed in dystonia. PMID:25895910

Impaired Inhibitory Force Feedback in Fixed Dystonia.

PubMed

Mugge, Winfred; Schouten, Alfred C; van Hilten, Jacobus J; van der Helm, Frans C T

2016-04-01

Complex regional pain syndrome (CRPS) is a multifactorial disorder associated with an aberrant host response to tissue injury. About 25% of CRPS patients suffer poorly understood involuntary sustained muscle contractions associated with dysfunctional reflexes that result in abnormal postures (fixed dystonia). A recent modeling study simulated fixed dystonia (FD) caused by aberrant force feedback. The current study aims to validate this hypothesis by experimentally recording the modulation of reflexive force feedback in patients with FD. CRPS patients with and without FD, patients with FD but without CRPS, as well as healthy controls participated in the experiment. Three task instructions and three perturbation characteristics were used to evoke a wide range of responses to force perturbations. During position tasks ("maintain posture"), healthy subjects as well as patients resisted the perturbations, becoming more stiff than when being relaxed (i.e., the relax task). Healthy subjects and CRPS patients without FD were both more compliant during force tasks ("maintain force") than during relax tasks, meaning they actively gave way to the imposed forces. Remarkably, the patients with FD failed to do so. A neuromuscular model was fitted to the experimental data to separate the distinct contributions of position, velocity and force feedback, as well as co-contraction to the motor behavior. The neuromuscular modeling indicated that inhibitory force feedback is deregulated in patients with FD, for both CRPS and non-CRPS patients. From previously published simulation results and the present experimental study, it is concluded that aberrant force feedback plays a role in fixed dystonia.

[Myths and evidence on the use of botulinum toxin: neuropharmacology and dystonia].

PubMed

Garcia-Ruiz, P J; Sanz-Cartagena, P; Martinez-Castrillo, J C; Ares-Pensado, B; Aviles-Olmos, I; Blazquez-Estrada, M; Fanjul-Arbos, S; Garcia-Caldentey, J; Gazulla, J; Gutierrez-Garcia, J; Huete-Anton, B; Lucas-Rodenas, C; Luquin, M R; Martinez-Torres, I; Medialdea-Natera, P; Mendoza-Rodriguez, A; Mir-Rivera, P; Posada, I J; Ruiz-Martinez, J; Sanchez-Alonso, P; Trejo-Gabriel Y Galan, J M; Vela, L; Pena-Segura, J L

2018-03-01

Botulinum toxin type A (BTA) is a bacterial endotoxin, whose therapeutic use has had a dramatic impact on different neurological disorders, such as dystonia and spasticity. To analyze and summarize different questions about the use of BTA in our clinical practice. A group of experts in neurology developed a list of topics related with the use of BTA. Two groups were considered: neuropharmacology and dystonia. A literature search at PubMed, mainly for English language articles published up to June 2016 was performed. The manuscript was structured as a questionnaire that includes those questions that, according to the panel opinion, could generate more controversy or doubt. The initial draft was reviewed by the expert panel members to allow modifications, and after subsequent revisions for achieving the highest degree of consensus, the final text was then validated. Different questions about diverse aspects of neuropharmacology, such as mechanism of action, bioequivalence of the different preparations, immunogenicity, etc. were included. Regarding dystonia, the document included questions about methods of evaluation, cervical dystonia, blepharospasm, etc. This review does not pretend to be a guide, but rather a tool for continuous training of residents and specialists in neurology, about different specific areas of the management of BTA.

Cathodal transcranial direct current stimulation in children with dystonia: a sham-controlled study.

PubMed

Young, Scott J; Bertucco, Matteo; Sanger, Terence D

2014-02-01

Increased motor cortex excitability is a common finding in dystonia, and transcranial direct current stimulation can reduce motor cortex excitability. In an earlier study, we found that cathodal direct-current stimulation decreased motor overflow for some children with dystonia. To investigate this observation further, we performed a sham-controlled, double-blind, crossover study of 14 children with dystonia. We found a significant reduction in overflow following real stimulation, when participants performed the experimental task with the hand contralateral to the cathode. While these results suggest that cathodal stimulation may help some children to reduce involuntary overflow, the size of the effect is small. Further research will need to investigate ways to increase the magnitude of the effect of cathodal transcranial direct current stimulation.

Integration of Osteopathic Manual Treatments in Management of Cervical Dystonia with Tremor: A Case Series

PubMed Central

Halimi, Miriam; Leder, Adena; Mancini, Jayme D.

2017-01-01

Background Cervical dystonia, also known as spasmodic torticollis, is a chronic disorder in which patients exhibit involuntary repetitive contractions of neck muscles resulting in abnormal postures or movements. Occasionally, there is also a dystonic head tremor. The underlying mechanisms for cervical dystonia and dystonic tremor are not clear, and treatments are limited. Case Report In the present cases, two females with head tremor starting in adolescence developed worsening symptoms of cervical dystonia with dystonic tremor in their 60s. On osteopathic physical examination, both had a vertical type strain to the sphenobasilar synchondrosis. Discussion Vertical strains are more frequently found in patients after head trauma, congenital or later in life, than in healthy patients, and head trauma may have been a precipitating factor in these patients. There were improvements in cervical dystonia symptoms, including tremor, in both patients after osteopathic manual treatment. PMID:28119789

Cannabis in the Treatment of Dystonia, Dyskinesias, and Tics.

PubMed

Koppel, Barbara S

2015-10-01

Cannabis has been used for many medicinal purposes, including management of spasms, dystonia, and dyskinesias, with variable success. Its use for tetanus was described in the second century BCE, but the literature continues to include more case reports and surveys of its beneficial effects in managing symptoms of hyperkinetic movement disorders than randomized controlled trials, making evidence-based recommendations difficult. This paper reviews clinical research using various formulations of cannabis (botanical products, oral preparations containing ∆(9)-tetrahydrocannabinol and/or cannabidiol) and currently available preparations in the USA (nabilone and dronabinol). This has been expanded from a recent systematic review of cannabis use in several neurologic conditions to include case reports and case series and results of anonymous surveys of patients using cannabis outside of medical settings, with the original evidence classifications marked for those papers that followed research protocols. Despite overlap in some patients, dyskinesias will be treated separately from dystonia and chorea; benefit was not established beyond individual patients for these conditions. Tics, usually due to Tourettes, did respond to cannabis preparations. Side effects reported in the trials will be reviewed but those due to recreational use, including the dystonia that can be secondary to synthetic marijuana preparations, are outside the scope of this paper.

Surmounting retraining limits in musicians' dystonia by transcranial stimulation.

PubMed

Furuya, Shinichi; Nitsche, Michael A; Paulus, Walter; Altenmüller, Eckart

2014-05-01

Abnormal cortical excitability is evident in various movement disorders that compromise fine motor control. Here we tested whether skilled finger movements can be restored in musicians with focal hand dystonia through behavioral training assisted by transcranial direct current stimulation to the motor cortex of both hemispheres. The bilateral motor cortices of 20 pianists (10 with focal dystonia, 10 healthy controls) were electrically stimulated noninvasively during bimanual mirrored finger movements. We found improvement in the rhythmic accuracy of sequential finger movements with the affected hand during and after cathodal stimulation over the affected cortex and simultaneous anodal stimulation over the unaffected cortex. The improvement was retained 4 days after intervention. Neither a stimulation with the reversed montage of electrodes nor sham stimulation yielded any improvement. Furthermore, the amount of improvement was positively correlated with the severity of the symptoms. Bihemispheric stimulation without concurrent motor training failed to improve fine motor control, underlining the importance of combined retraining and stimulation for restoring the dystonic symptoms. For the healthy pianists, none of the stimulation protocols enhanced movement accuracy. These results suggest a therapeutic potential of behavioral training assisted by bihemispheric, noninvasive brain stimulation in restoring fine motor control in focal dystonia. © 2014 American Neurological Association.

Improvement of Isolated Myoclonus Phenotype in Myoclonus Dystonia after Pallidal Deep Brain Stimulation

PubMed Central

Ramdhani, Ritesh A.; Frucht, Steven J.; Behnegar, Anousheh; Kopell, Brian H.

2016-01-01

Background Myoclonus–dystonia is a condition that manifests predominantly as myoclonic jerks with focal dystonia. It is genetically heterogeneous with most mutations in the epsilon sarcoglycan gene (SGCE). In medically refractory cases, deep brain stimulation (DBS) has been shown to provide marked sustainable clinical improvement, especially in SGCE-positive patients. We present two patients with myoclonus–dystonia (one SGCE positive and the other SGCE negative) who have the isolated myoclonus phenotype and had DBS leads implanted in the bilateral globus pallidus internus (GPi). Methods We review their longitudinal Unified Myoclonus Rating Scale scores along with their DBS programming parameters and compare them with published cases in the literature. Results Both patients demonstrated complete amelioration of all aspects of myoclonus within 6–12 months after surgery. The patient with the SGCE-negative mutation responded just as well as the patient who was SGCE positive. High-frequency stimulation (130 Hz) with amplitudes greater than 2.5 V provided therapeutic benefit. Discussion This case series demonstrates that high frequency GPi-DBS is effective in treating isolated myoclonus in myoclonus–dystonia, regardless of the presence of SGCE mutation. PMID:26989574

Aristotle's illusion reveals interdigit functional somatosensory alterations in focal hand dystonia.

PubMed

Tinazzi, Michele; Marotta, Angela; Fasano, Alfonso; Bove, Francesco; Bentivoglio, Anna Rita; Squintani, Giovanna; Pozzer, Lara; Fiorio, Mirta

2013-03-01

In focal hand dystonia, the cortical somatosensory representation of the fingers is abnormal, with overlapping receptive fields and reduced interdigit separation. These abnormalities are associated with deficits in sensory perception, as previously demonstrated by applying tactile stimuli to one finger at a time. What is still unknown is whether the sensory deficits can be observed when tactile perception involves more than one finger. To address this issue, we applied 'Aristotle's illusion' to 15 patients with focal hand dystonia, 15 patients with dystonia not affecting the hand (blepharospasm and cervical dystonia) and 15 healthy control subjects. In this illusion, one object touching the contact point of two crossed fingertips is perceived as two objects by a blindfolded subject. The same object placed between two parallel fingertips is correctly perceived as one. The illusory doubling sensation is because of the fact that the contact point between the crossed fingers consists of non-adjacent and functionally unrelated skin regions, which usually send sensory signals to separate spots in the somatosensory cortex. In our study, participants were touched by one sphere between the second-third digits, the second-fourth digits and the fourth-fifth digits of both hands, either in crossed or in parallel position, and had to refer whether they felt one or two stimuli. The percentage of 'two stimuli' responses was an index of the illusory doubling. Both healthy control subjects and dystonic patients presented Aristotle's illusion when the fingers were crossed. However, patients with focal hand dystonia presented a significant reduction of the illusion when the sphere was placed between the crossed fourth and fifth digits of the affected hand. This reduction correlated with the severity of motor disease at the fingers. Similar findings were not observed in non-hand dystonia and control groups. The reduction of Aristotle's illusion in non-affected fingers and its

Speed-Accuracy Trade-Off in a Trajectory-Constrained Self-Feeding Task: A Quantitative Index of Unsuppressed Motor Noise in Children With Dystonia.

PubMed

Lunardini, Francesca; Bertucco, Matteo; Casellato, Claudia; Bhanpuri, Nasir; Pedrocchi, Alessandra; Sanger, Terence D

2015-10-01

Motor speed and accuracy are both affected in childhood dystonia. Thus, deriving a speed-accuracy function is an important metric for assessing motor impairments in dystonia. Previous work in dystonia studied the speed-accuracy trade-off during point-to-point tasks. To achieve a more relevant measurement of functional abilities in dystonia, the present study investigates upper-limb kinematics and electromyographic activity of 8 children with dystonia and 8 healthy children during a trajectory-constrained child-relevant task that emulates self-feeding with a spoon and requires continuous monitoring of accuracy. The speed-accuracy trade-off is examined by changing the spoon size to create different accuracy demands. Results demonstrate that the trajectory-constrained speed-accuracy relation is present in both groups, but it is altered in dystonia in terms of increased slope and offset toward longer movement times. Findings are consistent with the hypothesis of increased signal-dependent noise in dystonia, which may partially explain the slow and variable movements observed in dystonia. © The Author(s) 2015.

Contribution of TMS and rTMS in the Understanding of the Pathophysiology and in the Treatment of Dystonia.

PubMed

Lozeron, Pierre; Poujois, Aurélia; Richard, Alexandra; Masmoudi, Sana; Meppiel, Elodie; Woimant, France; Kubis, Nathalie

2016-01-01

Dystonias represent a heterogeneous group of movement disorders responsible for sustained muscle contraction, abnormal postures, and muscle twists. It can affect focal or segmental body parts or be generalized. Primary dystonia is the most common form of dystonia but it can also be secondary to metabolic or structural dysfunction, the consequence of a drug's side-effect or of genetic origin. The pathophysiology is still not elucidated. Based on lesion studies, dystonia has been regarded as a pure motor dysfunction of the basal ganglia loop. However, basal ganglia lesions do not consistently produce dystonia and lesions outside basal ganglia can lead to dystonia; mild sensory abnormalities have been reported in the dystonic limb and imaging studies have shown involvement of multiple other brain regions including the cerebellum and the cerebral motor, premotor and sensorimotor cortices. Transcranial magnetic stimulation (TMS) is a non-invasive technique of brain stimulation with a magnetic field applied over the cortex allowing investigation of cortical excitability. Hyperexcitability of contralateral motor cortex has been suggested to be the trigger of focal dystonia. High or low frequency repetitive TMS (rTMS) can induce excitatory or inhibitory lasting effects beyond the time of stimulation and protocols have been developed having either a positive or a negative effect on cortical excitability and associated with prevention of cell death, γ-aminobutyric acid (GABA) interneurons mediated inhibition and brain-derived neurotrophic factor modulation. rTMS studies as a therapeutic strategy of dystonia have been conducted to modulate the cerebral areas involved in the disease. Especially, when applied on the contralateral (pre)-motor cortex or supplementary motor area of brains of small cohorts of dystonic patients, rTMS has shown a beneficial transient clinical effect in association with restrained motor cortex excitability. TMS is currently a valuable tool to improve

Contribution of TMS and rTMS in the Understanding of the Pathophysiology and in the Treatment of Dystonia

PubMed Central

Lozeron, Pierre; Poujois, Aurélia; Richard, Alexandra; Masmoudi, Sana; Meppiel, Elodie; Woimant, France; Kubis, Nathalie

2016-01-01

Dystonias represent a heterogeneous group of movement disorders responsible for sustained muscle contraction, abnormal postures, and muscle twists. It can affect focal or segmental body parts or be generalized. Primary dystonia is the most common form of dystonia but it can also be secondary to metabolic or structural dysfunction, the consequence of a drug’s side-effect or of genetic origin. The pathophysiology is still not elucidated. Based on lesion studies, dystonia has been regarded as a pure motor dysfunction of the basal ganglia loop. However, basal ganglia lesions do not consistently produce dystonia and lesions outside basal ganglia can lead to dystonia; mild sensory abnormalities have been reported in the dystonic limb and imaging studies have shown involvement of multiple other brain regions including the cerebellum and the cerebral motor, premotor and sensorimotor cortices. Transcranial magnetic stimulation (TMS) is a non-invasive technique of brain stimulation with a magnetic field applied over the cortex allowing investigation of cortical excitability. Hyperexcitability of contralateral motor cortex has been suggested to be the trigger of focal dystonia. High or low frequency repetitive TMS (rTMS) can induce excitatory or inhibitory lasting effects beyond the time of stimulation and protocols have been developed having either a positive or a negative effect on cortical excitability and associated with prevention of cell death, γ-aminobutyric acid (GABA) interneurons mediated inhibition and brain-derived neurotrophic factor modulation. rTMS studies as a therapeutic strategy of dystonia have been conducted to modulate the cerebral areas involved in the disease. Especially, when applied on the contralateral (pre)-motor cortex or supplementary motor area of brains of small cohorts of dystonic patients, rTMS has shown a beneficial transient clinical effect in association with restrained motor cortex excitability. TMS is currently a valuable tool to

Critical current degradation behaviour of GdBCO CC tapes in pure torsion and combined tension-torsion modes

NASA Astrophysics Data System (ADS)

Gorospe, Alking; Bautista, Zhierwinjay; Shin, Hyung-Seop

2016-10-01

Coated conductor (CC) tapes utilized in high-current-density superconducting cables are commonly subjected to different loading modes, primarily torsion and tension especially in the case of twisted stacked-tape cable. Torsion load can occur due to twisting along the length or when winding the CC tapes around a former, while tension load can occur due to pre-tension when coiled and as a hoop stress when the coil is energized. In this study, electromechanical properties of single CC tapes under torsion load were investigated using a new test apparatus. The results could provide basic information for cable designers to fully characterize stacked cables. Copper-electroplated and brass-laminated CC tapes fabricated with different deposition techniques were subjected to pure torsion and combined tension-torsion loading. The critical current, I c degradation behaviours of CC tapes under torsional deformation were examined. Also, the effect of further external lamination on the I c degradation behaviour of the CC tapes under such loading conditions was investigated. In the case of the combined tension-torsion test, short samples were subjected to twist pitches of 200 mm and 100 mm. Critical parameters including reversible axial stress and strain in such twist pitch conditions were also investigated.

[The adnexal torsion in children].

PubMed

Khemakhem, Rachid; Barhoumi, Amel; Matoussi, Nadia; Hidouri, Saida; Ghorbel, Sofiane; Nouira, Faouzi; Jlidi, Said; Ben Becheur, Saida; Chaouachi, Béji

2008-05-01

Adnexal torsion is the most frequent gynaecological emergency in children. It requires an early diagnosis and an urgent surgical treatment. to study the clinical, paraclinical and therapeutic aspect of adnexal torsion in paediatric population. This is a retrospective review of nine girls with the diagnosis of ovarian torsion observed over a 7 years period (January 1999 to December 2005). The average age is 9 years (extreme 6 to 13 years). This pathology was located in 5 cases on the right side and in 3 cases on the left side; a case of bilateral torsion of poly-cystic ovary was encountered in a girl with down syndrome. Clinical presentation is made in all the cases by abdominal pains and vomiting. The disorders of the transit and the urinary signs are associated in 3 and 2 cases respectively, the clinical examination objectified a pelvic defense in all the cases and an abdominal mass in 2 cases. Pelvic ultra-sonography was made in 6 observations and give the diagnosis of torsion of the ovary in 4 cases, whereas it was doubtful in the 2 remaining cases when an ovarian mass was observed. In the 3 remaining cases, this examination was not performed since one the diagnosis of acute appendicitis was retained and the patient operated in emergency. All the children of our series were operated; in 1/3 of the cases we found a necrosis of the ovary. 4 cases out of 9 present a torsion on pathologic ovary (cyst, dysplasia), whereas in the 5 remaining cases, we noted a torsion on healthy ovary. 4 young girls have undergoes a annexectomy, of which one was bilateral. The evolution was favorable in all the cases. Adnexal torsion is a surgical emergency that need an early diagnosis and management to preserve ovarian function in girls and Doppler sonography every must be done every time there is a pelvic pain without fever in girls

Idiopathic ophthalmodynia and idiopathic rhinalgia: two topographic facial pain syndromes.

PubMed

Pareja, Juan A; Cuadrado, María L; Porta-Etessam, Jesús; Fernández-de-las-Peñas, César; Gili, Pablo; Caminero, Ana B; Cebrián, José L

2010-09-01

To describe 2 topographic facial pain conditions with the pain clearly localized in the eye (idiopathic ophthalmodynia) or in the nose (idiopathic rhinalgia), and to propose their distinction from persistent idiopathic facial pain. Persistent idiopathic facial pain, burning mouth syndrome, atypical odontalgia, and facial arthromyalgia are idiopathic facial pain syndromes that have been separated according to topographical criteria. Still, some other facial pain syndromes might have been veiled under the broad term of persistent idiopathic facial pain. Through a 10-year period we have studied all patients referred to our neurological clinic because of facial pain of unknown etiology that might deviate from all well-characterized facial pain syndromes. In a group of patients we have identified 2 consistent clinical pictures with pain precisely located either in the eye (n=11) or in the nose (n=7). Clinical features resembled those of other localized idiopathic facial syndromes, the key differences relying on the topographic distribution of the pain. Both idiopathic ophthalmodynia and idiopathic rhinalgia seem specific pain syndromes with a distinctive location, and may deserve a nosologic status just as other focal pain syndromes of the face. Whether all such focal syndromes are topographic variants of persistent idiopathic facial pain or independent disorders remains a controversial issue.

Lack of efficacy of levetiracetam in oromandibular and cranial dystonia.

PubMed

Park, J E; Srivanitchapoom, P; Maurer, C W; Mathew, P; Sackett, J; Paine, R; Ramos, V L; Hallett, M

2017-08-01

To determine the efficacy of levetiracetam in oromandibular or cranial dystonia. We recruited seven subjects with oromandibular or cranial dystonia. Five completed the study, median age was 71 years (range 42-79 years), median disease duration was 12 years (range 2-30 years). Participants were randomized to receive levetiracetam or placebo and were then crossed over. They titrated up to a total daily dose of 4000 mg or the maximum tolerated dose over 3 weeks and maintained that dose for another 3 weeks. The primary endpoint was the percent change of the eyes, mouth, speech, and swallowing Burke-Fahn-Marsden (BFM) subscores from baseline to weeks 6 and 14. Additional endpoints included the BFM subscore at weeks 3 and 11, and the global dystonia severity (GDS) subscore at weeks 3, 6, 11, and 14, as well as all adverse side effects. The mean percent increase in the BFM subscore (placebo: 31.25%, levetiracetam: 12.16%) was not significantly different between the two arms according to the Friedman analysis. The Wilcoxon signed-rank test showed that these percent changes were not significant, indicating that there was no statistical clinical worsening in either arm. The mean percent change of the BFM subscore at weeks 3 and 11 and the mean percent change of the GDS subscore at weeks 3, 6, 11, and 14 were not significantly different between the two arms, and the Wilcoxon signed-rank test did not show statistical significance. Levetiracetam does not appear to be efficacious in patients with oromandibular or cranial dystonia. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Epidural premotor cortical stimulation in primary focal dystonia: clinical and 18F-fluoro deoxyglucose positron emission tomography open study.

PubMed

Lalli, Stefania; Piacentini, Sylvie; Franzini, Angelo; Panzacchi, Andrea; Cerami, Chiara; Messina, Giuseppe; Ferré, Francesca; Perani, Daniela; Albanese, Alberto

2012-04-01

The aim of this study was to evaluate the efficacy and safety of epidural premotor stimulation in patients with primary focal dystonia. Seven patients were selected: 6 had cervical dystonia and 1 had right upper limb dystonia. In 2 patients, sustained muscle contractions led to a prevalently fixed head posture. Patients with cervical dystonia received a bilateral implant, whereas the patient with hand dystonia received a unilateral implant. Neurological and neuropsychological evaluations were performed before surgery (baseline), and 1, 3, 6, and 12 months afterward. The Burke-Fahn-Marsden scale (BFMS) and the Toronto Western spasmodic torticollis rating scale (TWSTRS) were administered at the same time points. Patients underwent resting (18)F-fluorodeoxyglucose (FDG) positron emission tomography (PET) scans, before and 12 months after surgery. No adverse events occurred. An overall improvement was observed on the BFMS and TWSTRS after surgery. Patients with prevalently fixed cervical dystonia had a reduced benefit. Presurgical neuroimaging revealed a significant bilateral metabolic increase in the sensorimotor areas, which was reduced after surgery. Copyright © 2012 Movement Disorder Society.

Cranial dystonia, blepharospasm and hemifacial spasm: clinical features and treatment, including the use of botulinum toxin.

PubMed Central

Kraft, S P; Lang, A E

1988-01-01

Blepharospasm, the most frequent feature of cranial dystonia, and hemifacial spasm are two involuntary movement disorders that affect facial muscles. The cause of blepharospasm and other forms of cranial dystonia is not known. Hemifacial spasm is usually due to compression of the seventh cranial nerve at its exit from the brain stem. Cranial dystonia may result in severe disability. Hemifacial spasm tends to be much less disabling but may cause considerable distress and embarrassment. Patients affected with these disorders are often mistakenly considered to have psychiatric problems. Although the two disorders are quite distinct pathophysiologically, therapy with botulinum toxin has proven very effective in both. We review the clinical features, proposed pathophysiologic features, differential diagnosis and treatment, including the use of botulinum toxin, of cranial dystonia and hemifacial spasm. Images Fig. 2 Fig. 3 PMID:3052771

All in the blink of an eye: new insight into cerebellar and brainstem function in DYT1 and DYT6 dystonia.

PubMed

Sadnicka, A; Teo, J T; Kojovic, M; Pareés, I; Saifee, T A; Kassavetis, P; Schwingenschuh, P; Katschnig-Winter, P; Stamelou, M; Mencacci, N E; Rothwell, J C; Edwards, M J; Bhatia, K P

2015-05-01

Traditionally dystonia has been considered a disorder of basal ganglia dysfunction. However, recent research has advocated a more complex neuroanatomical network. In particular, there is increasing interest in the pathophysiological role of the cerebellum. Patients with cervical and focal hand dystonia have impaired cerebellar associative learning using the paradigm eyeblink conditioning. This is perhaps the most direct evidence to date that the cerebellum is implicated in patients. Eleven patients with DYT1 dystonia and five patients with DYT6 dystonia were examined and rates of eyeblink conditioning were compared with age-matched controls. A marker of brainstem excitability, the blink reflex recovery, was also studied in the same groups. Patients with DYT1 and DYT6 dystonia have a normal ability to acquire conditioned responses. Blink reflex recovery was enhanced in DYT1 but this effect was not seen in DYT6. If the cerebellum is an important driver in DYT1 and DYT6 dystonia our data suggest that there is specific cerebellar dysfunction such that the circuits essential for conditioning function normally. Our data are contrary to observations in focal dystonia and suggest that the cerebellum may have a distinct role in different subsets of dystonia. Evidence of enhanced blink reflex recovery in all patients with dystonia was not found and recent studies calling for the blink recovery reflex to be used as a diagnostic test for dystonic tremor may require further corroboration. © 2014 The Author(s) European Journal of Neurology © 2014 EAN.

Torsional ultrasound mode versus combined torsional and conventional ultrasound mode phacoemulsification for eyes with hard cataract.

PubMed

Fakhry, Mohamed A; El Shazly, Malak I

2011-01-01

To compare torsional versus combined torsional and conventional ultrasound modes in hard cataract surgery regarding ultrasound energy and time and effect on corneal endothelium. Kasr El Aini hospital, Cairo University, and International Eye Hospital, Cairo, Egypt. Ninety-eight eyes of 63 patients were enrolled in this prospective comparative randomized masked clinical study. All eyes had nuclear cataracts of grades III and IV using the Lens Opacities Classification System III (LOCS III). Two groups were included, each having an equal number of eyes (49). The treatment for group A was combined torsional and conventional US mode phacoemulsification, and for group B torsional US mode phacoemulsification only. Pre- and post-operative assessments included best corrected visual acuity (BCVA), intraocular pressure (IOP), slit-lamp evaluation, and fundoscopic evaluation. Endothelial cell density (ECD) and central corneal thickness (CCT) were measured preoperatively, 1 day, 7 days, and 1 month postoperatively. All eyes were operated on using the Alcon Infiniti System (Alcon, Fort Worth, TX) with the quick chop technique. All eyes were implanted with AcrySof SA60AT (Alcon) intraocular lens (IOL). The main phaco outcome parameters included the mean ultrasound time (UST), the mean cumulative dissipated energy (CDE), and the percent of average torsional amplitude in position 3 (%TUSiP3). Improvement in BCVA was statistically significant in both groups (P < 0.001). Comparing UST and CDE for both groups revealed results favoring the pure torsional group (P = 0.002 and P < 0.001 for UST; P = 0.058 and P = 0.009 for CDE). As for %TUSiP3, readings were higher for the pure torsional group (P = 0.03 and P = 0.01). All changes of CCT, and ECD over time were found statistically significant using one-way ANOVA testing (P < 0.001). Both modes are safe in hard cataract surgery, however the pure torsional mode showed less US energy used.

Tibiotalar torsion: bioengineering paradigm.

PubMed

Michele, A A; Nielsen, P M

1976-10-01

1. Medial tibiotalar torsion is the most common disorder peculiar to mankind. 2. The pathogonomic findings are (a) an axial medially rotated and adducted distal third of the shaft of the tibia, (b) the plafond of the tibia with its mortise containing the "track-bound" talus, which is deflected strongly toward the tibial side, (c) an exaggerated midtarsal equinus, (d) ostensible restriction of dorsiflexion of the hindfoot against the tibia, (e) mild separation of the distal tibiofibular articulation, and (f) forward displacement of the gravitational axis to the naviculocunei-form joint. 3. Faulty leg crossing in utero resulting in an abnormal pelvofemoral-tibial design is discussed and its important consequences in the vulnerable 40 per cent of the population are emphasized. 4. The kinesiomechanics of the leg, ankle and foot is reviewed. 5. The radiographic parameters of medial tibiotalar torsion are presented, as well as the multiple facets of the clinical examination. 6. Methods of treatment depending on age and severity of the disorder are recommended. Surgery, detortional casts, and corrective footwear are discussed. Shoes presently available are inadequate for tibiotalar torsion and therefore engineering principles must be applied in the design and construction of all footwear, including sneakers and sportswear. This can be done only if the pathological biomechanics of this group of disorders is recognized. Biplane proximal tibial osteotomy is recommended in refractory cases, especially when tibiotalar torsion is demonstrated. 7. After 30 years of experience, the author finds that results with these patients have been uniformly good to excellent, depending on age and mode of treatment. 8. In medial tibiotalar torsion, the consequent adaptive changes are readily observed, but rarely are they recognized as the inevitable sequelae of medial tibiotalar torsion. 9. Adaptive compensating disorders are identified and their mechanism described. 10. The management of

Abnormal experimentally- and behaviorally-induced LTP-like plasticity in focal hand dystonia.

PubMed

Belvisi, Daniele; Suppa, Antonio; Marsili, Luca; Di Stasio, Flavio; Parvez, Ahmad Khandker; Agostino, Rocco; Fabbrini, Giovanni; Berardelli, Alfredo

2013-02-01

Idiopathic focal hand dystonia (FHD) arises from abnormal plasticity in the primary motor cortex (M1) possibly reflecting abnormal sensori-motor integration processes. In this transcranial magnetic stimulation (TMS) study in FHD, we evaluated changes in motor evoked potentials (MEPs) after intermittent theta burst stimulation (iTBS) and paired associative stimulation (PAS), techniques that elicit different forms of experimentally-induced long-term potentiation (LTP)-like plasticity in M1. We also examined behaviorally-induced LTP-like plasticity as reflected by early motor learning of a simple motor task. We studied 14 patients with FHD and 14 healthy subjects. MEPs were recorded before and after iTBS and PAS at the 25 ms interstimulus interval (PAS(25)) in separate sessions. Subjects did a simple motor task entailing repetitive index finger abductions. To measure early motor learning we tested practice-related improvement in peak velocity and peak acceleration. In FHD patients iTBS failed to elicit the expected MEP changes and PAS(25) induced abnormally increased MEPs in target and non-target muscles. In the experiment testing early motor learning, patients lacked the expected practice-related changes in kinematic variables. In FHD, the degree of early motor learning correlated with patients' clinical features. We conclude that experimentally-induced (iTBS and PAS) and behaviorally-induced LTP-like plasticity are both altered in FHD. Copyright © 2012 Elsevier Inc. All rights reserved.

Inverse problems for torsional modes.

USGS Publications Warehouse

Willis, C.

1984-01-01

Considers a spherically symmetric, non-rotating Earth consisting of an isotropic, perfect elastic material where the density and the S-wave velocity may have one or two discontinuities in the upper mantle. Shows that given the velocity throughout the mantle and the crust and given the density in the lower mantle, then the freqencies of the torsional oscillations of one angular order (one torsional spectrum), determine the density in the upper mantle and in the crust uniquely. If the velocity is known only in the lower mantle, then the frequencies of the torsional oscillations of two angular orders uniquely determine both the density and the velocity in the upper mantle and in the crust. In particular, the position and size of the discontinuities in the density and velocity are uniquely determined by two torsional spectra.-Author

Risk factors for spinal cord lesions in dystonic cerebral palsy and generalised dystonia.

PubMed

Guettard, Emilie; Ricard, Damien; Roze, Emmanuel; Elbaz, Alexis; Anheim, Mathieu; Thobois, Stéphane; Lepeintre, Jean-Francois; Galanaud, Damien; Mazel, Christian; Vidailhet, Marie

2012-02-01

Cervical myelopathy (CM) in patients with cerebral palsy (CP) is underdiagnosed as symptoms of spinal cord lesions, being similar to those due to dystonia, may be overlooked or identified late. The aim of this study is to identify the risk factors and clinical characteristics of CM in patients with generalised dystonia, including dystonic CP. The authors conducted a case-control study to identify early clinical signs of CM in consecutive patients with generalised dystonia. The authors compared the clinical characteristics and symptoms of those who developed CM (cases) and those who did not (controls). The same clinical information on possible neurological manifestations of CM was collected for cases and controls at the date of the last visit. Out of 54 patients, 17 (31%) developed symptomatic CM during the study period. In all cases, CM occurred after the age of 36 years. 81% of cases and 35% of controls had a Burke-Fahn-Marsden movement subscore for the neck >4. Age (OR per 10 years=2.3, 95% CI 1.4 to 4.2, p=0.006) and severity of neck dystonia (OR=7.7, 95% CI 1.7 to 49.6, p=0.005) were the main risk factors of CM. Gait disorders and falls, wasting of hand muscles and bladder disorders were the best clinical clues of CM. As severity of cervical dystonia and age are the major risk factors for spinal cord lesions, dystonic patients, including patients with dystonic CP, should be screened for CM from the third decade of life onwards. Early recognition of CM is crucial for functional prognosis and impact on autonomy.

Neural correlates of abnormal sensory discrimination in laryngeal dystonia.

PubMed

Termsarasab, Pichet; Ramdhani, Ritesh A; Battistella, Giovanni; Rubien-Thomas, Estee; Choy, Melissa; Farwell, Ian M; Velickovic, Miodrag; Blitzer, Andrew; Frucht, Steven J; Reilly, Richard B; Hutchinson, Michael; Ozelius, Laurie J; Simonyan, Kristina

2016-01-01

Aberrant sensory processing plays a fundamental role in the pathophysiology of dystonia; however, its underpinning neural mechanisms in relation to dystonia phenotype and genotype remain unclear. We examined temporal and spatial discrimination thresholds in patients with isolated laryngeal form of dystonia (LD), who exhibited different clinical phenotypes (adductor vs. abductor forms) and potentially different genotypes (sporadic vs. familial forms). We correlated our behavioral findings with the brain gray matter volume and functional activity during resting and symptomatic speech production. We found that temporal but not spatial discrimination was significantly altered across all forms of LD, with higher frequency of abnormalities seen in familial than sporadic patients. Common neural correlates of abnormal temporal discrimination across all forms were found with structural and functional changes in the middle frontal and primary somatosensory cortices. In addition, patients with familial LD had greater cerebellar involvement in processing of altered temporal discrimination, whereas sporadic LD patients had greater recruitment of the putamen and sensorimotor cortex. Based on the clinical phenotype, adductor form-specific correlations between abnormal discrimination and brain changes were found in the frontal cortex, whereas abductor form-specific correlations were observed in the cerebellum and putamen. Our behavioral and neuroimaging findings outline the relationship of abnormal sensory discrimination with the phenotype and genotype of isolated LD, suggesting the presence of potentially divergent pathophysiological pathways underlying different manifestations of this disorder.

Interventional studies in childhood dystonia do not address the concerns of children and their carers.

PubMed

Lumsden, Daniel E; Gimeno, Hortensia; Tustin, Kylee; Kaminska, Margaret; Lin, Jean-Pierre

2015-05-01

This study aimed to determine the main concerns/priorities of the parents and carers of children with dystonia referred to our service and whether medical interventional studies addressed these concerns. Records of children assessed by our service from June 2005-December 2012 were reviewed and expressed parental/carer concerns at initial assessment categorized using the International Classification of Functioning (ICF) Framework. Medline, CINAHL and Embase databases were searched for outcome measures of medical and surgical interventional studies in childhood dystonia. Data was collected from 273 children and young people with dystonia. The most commonly expressed concerns were: pain (104/273, 38.1%); difficulties in delivering activities of daily-living (66/273, 24.2%), difficulties with hand-use (59/273, 21.6%) and seating (41/273, 15.0%). Literature review identified 70 interventional studies, 46 neurosurgical and 24 pharmacological. The majority of neurosurgical studies (34/46) used impairment scales to measure change, with pharmacological studies typically reporting more subjective changes in motor symptoms. Only a minority of studies used assessments or scales capable of objectively addressing the concerns reported by our cohort. Existing interventional studies in childhood dystonia poorly address the main concerns of children with dystonia and their carers, limiting the conclusions which may be drawn as to true impact of these interventions in childhood. Copyright © 2015 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

Optically probing torsional superelasticity in spider silks

DOE Office of Scientific and Technical Information (OSTI.GOV)

Kumar, Bhupesh; Thakur, Ashish; Panda, Biswajit

2013-11-11

We investigate torsion mechanics of various spider silks using a sensitive optical technique. We find that spider silks are torsionally superelastic in that they can reversibly withstand great torsion strains of over 10{sup 2−3} rotations per cm before failure. Among various silks from a spider, we find the failure twist-strain is greatest in the sticky capture silk followed by dragline and egg-case silk. Our in situ laser-diffraction measurements reveal that torsional strains on the silks induce a nano-scale transverse compression in its diameter that is linear and reversible. These unique torsional properties of the silks could find applications in silk-basedmore » materials and devices.« less

Exhaustive Analysis of BH4 and Dopamine Biosynthesis Genes in Patients with Dopa-Responsive Dystonia

ERIC Educational Resources Information Center

Clot, Fabienne; Grabli, David; Cazeneuve, Cecile; Roze, Emmanuel; Castelnau, Pierre; Chabrol, Brigitte; Landrieu, Pierre; Nguyen, Karine; Ponsot, Gerard; Abada, Myriem; Doummar, Diane; Damier, Philippe; Gil, Roger; Thobois, Stephane; Ward, Alana J.; Hutchinson, Michael; Toutain, Annick; Picard, Fabienne; Camuzat, Agnes; Fedirko, Estelle; San, Chankannira; Bouteiller, Delphine; LeGuern, Eric; Durr, Alexandra; Vidailhet, Marie; Brice, Alexis

2009-01-01

Dopa-responsive dystonia is a childhood-onset dystonic disorder, characterized by a dramatic response to low dose of L-Dopa. Dopa-responsive dystonia is mostly caused by autosomal dominant mutations in the "GCH1" gene (GTP cyclohydrolase1) and more rarely by autosomal recessive mutations in the "TH" (tyrosine hydroxylase) or "SPR" (sepiapterin…

Investigation of the torsional stiffness of flexible disc coupling

NASA Astrophysics Data System (ADS)

Buryy, A.; Simonovsky, V.; Obolonik, V.

2017-08-01

Calculation of flexible coupling torsional stiffness is required when analyzing the torsional vibrations of the reciprocating machinery train. While having the lowest torsional stiffness of all the elements of the train, flexible coupling has a significant influence on the natural frequencies of torsional vibration. However, considering structural complexity of coupling, precise definition of its torsional stiffness is quite a difficult task. The paper presents a method for calculating the torsional stiffness of flexible disc coupling based on the study of its finite element model response under the action of torque. The analysis of the basic parameters that quantitatively and qualitatively affect the coupling torsional stiffness has been also provided. The results of the calculation as well as model adequacy, sufficient for practical application, have been confirmed at the experimental measurement of flexible disc coupling torsional stiffness. The obtained elastic characteristics (dependences of applied torque and torsional stiffness versus twist angle) are nonlinear in the initial stage of loading. This feature should be taken into account when creating reliable mathematical models of torsional vibrations of reciprocating machinery trains containing flexible disc couplings.

CDIP-58 can measure the impact of botulinum toxin treatment in cervical dystonia.

PubMed

Cano, S J; Hobart, J C; Edwards, M; Fitzpatrick, R; Bhatia, K; Thompson, A J; Warner, T T

2006-12-26

We compared the responsiveness of the Cervical Dystonia Impact Profile (CDIP-58), Medical Outcome Study Short Form-Health Survey (SF-36), Functional Disability Questionnaire (FDQ), and Pain and Activities of Daily Living subscales of the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS) in participants with cervical dystonia treated with botulinum toxin A. Subscales of CDIP-58 were more sensitive in detecting statistical and clinical change than comparable subscales of the SF-36, FDQ, and TWSTRS.

Alcohol responsiveness in laryngeal dystonia: A survey study

PubMed Central

Kirke, Diana N.; Frucht, Steven J.; Simonyan, Kristina

2015-01-01

Laryngeal dystonia (LD) is a task-specific focal dystonia of unknown pathophysiology affecting speech production. We examined the demographics of anecdotally reported alcohol use and its effects on LD symptoms using an online survey based on Research Electronic Data Capture (REDCap™) and National Spasmodic Dysphonia Association’s patient registry. From 641 participants, 531 were selected for data analysis, and 110 were excluded because of unconfirmed diagnosis. A total of 406 patients (76.5%) had LD and 125 (23.5%) had LD and voice tremor (LD/VT). The consumption of alcohol was reported by 374 LD (92.1%) and 109 LD/VT (87.2%) patients. Improvement of voice symptoms after alcohol ingestion was noted by 227 LD (55.9% of all patients) and 73 LD/VT (58.4%), which paralleled the improvement observed by patient’s family and/or friends in 214 LD (57.2%) and 69 LD/VT (63.3%) patients. The benefits lasted 1–3 hours in both groups with the maximum effect after 2 drinks in LD patients (p = 0.002), whereas LD/VT symptoms improved independent of the consumed amount (p = 0.48). Our data suggest that isolated dystonic symptoms, such as in LD, are responsive to alcohol intake and this responsiveness is not attributed to the presence of VT, which is known to have significant benefits from alcohol ingestion. Alcohol may modulate the pathophysiological mechanisms underlying abnormal neurotransmission of γ-aminobutyric acid (GABA) in dystonia and as such provide new avenues for novel therapeutic options in these patients. PMID:25929664

Torsional Optomechanics of a Levitated Nonspherical Nanoparticle

NASA Astrophysics Data System (ADS)

Hoang, Thai M.; Ma, Yue; Ahn, Jonghoon; Bang, Jaehoon; Robicheaux, F.; Yin, Zhang-Qi; Li, Tongcang

2016-09-01

An optically levitated nanoparticle in vacuum is a paradigm optomechanical system for sensing and studying macroscopic quantum mechanics. While its center-of-mass motion has been investigated intensively, its torsional vibration has only been studied theoretically in limited cases. Here we report the first experimental observation of the torsional vibration of an optically levitated nonspherical nanoparticle in vacuum. We achieve this by utilizing the coupling between the spin angular momentum of photons and the torsional vibration of a nonspherical nanoparticle whose polarizability is a tensor. The torsional vibration frequency can be 1 order of magnitude higher than its center-of-mass motion frequency, which is promising for ground state cooling. We propose a simple yet novel scheme to achieve ground state cooling of its torsional vibration with a linearly polarized Gaussian cavity mode. A levitated nonspherical nanoparticle in vacuum will also be an ultrasensitive nanoscale torsion balance with a torque detection sensitivity on the order of 10-29 N m /√{Hz } under realistic conditions.

Methamphetamine use can mimic testicular torsion.

PubMed

Doherty, Michael H; Gerscovich, Eugenio O; Corwin, Michael T; Wilkendorf, Stephen R

2013-09-01

We report the case of a patient presenting with the classic clinical appearance of testicular torsion. Ultrasound showed testicular ischemia supporting the clinical diagnosis, but the lack of visualization of spermatic cord torsion was of concern. An attempt of clinical detorsion was considered unsuccessful and the patient was explored. No torsion was found. On postoperative review of the patient's medical history, we found methamphetamine use, with a positive urine test at the time of his emergent consultation for the scrotal pain episode. The use of amphetamines has been previously reported as the cause of ischemia of multiple organs, but we could not find previous reports of involvement of the testis mimicking torsion. Copyright © 2013 Wiley Periodicals, Inc.

Torsional ultrasound mode versus combined torsional and conventional ultrasound mode phacoemulsification for eyes with hard cataract

PubMed Central

Fakhry, Mohamed A; Shazly, Malak I El

2011-01-01

Purpose To compare torsional versus combined torsional and conventional ultrasound modes in hard cataract surgery regarding ultrasound energy and time and effect on corneal endothelium. Settings Kasr El Aini hospital, Cairo University, and International Eye Hospital, Cairo, Egypt. Methodology Ninety-eight eyes of 63 patients were enrolled in this prospective comparative randomized masked clinical study. All eyes had nuclear cataracts of grades III and IV using the Lens Opacities Classification System III (LOCS III). Two groups were included, each having an equal number of eyes (49). The treatment for group A was combined torsional and conventional US mode phacoemulsification, and for group B torsional US mode phacoemulsification only. Pre- and post-operative assessments included best corrected visual acuity (BCVA), intraocular pressure (IOP), slit-lamp evaluation, and fundoscopic evaluation. Endothelial cell density (ECD) and central corneal thickness (CCT) were measured preoperatively, 1 day, 7 days, and 1 month postoperatively. All eyes were operated on using the Alcon Infiniti System (Alcon, Fort Worth, TX) with the quick chop technique. All eyes were implanted with AcrySof SA60AT (Alcon) intraocular lens (IOL). The main phaco outcome parameters included the mean ultrasound time (UST), the mean cumulative dissipated energy (CDE), and the percent of average torsional amplitude in position 3 (%TUSiP3). Results Improvement in BCVA was statistically significant in both groups (P < 0.001). Comparing UST and CDE for both groups revealed results favoring the pure torsional group (P = 0.002 and P < 0.001 for UST; P = 0.058 and P = 0.009 for CDE). As for %TUSiP3, readings were higher for the pure torsional group (P = 0.03 and P = 0.01). All changes of CCT, and ECD over time were found statistically significant using one-way ANOVA testing (P < 0.001). Conclusion Both modes are safe in hard cataract surgery, however the pure torsional mode showed less US energy used. PMID

External torsion in a proximal tibia and internal torsion in a distal tibia occur independently in varus osteoarthritic knees compared to healthy knees.

PubMed

Mochizuki, Tomoharu; Tanifuji, Osamu; Koga, Yoshio; Hata, Ryosuke; Mori, Takahiro; Nishino, Katsutoshi; Sato, Takashi; Kobayashi, Koichi; Omori, Go; Sakamoto, Makoto; Tanabe, Yuji; Endo, Naoto

2017-05-01

The relative torsional angle of the distal tibia is dependent on a deformity of the proximal tibia, and it is a commonly used torsional parameter to describe deformities of the tibia; however, this parameter cannot show the location and direction of the torsional deformity in the entire tibia. This study aimed to identify the detailed deformity in the entire tibia via a coordinate system based on the diaphysis of the tibia by comparing varus osteoarthritic knees to healthy knees. In total, 61 limbs in 58 healthy subjects (age: 54 ± 18 years) and 55 limbs in 50 varus osteoarthritis (OA) subjects (age: 72 ± 7 years) were evaluated. The original coordinate system based on anatomic points only from the tibial diaphysis was established. The evaluation parameters were 1) the relative torsion in the distal tibia to the proximal tibia, 2) the proximal tibial torsion relative to the tibial diaphysis, and 3) the distal tibial torsion relative to the tibial diaphysis. The relative torsion in the distal tibia to the proximal tibia showed external torsion in both groups, while the external torsion was lower in the OA group than in the healthy group (p < 0.0001). The proximal tibial torsion relative to the tibial diaphysis had a higher external torsion in the OA group (p = 0.012), and the distal tibial torsion relative to the tibial diaphysis had a higher internal torsion in the OA group (p = 0.004) in comparison to the healthy group. The reverse torsional deformity, showing a higher external torsion in the proximal tibia and a higher internal torsion in the distal tibia, occurred independently in the OA group in comparison to the healthy group. Clinically, this finding may prove to be a pathogenic factor in varus osteoarthritic knees. Level Ⅲ. Copyright © 2017 The Japanese Orthopaedic Association. Published by Elsevier B.V. All rights reserved.

Torsion balances with fibres of zero length

NASA Astrophysics Data System (ADS)

Speake, Clive C.; Collins, Christopher J.

2018-04-01

Torsion balances have good immunity to tilt and low rotational stiffness. However precise control of the position of the suspended torsion 'bob' is difficult in the presence of ground vibrations and tilt and this is a limiting factor in applications where Casimir forces or putative non-Newtonian short-range forces are being measured. We describe how the desirable characteristics of torsion balances can be reproduced in a rigid body that is suspended using applied forces rather than a torsion fibre. The suspension system can then provide a more precise control of the degrees of freedom of the suspended body. We apply these ideas to a superconducting levitated torsion balance, developed by the authors, and a generic electrostatic suspension. We present results of preliminary experiments that provide support for our analyses.

Association of Torsion With Testicular Cancer: A Retrospective Study.

PubMed

Uguz, Sami; Yilmaz, Sercan; Guragac, Ali; Topuz, Bahadır; Aydur, Emin

2016-02-01

Testicular torsion is a medical emergency that usually requires surgical exploration. However, testicular malignancy has been anecdotally reported with the association of torsion in surgical specimens, and the published data remain scant on the association of torsion with testicular tumors. By retrospective medical record review, we identified 32 patients who had been diagnosed with testicular torsion, 20 of whom had undergone orchiectomy. Of these 20 patients, 2 were diagnosed with a malignancy. Our study, the largest case series to date, has shown an association between testicular torsion and testicular cancer of 6.4%. Testicular torsion is a medical emergency that usually requires surgical exploration. However, testicular malignancy has been anecdotally reported in association with torsion in surgical specimens. However, the published data remain scant on the association between torsion and the presence of testicular tumors. The present retrospective study explored the association between torsion and testicular cancer in patients with testicular torsion undergoing orchiectomy during scrotal exploration. A medical record review was performed of patients who had had a diagnosis of testicular torsion from January 2003 to February 2015. The clinicopathologic characteristics of the patients were recorded. A total of 32 patients were identified. Their mean age was 21.1 years (range, 7-39 years). All the patients had unilateral testicular torsion, which affected the left side in 17 and the right side in 15. Manual detorsion was successful in 6 patients, and 26 patients underwent emergency surgery with testicular detorsion (6 fixation surgery and 20 orchiectomy). The type of incision was scrotal in 6, inguinal in 10, and unspecified in 4. Pathologic examination of the orchiectomy specimens showed malignancy in 2 cases (seminoma and malign mixed germ cell tumor). To the best of our knowledge, the present single-center case series is the largest case series to date of

Acute focal dystonia induced by a tricyclic antidepressant in a patient with Wilson disease: a case report.

PubMed

Litwin, T; Chabik, G; Członkowska, A

2013-01-01

The authors present the case of a 19-year-old patient with Wilson disease (WD) who developed symptoms of acute focal dystonia of the left hand (a 'starfish' hand presentation) shortly after treatment with the tricyclic antidepressant clomipramine. The diagnosis of WD was made 8 months earlier based on abnormal copper metabolism parameters and was confirmed by genetic testing. Initially, the patient presented with akathisia, sialorrhea, oromandibular dystonia (occasionally grimacing) and slight dysarthria. The patient's symptoms diminished after treatment with d-penicillamine was initiated. No further deterioration was observed after copper-chelating therapy was started. The authors diagnosed acute focal dystonia induced by clomipramine. Botulinum toxin and intensive rehabilitation was initiated; complete regression of hand dystonia was observed. Based on the case, the authors suggest that care should be exercised with regard to starting medications that could potentially impact the extrapyramidal system in WD patients.

Reduced striatal D2 receptor binding in myoclonus-dystonia.

PubMed

Beukers, R J; Booij, J; Weisscher, N; Zijlstra, F; van Amelsvoort, T A M J; Tijssen, M A J

2009-02-01

To study striatal dopamine D(2) receptor availability in DYT11 mutation carriers of the autosomal dominantly inherited disorder myoclonus-dystonia (M-D). Fifteen DYT11 mutation carriers (11 clinically affected) and 15 age- and sex-matched controls were studied using (123)I-IBZM SPECT. Specific striatal binding ratios were calculated using standard templates for striatum and occipital areas. Multivariate analysis with corrections for ageing and smoking showed significantly lower specific striatal to occipital IBZM uptake ratios (SORs) both in the left and right striatum in clinically affected patients and also in all DYT11 mutation carriers compared to control subjects. Our findings are consistent with the theory of reduced dopamine D(2) receptor (D2R) availability in dystonia, although the possibility of increased endogenous dopamine, and consequently, competitive D2R occupancy cannot be ruled out.

[Paroxysmal stereotypy-tic-dystonia syndrome].

PubMed

Cabrera-López, J C; Martí-Herrero, M; Fernández-Burriel, M; Toledo-Bravo de Laguna, L; Domínguez-Ramírez, S; Fortea-Sevilla, S

We report the cases of four males from four different families, who presented paroxysmal episodes from the 1st 2nd year. These episodes were characterised by asymmetrical bilateral dystonia of the upper limbs, predominantly in both hands, and were associated with orofacial dyskinesias, stereotipies (jumping, arm flapping, etc.), facial tics and, occasionally, phonic tics. Consciousness is not affected in any of the cases. These movements are triggered in situations where the patient is relaxed or excited. They occur daily and last from a few seconds to 30 minutes. Between the bouts, they remain asymptomatic. Family cases suggest it is inherited by autosomal dominant transmission, perhaps linked to the X chromosome; in addition, two cases are sporadic. In the only adult, the movements progress to a series of rhythmic bilateral dystonic myoclonias and facial tics dyskinesias. All the studies carried out, EEG, hemogram, biochemical analysis, neuroimaging, copper and ceruloplasmin levels, were normal. 1. We report a non epileptic paroxysmal disorder originating in the extrapyramidal tracts with its own characteristics, with onset during early childhood, which is associated with stereotipies, tics and dystonia; 2. It occurs predominantly in males; 3. It is inherited by autosomal dominant transmission, or perhaps sex linked autosomal dominant inheritance, and there are also sporadic cases; 4. The range of clinical features is very wide and includes cases in which there are few symptoms to others where the extent and gravity of the disorder is very significant.

Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases

PubMed Central

LeDoux, Mark S.; Xiao, Jianfeng; Rudzińska, Monika; Bastian, Robert W.; Wszolek, Zbigniew K.; Van Gerpen, Jay A.; Puschmann, Andreas; Momčilović, Dragana; Vemula, Satya R.; Zhao, Yu

2012-01-01

An extensive variety of THAP1 sequence variants have been associated with focal, segmental and generalized dystonia with age of onset ranging from 3 to over 60 years. In previous work, we screened 1,114 subjects with mainly adult-onset primary dystonia (Neurology 2010;74:229-238) and identified 6 missense mutations in THAP1. For this report, we screened 750 additional subjects for mutations in coding regions of THAP1 and interrogated all published descriptions of THAP1 phenotypes (gender, age of onset, anatomical distribution of dystonia, family history and site of onset) to explore the possibility of THAP1 genotype-phenotype correlations and facilitate a deeper understanding of THAP1 pathobiology. We identified 5 additional missense mutations in THAP1 (p.A7D, p.K16E, p.S21C, p.R29Q, and p.I80V). Three of these variants are associated with appendicular tremors, which were an isolated or presenting sign in some of the affected subjects. Abductor laryngeal dystonia and mild blepharospasm can be manifestations of THAP1 mutations in some individuals. Overall, mean age of onset for THAP1 dystonia is 16.8 years and the most common sites of onset are the arm and neck, and the most frequently affected anatomical site is the neck. In addition, over half of patients exhibit either cranial or laryngeal involvement. Protein truncating mutations and missense mutations within the THAP domain of THAP1 tend to manifest at an earlier age and exhibit more extensive anatomical distributions than mutations localized to other regions of THAP1. PMID:22377579

Some Properties and Uses of Torsional Overlap Integrals

NASA Astrophysics Data System (ADS)

Mekhtiev, Mirza A.; Hougen, Jon T.

1998-01-01

The first diagonalization step in a rho-axis-method treatment of methyl-top internal rotation problems involves finding eigenvalues and eigenvectors of a torsional Hamiltonian, which depends on the rotational projection quantum numberKas a parameter. Traditionally the torsional quantum numbervt= 0, 1, 2···is assigned to eigenfunctions of givenKin order of increasing energy. In this paper we propose an alternative labeling scheme, using the torsional quantum numbervT, which is based on properties of theK-dependent torsional overlap integrals . In particular, the quantum numbervTis assigned in such a way that torsional wavefunctions |vT,K> vary as slowly as possible whenKchanges by unity. Roughly speaking,vT=vtfor torsional levels below the barrier, whereasvTis more closely related to the free-rotor quantum number for levels above the barrier. Because of the latter fact, we believevTwill in general be a physically more meaningful torsional quantum number for levels above the barrier. The usefulness of overlap integrals for qualitative prediction of torsion-rotation band intensities and for rationalizing the magnitudes of perturbations involving some excitation of the small-amplitude vibrations in an internal rotor problem is also discussed.

Adaptation of feedforward movement control is abnormal in patients with cervical dystonia and tremor.

PubMed

Avanzino, Laura; Ravaschio, Andrea; Lagravinese, Giovanna; Bonassi, Gaia; Abbruzzese, Giovanni; Pelosin, Elisa

2018-01-01

It is under debate whether the cerebellum plays a role in dystonia pathophysiology and in the expression of clinical phenotypes. We investigated a typical cerebellar function (anticipatory movement control) in patients with cervical dystonia (CD) with and without tremor. Twenty patients with CD, with and without tremor, and 17 healthy controls were required to catch balls of different load: 15 trials with a light ball, 25 trials with a heavy ball (adaptation) and 15 trials with a light ball (post-adaptation). Arm movements were recorded using a motion capture system. We evaluated: (i) the anticipatory adjustment (just before the impact); (ii) the extent and rate of the adaptation (at the impact) and (iii) the aftereffect in the post-adaptation phase. The anticipatory adjustment was reduced during adaptation in CD patients with tremor respect to CD patients without tremor and controls. The extent and rate of adaptation and the aftereffect in the post-adaptation phase were smaller in CD with tremor than in controls and CD without tremor. Patients with cervical dystonia and tremor display an abnormal predictive movement control. Our findings point to a possible role of cerebellum in the expression of a clinical phenotype in dystonia. Copyright © 2017 International Federation of Clinical Neurophysiology. Published by Elsevier B.V. All rights reserved.

Reaching and writing movements: sensitive and reliable tools to measure genetic dystonia in children.

PubMed

Casellato, Claudia; Zorzi, Giovanna; Pedrocchi, Alessandra; Ferrigno, Giancarlo; Nardocci, Nardo

2011-07-01

The aim of this study was to provide a quantitative assessment of pure dystonia in a group of children. Kinematic and muscular characteristics of unconstrained movements of the upper limb, reaching and writing, were investigated. During reaching, the distinguishing factors of dystonic movement were reduced velocity, loss of muscular activation focalization, and impairment of rest-movement modulation. Muscular parameters were able to linearly discriminate the different levels of severity. These results support the hypothesis that basal ganglia dysfunction is responsible for compromising the motor activity focusing. The handwriting movement revealed that the kinematic coordination was altered depending on dystonia severity scores. The 2 protocols revealed themselves feasible and sensitive for detecting even local and subclinical signs. Hence, this work provides a contribution toward a reliable assessment of pure dystonia, crucial for clinical characterization of patients and evaluation of the different treatment options.

Idiopathic anaphylaxis.

PubMed

Fenny, Nana; Grammer, Leslie C

2015-05-01

Idiopathic anaphylaxis is a diagnosis of exclusion after other causes have been thoroughly evaluated and excluded. The pathogenesis of idiopathic anaphylaxis remains uncertain, although increased numbers of activated lymphocytes and circulating histamine-releasing factors have been implicated. Signs and symptoms of patients diagnosed with idiopathic anaphylaxis are indistinguishable from the manifestations of other forms of anaphylaxis. Treatment regimens are implemented based on the frequency and severity of patient symptoms and generally include the use of epinephrine autoinjectors, antihistamines, and steroids. The prognosis of idiopathic anaphylaxis is generally favorable with well-established treatment regimens and effective patient education. Copyright © 2015 Elsevier Inc. All rights reserved.

Prospective Study Evaluating IncobotulinumtoxinA for Cervical Dystonia or Blepharospasm: Interim Results from the First 145 Subjects with Cervical Dystonia.

PubMed

Fernandez, Hubert H; Pagan, Fernando; Danisi, Fabio; Greeley, David; Jankovic, Joseph; Verma, Amit; Sethi, Kapil; Pappert, Eric J

2013-01-01

We report the interim results from XCiDaBLE, a large, prospective, observational "naturalistic" study evaluating Xeomin® (incobotulinumtoxinA) for Cervical Dystonia or BLEpharospasm in the United States. Subjects (≥ 18 years old) with cervical dystonia (CD) are followed for two treatment cycles and monitored via Interactive Voice/Web Response. The subject's physician must have chosen to treat with incobotulinumtoxinA prior to and independent of enrollment in this study. Subject-reported scales include the Subject Global Impression-Severity and Improvement and Cervical Dystonia Impact Profile (CDIP-58), and Work Productivity and Quality of Life (QoL) are assessed by means of an employment questionnaire and work history and the SF-12v2 Health Survey (SF-12v2). Subjects are seen by the investigator for three visits, which include a baseline visit (including the first injection), a second injection visit, and a final study visit (12 weeks after the second injection). This ongoing study includes 145 subjects with a diagnosis of CD. The majority were female (82.3%) and white (91.0%) and had previously been treated with botulinum toxins (77.2%). There were 106 employed at the time of disease onset, but 12.6 years later only 44% were still employed at the time of enrolment into the study, and 20% were either receiving or seeking disability benefits. The mean total dose/treatment of CD was 225.2 units for the first injection. The CDIP-58 total score was significantly improved 4 weeks after the first injection compared to baseline (p≤0.0001). Most subjects noted improvement in their global impression assessment. No new or unexpected adverse events occurred. The results from these interim analyses confirm previous controlled, single-dose studies of incobotulinumtoxinA in terms of efficacy and safety.

Prospective Study Evaluating IncobotulinumtoxinA for Cervical Dystonia or Blepharospasm: Interim Results from the First 145 Subjects with Cervical Dystonia

PubMed Central

Fernandez, Hubert H.; Pagan, Fernando; Danisi, Fabio; Greeley, David; Jankovic, Joseph; Verma, Amit; Sethi, Kapil; Pappert, Eric J.

2013-01-01

Background We report the interim results from XCiDaBLE, a large, prospective, observational “naturalistic” study evaluating Xeomin® (incobotulinumtoxinA) for Cervical Dystonia or BLEpharospasm in the United States. Methods Subjects (≥ 18 years old) with cervical dystonia (CD) are followed for two treatment cycles and monitored via Interactive Voice/Web Response. The subject's physician must have chosen to treat with incobotulinumtoxinA prior to and independent of enrollment in this study. Subject-reported scales include the Subject Global Impression-Severity and Improvement and Cervical Dystonia Impact Profile (CDIP-58), and Work Productivity and Quality of Life (QoL) are assessed by means of an employment questionnaire and work history and the SF-12v2 Health Survey (SF-12v2). Subjects are seen by the investigator for three visits, which include a baseline visit (including the first injection), a second injection visit, and a final study visit (12 weeks after the second injection). Results This ongoing study includes 145 subjects with a diagnosis of CD. The majority were female (82.3%) and white (91.0%) and had previously been treated with botulinum toxins (77.2%). There were 106 employed at the time of disease onset, but 12.6 years later only 44% were still employed at the time of enrolment into the study, and 20% were either receiving or seeking disability benefits. The mean total dose/treatment of CD was 225.2 units for the first injection. The CDIP-58 total score was significantly improved 4 weeks after the first injection compared to baseline (p≤0.0001). Most subjects noted improvement in their global impression assessment. No new or unexpected adverse events occurred. Discussion The results from these interim analyses confirm previous controlled, single-dose studies of incobotulinumtoxinA in terms of efficacy and safety. PMID:23724362

Testicular torsion

MedlinePlus

... Nelson Textbook of Pediatrics . 20th ed. Philadelphia, PA: Elsevier; 2016:chap 545. Ferri FF. Testicular torsion. In: ... FF, ed. Ferri's Clinical Advisor 2018 . Philadelphia, PA: Elsevier; 2017:1255-1255. Kryger JV. Acute and chronic ...

Torsional Carbon Nanotube Artificial Muscles

NASA Astrophysics Data System (ADS)

Foroughi, Javad; Spinks, Geoffrey M.; Wallace, Gordon G.; Oh, Jiyoung; Kozlov, Mikhail E.; Fang, Shaoli; Mirfakhrai, Tissaphern; Madden, John D. W.; Shin, Min Kyoon; Kim, Seon Jeong; Baughman, Ray H.

2011-10-01

Rotary motors of conventional design can be rather complex and are therefore difficult to miniaturize; previous carbon nanotube artificial muscles provide contraction and bending, but not rotation. We show that an electrolyte-filled twist-spun carbon nanotube yarn, much thinner than a human hair, functions as a torsional artificial muscle in a simple three-electrode electrochemical system, providing a reversible 15,000° rotation and 590 revolutions per minute. A hydrostatic actuation mechanism, as seen in muscular hydrostats in nature, explains the simultaneous occurrence of lengthwise contraction and torsional rotation during the yarn volume increase caused by electrochemical double-layer charge injection. The use of a torsional yarn muscle as a mixer for a fluidic chip is demonstrated.

Torsion Profiling of Proteins Using Magnetic Particles

PubMed Central

van Reenen, A.; Gutiérrez-Mejía, F.; van IJzendoorn, L.J.; Prins, M.W.J.

2013-01-01

We report a method to profile the torsional spring properties of proteins as a function of the angle of rotation. The torque is applied by superparamagnetic particles and has been calibrated while taking account of the magnetization dynamics of the particles. We record and compare the torsional profiles of single Protein G-Immunoglobulin G (IgG) and IgG-IgG complexes, sandwiched between a substrate and a superparamagnetic particle, for torques in the range between 0.5 × 103 and 5 × 103 pN·nm. Both molecular systems show torsional stiffening for increasing rotation angle, but the elastic and inelastic torsion stiffnesses are remarkably different. We interpret the results in terms of the structural properties of the molecules. The torsion profiling technique opens new dimensions for research on biomolecular characterization and for research on bio-nanomechanical structure-function relationships. PMID:23473490

Homozygous mutation of VPS16 gene is responsible for an autosomal recessive adolescent-onset primary dystonia.

PubMed

Cai, Xiaodong; Chen, Xin; Wu, Song; Liu, Wenlan; Zhang, Xiejun; Zhang, Doudou; He, Sijie; Wang, Bo; Zhang, Mali; Zhang, Yuan; Li, Zongyang; Luo, Kun; Cai, Zhiming; Li, Weiping

2016-05-12

Dystonia is a neurological movement disorder that is clinically and genetically heterogeneous. Herein, we report the identification a novel homozygous missense mutation, c.156 C > A in VPS16, co-segregating with disease status in a Chinese consanguineous family with adolescent-onset primary dystonia by whole exome sequencing and homozygosity mapping. To assess the biological role of c.156 C > A homozygous mutation of VPS16, we generated mice with targeted mutation site of Vps16 through CRISPR-Cas9 genome-editing approach. Vps16 c.156 C > A homozygous mutant mice exhibited significantly impaired motor function, suggesting that VPS16 is a new causative gene for adolescent-onset primary dystonia.

Attentional Modulation of Eye Torsion Responses

NASA Technical Reports Server (NTRS)

Stevenson, Scott B.; Mahadevan, Madhumitha S.; Mulligan, Jeffrey B.

2016-01-01

Eye movements generally have both reflexive and voluntary aspects, but torsional eye movements are usually thought of as a reflexive response to image rotation around the line of sight (torsional OKN) or to head roll (torsional VOR). In this study we asked whether torsional responses could be modulated by attention in a case where two stimuli rotated independently, and whether attention would influence the latency of responses. The display consisted of rear-projected radial "pinwheel" gratings, with an inner annulus segment extending from the center to 22 degrees eccentricity, and an outer annulus segment extending from 22 degrees out to 45 degrees eccentricity. The two segments rotated around the center in independent random walks, stepping randomly 4 degrees clockwise or counterclockwise at 60 Hz. Subjects were asked to attend to one or the other while keeping fixation steady at the center of the display. To encourage attention on one or the other segment of the display, subjects were asked to move a joystick in synchrony with the back and forth rotations of one part of the image while ignoring the other. Eye torsion was recorded with the scleral search coil technique, sampled at 500 Hz. All four subjects showed roughly 50% stronger torsion responses to the attended compared to unattended segments. Latency varied from 100 to 150 msec across subjects and was unchanged by attention. These findings suggest that attention can influence eye movement responses that are not typically under voluntary control.

Torsional oscillations of magnetized relativistic stars

NASA Astrophysics Data System (ADS)

Messios, Neophytos; Papadopoulos, Demetrios B.; Stergioulas, Nikolaos

2001-12-01

Strong magnetic fields in relativistic stars can be a cause of crust fracturing, resulting in the excitation of global torsional oscillations. Such oscillations could become observable in gravitational waves or in high-energy radiation, thus becoming a tool for probing the equation of state of relativistic stars. As the eigenfrequency of torsional oscillation modes is affected by the presence of a strong magnetic field, we study torsional modes in magnetized relativistic stars. We derive the linearized perturbation equations that govern torsional oscillations coupled to the oscillations of a magnetic field, when variations in the metric are neglected (Cowling approximation). The oscillations are described by a single two-dimensional wave equation, which can be solved as a boundary-value problem to obtain eigenfrequencies. We find that, in the non-magnetized case, typical oscillation periods of the fundamental l=2 torsional modes can be nearly a factor of 2 larger for relativistic stars than previously computed in the Newtonian limit. For magnetized stars, we show that the influence of the magnetic field is highly dependent on the assumed magnetic field configuration, and simple estimates obtained previously in the literature cannot be used for identifying normal modes observationally.

Exploring factors related to physical activity in cervical dystonia.

PubMed

Zetterberg, Lena; Urell, Charlotte; Anens, Elisabeth

2015-12-01

People with disabilities have reported worse health status than people without disabilities and receiving fewer preventive health services such as counseling around exercise habits. This is noteworthy considering the negative consequences associated with physical inactivity. No research has been conducted on physical activity in cervical dystonia (CD), despite its possible major impact on self-perceived health and disability. Considering the favorable consequences associated with physical activity it is important to know how to promote physical activity behavior in CD. Knowledge of variables important for such behavior in CD is therefore crucial. The aim of this study was to explore factors related to physical activity in individuals with cervical dystonia. Subjects included in this cross-sectional study were individuals diagnosed with CD and enrolled at neurology clinics (n = 369). Data was collected using one surface mailed self-reported questionnaire. Physical activity was the primary outcome variable, measured with the Physical Activity Disability Survey. Secondary outcome variables were: impact of dystonia measured with the Cervical Dystonia Impact Scale; fatigue measured with the Fatigue Severity Scale; confidence when carrying out physical activity measured with the Exercise Self-Efficacy Scale; confidence in performing daily activities without falling measured with the Falls Efficacy Scale; enjoyment of activity measured with Enjoyment of Physical Activity Scale, and social influences on physical activity measured with Social Influences on Physical Activity in addition to demographic characteristics such as age, education level and employment status. The questionnaire was completed by 173 individuals (47% response rate). The multivariate association between related variables and physical activity showed that employment, self-efficacy for physical activity, education level and consequences for daily activities explained 51% of the variance in physical

Ovarian torsion in a three-year-old girl.

PubMed

Ochsner, Todd Justin; Roos, Joel A; Johnson, Andrew S; Henderson, Janet L

2010-05-01

Ovarian torsion is the fifth most encountered gynecological emergency requiring surgery. Representing only 2.7% of surgical emergencies, it is an entity that is worth being familiar with in the emergency department (ED). Untreated ovarian torsion may result in loss of ovarian function, tissue necrosis, and death from thromboembolism or sepsis. Presenting with vague symptoms and abdominal pain, diagnosing ovarian torsion can be difficult, especially in children. The objective of this article is to present a case of pediatric ovarian torsion and to review its epidemiology, diagnosis, and treatment. A 3-year-old girl presented to the ED with vomiting, fever, anorexia, and abdominal pain. Initially diagnosed with appendicitis by physical examination and computed tomography scan, this patient was taken to the operating room for surgical exploration. The patient was subsequently found to have ovarian torsion, which was treated appropriately. Although a rare phenomenon, this case serves to increase awareness of the clinical presentation of ovarian torsion in the pediatric patient. Abdominal pain in the female child represents a challenging differential diagnosis, for which a physician must consider ovarian torsion. Copyright (c) 2010. Published by Elsevier Inc.

Torsion of partial cleft of ear lobule.

PubMed

Kumaraswamy, M; Waiker, Veena P

2014-02-01

Torsion is a well-known phenomenon involving organs with long mesentery. Torsion in the ear lobule is rare. Ear lobule is very well vascularized. In cases of partial cleft ear lobule, there is a small segment of lobule inferior to the cleft which is vascularized through the pedicles on either side of the cleft. A lady aged 89 years presented with discoloration of the ear lobule. She was diagnosed as having gangrene of the central part of lobule. The segment of the lobule had undergone more than 360° torsion. She underwent debridement of gangrenous part and lobuloplasty. In our case laxity of the stretched lobule caused the torsion of the segment followed by gangrene. This rare complication indicates the need for correction of the cleft lobule not only for esthetic purpose, but also for the prevention of torsion. Copyright © 2013 Tissue Viability Society. Published by Elsevier Ltd. All rights reserved.

Altered dorsal premotor-motor interhemispheric pathway activity in focal arm dystonia.

PubMed

Koch, Giacomo; Schneider, Susanne; Bäumer, Tobias; Franca, Michele; Münchau, Alexander; Cheeran, Binith; Fernandez del Olmo, Miguel; Cordivari, Carla; Rounis, Elisabeth; Caltagirone, Carlo; Bhatia, Kailash; Rothwell, John C

2008-04-15

Given the possible role of dorsal premotor cortex (PMd) in the pathophysiology of dystonia, we used transcranial magnetic stimulation (TMS) methods to study PMd and PMd-primary motor cortex (M1) interactions in patients with focal arm dystonia. Here, we tested the connectivity between left PMd and right M1 as well as the intracortical excitability of PMd in 11 right-handed patients with focal arm/hand dystonia and nine age-matched healthy controls. The results showed that excitability of the inhibitory connection between PMd and M1 was reduced in patients, but there was no significant difference to healthy subjects in the excitability of the facilitatory connection. A triple stimulation technique in which pairs of TMS pulses are given over PMd and their interaction measured in terms of the effect on the baseline PMd-M1 connection failed to reveal the usual pattern of interaction between the pairs of PMd stimuli. Indeed, the results in patients were similar to those seen in a group of young healthy subjects after the excitability of PMd had been changed by pretreatment with high-frequency rTMS. We suggest that reduced transcallosal inhibition from the PMd may be involved in the altered pattern of abnormal muscle contractions of agonists and antagonists (overflow). 2007 Movement Disorder Society

Peculiar torsion dynamical response of spider dragline silk

NASA Astrophysics Data System (ADS)

Liu, Dabiao; Yu, Longteng; He, Yuming; Peng, Kai; Liu, Jie; Guan, Juan; Dunstan, D. J.

2017-07-01

The torsional properties of spider dragline silks from Nephila edulis and Nephila pilipes spiders are investigated by using a torsion pendulum technique. A permanent torsional deformation is observed after even small torsional strain. This behaviour is quite different from that of the other materials tested here, i.e., carbon fiber, thin metallic wires, Kevlar fiber, and human hair. The spider dragline thus displays a strong energy dissipation upon the initial excitation (around 75% for small strains and more for a larger strain), which correspondingly reduces the amplitude of subsequent oscillations around the new equilibrium position. The variation of torsional stiffness in relaxation dynamics of spider draglines for different excitations is also determined. The experimental result is interpreted in the light of the hierarchical structure of dragline silk.

Effect of Transcranial Direct Current Stimulation on Neurorehabilitation of Task-Specific Dystonia: A Double-Blind, Randomized Clinical Trial.

PubMed

Rosset-Llobet, Jaume; Fàbregas-Molas, Sílvia; Pascual-Leone, Álvaro

2015-09-01

Task-specific focal hand dystonia can disable affected individuals. Although neurorehabilitation techniques such as sensory motor retuning can result in complete recovery in some patients, it requires many months of treatment. Combining transcranial direct current stimulation (tDCS) with neurorehabilitation is a new and promising approach that can help these patients. However, the results in different studies are contradictory. Analyze whether delivering tDCS (cathode over left and anode over right parietal region) during the neurorehabilitation process for musicians with dystonia can increase the effectiveness of therapy. A parallel double-blind randomized design was used to study 30 musicians with right-hand primary focal dystonia. All patients underwent a 2-week course of neurorehabilitation based on sensory motor retuning therapy coupled with either real or sham tDCS for the first 30 minutes of each daily 1-hour therapy session (total 10 sessions). The therapist and patient were blind to the tDCS condition. A dystonia severity score was obtained before and after the 2-week protocol. The therapist also rated the evolution of each patient. Both groups significantly improved their dystonia severity score during the 2 weeks. Score differences were 88.23 (±40.51) and 63.36 (±30.57) for the active and sham groups, respectively. The active group showed a statistically significant greater improvement. Biparietal tDCS with left-sided cathode is a safe technique that does not interfere with the neurorehabilitation procedure and can increase therapy effectiveness in rehabilitation patients with right-hand task-specific focal dystonia.

Mutations in THAP1/DYT6 reveal that diverse dystonia genes disrupt similar neuronal pathways and functions

PubMed Central

Zakirova, Zuchra; Fanutza, Tomas; Bonet, Justine; Readhead, Ben; Zhang, Weijia; Yi, Zhengzi; Beauvais, Genevieve; Zwaka, Thomas P.; Ozelius, Laurie J.; Blitzer, Robert D.; Gonzalez-Alegre, Pedro

2018-01-01

Dystonia is characterized by involuntary muscle contractions. Its many forms are genetically, phenotypically and etiologically diverse and it is unknown whether their pathogenesis converges on shared pathways. Mutations in THAP1 [THAP (Thanatos-associated protein) domain containing, apoptosis associated protein 1], a ubiquitously expressed transcription factor with DNA binding and protein-interaction domains, cause dystonia, DYT6. There is a unique, neuronal 50-kDa Thap1-like immunoreactive species, and Thap1 levels are auto-regulated on the mRNA level. However, THAP1 downstream targets in neurons, and the mechanism via which it causes dystonia are largely unknown. We used RNA-Seq to assay the in vivo effect of a heterozygote Thap1 C54Y or ΔExon2 allele on the gene transcription signatures in neonatal mouse striatum and cerebellum. Enriched pathways and gene ontology terms include eIF2α Signaling, Mitochondrial Dysfunction, Neuron Projection Development, Axonal Guidance Signaling, and Synaptic LongTerm Depression, which are dysregulated in a genotype and tissue-dependent manner. Electrophysiological and neurite outgrowth assays were consistent with those enrichments, and the plasticity defects were partially corrected by salubrinal. Notably, several of these pathways were recently implicated in other forms of inherited dystonia, including DYT1. We conclude that dysfunction of these pathways may represent a point of convergence in the pathophysiology of several forms of inherited dystonia. PMID:29364887

Bronchial obstruction secondary to idiopathic scoliosis in a child: a case report

PubMed Central

Alotaibi, Saad; Harder, James; Spier, Sheldon

2008-01-01

Introduction Patients with severe idiopathic scoliosis are reported to have significant pulmonary complications, including recurrent chest infections, alveolar hypoventilation and respiratory failure. Case presentation We report a case of a 13-year-old boy with moderate-to-severe scoliosis resulting in torsion or twisting of the bronchus intermedius, which contributed to airflow obstruction defects, as revealed by both spirometry and bronchoscopy. Conclusion We recommend that inspection of the shape of the maximal expiratory flow-volume loop obtained from spirometry, as well as other parameters suggestive of obstructive lung disease, may be important in children with scoliosis. To the best of the authors' knowledge, this is the first report of a child in which pulmonary function testing and direct visualization via a flexible bronchoscope have been used to characterize intrathoracic large airway obstruction. PMID:18498624

Descriptive epidemiology of cervical dystonia.

PubMed

Defazio, Giovanni; Jankovic, Joseph; Giel, Jennifer L; Papapetropoulos, Spyridon

2013-01-01

Cervical dystonia (CD), the most common form of adult-onset focal dystonia, has a heterogeneous clinical presentation with variable clinical features, leading to difficulties and delays in diagnosis. Owing to the lack of reviews specifically focusing on the frequency of primary CD in the general population, we performed a systematic literature search to examine its prevalence/incidence and analyze methodological differences among studies. We performed a systematic literature search to examine the prevalence data of primary focal CD. Sixteen articles met our methodological criteria. Because the reported prevalence estimates were found to vary widely across studies, we analyzed methodological differences and other factors to determine whether true differences exist in prevalence rates among geographic areas (and by gender and age distributions), as well as to facilitate recommendations for future studies. Prevalence estimates ranged from 20-4,100 cases/million. Generally, studies that relied on service-based and record-linkage system data likely underestimated the prevalence of CD, whereas population-based studies suffered from over-ascertainment. The more methodologically robust studies yielded a range of estimates of 28-183 cases/million. Despite the varying prevalence estimates, an approximate 2:1 female:male ratio was consistent among many studies. Three studies estimated incidence, ranging from 8-12 cases/million person-years. Although several studies have attempted to estimate the prevalence and incidence of CD, there is a need for additional well-designed epidemiological studies on primary CD that include large populations; use defined CD diagnostic criteria; and stratify for factors such as age, gender, and ethnicity.

Stuttering in Parkinson's disease after deep brain stimulation: A note on dystonia and low-frequency stimulation.

PubMed

Mendonça, Marcelo D; Barbosa, Raquel; Seromenho-Santos, Alexandra; Reizinho, Carla; Bugalho, Paulo

2018-04-01

Stuttering, a speech fluency disorder, is a rare complication of Deep Brain Stimulation (DBS) in Parkinson's Disease (PD). We report a 61 years-old patient with PD, afflicted by severe On and Off dystonia, treated with Subthalamic Nucleus DBS that developed post-DBS stuttering while on 130 Hz stimulation. Stuttering reduction was noted when frequency was changed to 80 Hz, but the previously observed dystonia improvement was lost. There are no reports in literature on patients developing stuttering with low-frequency stimulation. We question if low-frequency stimulation could have a role for managing PD's post-DBS stuttering, and notice that stuttering improvement was associated with dystonia worsening suggesting that they are distinct phenomena. Copyright © 2018 Elsevier Ltd. All rights reserved.

Can Gravity Probe B usefully constrain torsion gravity theories?

DOE Office of Scientific and Technical Information (OSTI.GOV)

Flanagan, Eanna E.; Rosenthal, Eran

2007-06-15

In most theories of gravity involving torsion, the source for torsion is the intrinsic spin of matter. Since the spins of fermions are normally randomly oriented in macroscopic bodies, the amount of torsion generated by macroscopic bodies is normally negligible. However, in a recent paper, Mao et al. (arXiv:gr-qc/0608121) point out that there is a class of theories, including the Hayashi-Shirafuji (1979) theory, in which the angular momentum of macroscopic spinning bodies generates a significant amount of torsion. They further argue that, by the principle of action equals reaction, one would expect the angular momentum of test bodies to couplemore » to a background torsion field, and therefore the precession of the Gravity Probe B gyroscopes should be affected in these theories by the torsion generated by the Earth. We show that in fact the principle of action equals reaction does not apply to these theories, essentially because the torsion is not an independent dynamical degree of freedom. We examine in detail a generalization of the Hayashi-Shirafuji theory suggested by Mao et al. called Einstein-Hayashi-Shirafuji theory. There are a variety of different versions of this theory, depending on the precise form of the coupling to matter chosen for the torsion. We show that, for any coupling to matter that is compatible with the spin transport equation postulated by Mao et al., the theory has either ghosts or an ill-posed initial-value formulation. These theoretical problems can be avoided by specializing the parameters of the theory and in addition choosing the standard minimal coupling to matter of the torsion tensor. This yields a consistent theory, but one in which the action equals reaction principle is violated, and in which the angular momentum of the gyroscopes does not couple to the Earth's torsion field. Thus, the Einstein-Hayashi-Shirafuji theory does not predict a detectable torsion signal for Gravity Probe B. There may be other torsion theories which

Idiopathic Ophthalmodynia and Idiopathic Rhinalgia: A Prospective Series of 16 New Cases.

PubMed

Pareja, Juan A; Montojo, Teresa; Guerrero, Ángel L; Álvarez, Mónica; Porta-Etessam, Jesús; Cuadrado, María L

2015-01-01

Idiopathic ophthalmodynia and idiopathic rhinalgia were described a few years ago. These conditions seem specific pain syndromes with a distinctive location in the eye or in the nose. We aimed to present a new prospective series in order to verify the consistency of these syndromes. We performed a descriptive study of all patients referred to our regional neurologic clinics from 2010 to 2014 because of facial pain exclusively felt in the eye or in the nose fulfilling the proposed diagnostic criteria for idiopathic ophthalmodynia and idiopathic rhinalgia. There were 9 patients with idiopathic ophthalmodynia and 7 patients with idiopathic rhinalgia, with a clear female preponderance, and a mean age at onset in the fifth decade. The pain was usually moderate and the temporal pattern was generally chronic. Only one patient reported accompaniments (hypersensitivity to the light and to the flow of air in the symptomatic eye). Preventive treatment with amitriptyline, pregabalin, or gabapentin was partially or totally effective. The clinical features of this new series parallels those of the original description, thus indicating that both idiopathic ophthalmodynia and idiopathic rhinalgia have clear-cut clinical pictures with excellent consistency both inter- and intra-individually. © 2015 American Headache Society.

Continuous involuntary hand movements and schizencephaly: epilepsia partialis continua or dystonia?

PubMed

Marinelli, Lucio; Bonzano, Laura; Saitta, Laura; Trompetto, Carlo; Abbruzzese, Giovanni

2012-04-01

Schizencephaly is regarded as a malformation of cortical development (due to abnormal neuronal organization) and may be associated with continuous involuntary hand movements. The mechanisms underlying these movements are not clear and both dystonia and epilepsia partialis continua have been considered in previously reported cases. We describe a young patient affected by schizencephaly and continuous involuntary movements of the contralateral hand. Functional MRI showed bilateral cerebral activation, while the subject performed tapping movements with the affected hand and no significant difference in the activation pattern after diazepam infusion. Standard and back-averaged EEG showed no alterations. The results obtained from these investigations and the clinical features of the involuntary movements are not in favor of an epileptic genesis, while support the diagnosis of secondary dystonia.

Testicular torsion repair

MedlinePlus

... and fertility. Patient Instructions Surgical wound care - open Images Male reproductive anatomy Testicular torsion repair - series References Elder JS. Disorders and anomalies of the scrotal contents. In: ...

Torsion limits from t t macr production at the LHC

NASA Astrophysics Data System (ADS)

de Almeida, F. M. L.; de Andrade, F. R.; do Vale, M. A. B.; Nepomuceno, A. A.

2018-04-01

Torsion models constitute a well-known class of extended quantum gravity models. In this work, one investigates the phenomenological consequences of a torsion field interacting with top quarks at the LHC. A torsion field could appear as a new heavy state characterized by its mass and couplings to fermions. This new state would form a resonance decaying into a top antitop pair. The latest ATLAS t t ¯ production results from LHC 13 TeV data are used to set limits on torsion parameters. The integrated luminosity needed to observe torsion resonance at the next LHC upgrades are also evaluated, considering different values for the torsion mass and its couplings to Standard Model fermions. Finally, prospects for torsion exclusion at the future LHC phases II and III are obtained using fast detector simulations.

Torsional ARC Effectively Expands the Visual Field in Hemianopia

PubMed Central

Satgunam, PremNandhini; Peli, Eli

2012-01-01

Purpose Exotropia in congenital homonymous hemianopia has been reported to provide field expansion that is more useful when accompanied with harmonios anomalous retinal correspondence (HARC). Torsional strabismus with HARC provides a similar functional advantage. In a subject with hemianopia demonstrating a field expansion consistent with torsion we documented torsional strabismus and torsional HARC. Methods Monocular visual fields under binocular fixation conditions were plotted using a custom dichoptic visual field perimeter (DVF). The DVF was also modified to measure perceived visual directions under dissociated and associated conditions across the central 50° diameter field. The field expansion and retinal correspondence of a subject with torsional strabismus (along with exotropia and right hypertropia) with congenital homonymous hemianopia was compared to that of another exotropic subject with acquired homonymous hemianopia without torsion and to a control subject with minimal phoria. Torsional rotations of the eyes were calculated from fundus photographs and perimetry. Results Torsional ARC documented in the subject with congenital homonymous hemianopia provided a functional binocular field expansion up to 18°. Normal retinal correspondence was mapped for the full 50° visual field in the control subject and for the seeing field of the acquired homonymous hemianopia subject, limiting the functional field expansion benefit. Conclusions Torsional strabismus with ARC, when occurring with homonymous hemianopia provides useful field expansion in the lower and upper fields. Dichoptic perimetry permits documentation of ocular alignment (lateral, vertical and torsional) and perceived visual direction under binocular and monocular viewing conditions. Evaluating patients with congenital or early strabismus for HARC is useful when considering surgical correction, particularly in the presence of congenital homonymous hemianopia. PMID:22885782

Torsional actuator motor using solid freeform fabricated PZT ceramics

NASA Astrophysics Data System (ADS)

Kim, Chulho; Wu, Carl C. M.; Bender, Barry

2004-07-01

A torsional actuator has been developed at NRL utilizing the high piezoelectric shear coefficient, d15. This torsional actuator uses an even number of alternately poled segments of electroactive PZT. Under an applied electric field, the torsional actuator produces large angular displacement and a high torque. The solid freeform fabrication technique of the laminated object manufacturing (LOM) is used for rapid prototyping of torsional actuator with potential cost and time saving. First step to demonstrate the feasibility of the LOM technique for the torsional actuator device fabrication is to make near net shape segments. We report a prototype PZT torsional actuator using LOM prepared PZT-5A segments. Fabrication processes and test results are described. The torsional actuator PZT-5A tube has dimensions of 13 cm long, 2.54 cm OD and 1.9 cm ID. Although the piezoelectric strain is small, it may be converted into large displacement via accumulation of the small single cycle displacements over many cycles using AC driving voltage such as with a rotary 'inchworm' actuator or an ultrasonic rotary motor. A working prototype of a full-cycle motor driven by the piezoelectric torsional actuator has been achieved. The rotational speed is 1,200 rpm under 200 V/cm field at the resonant frequency of 4.5 kHz.

Static vacuum solutions on curved space-times with torsion

NASA Astrophysics Data System (ADS)

Shabani, Hamid; Ziaie, Amir Hadi

2018-06-01

The Einstein-Cartan-Kibble-Sciama (ECKS) theory of gravity naturally extends Einstein’s general relativity (GR) to include intrinsic angular momentum (spin) of matter. The main feature of this theory consists of an algebraic relation between space-time torsion and spin of matter, which indeed deprives the torsion of its dynamical content. The Lagrangian of ECKS gravity is proportional to the Ricci curvature scalar constructed out of a general affine connection so that owing to the influence of matter energy-momentum and spin, curvature and torsion are produced and interact only through the space-time metric. In the absence of spin, the space-time torsion vanishes and the theory reduces to GR. It is however possible to have torsion propagation in vacuum by resorting to a model endowed with a nonminimal coupling between curvature and torsion. In the present work we try to investigate possible effects of the higher order terms that can be constructed from space-time curvature and torsion, as the two basic constituents of Riemann-Cartan geometry. We consider Lagrangians that include fourth-order scalar invariants from curvature and torsion and then investigate the resulting field equations. The solutions that we find show that there could exist, even in vacuum, nontrivial static space-times that admit both black holes and naked singularities.

Incidence and predictive factors of isolated neonatal penile glanular torsion.

PubMed

Sarkis, Pierrot E; Sadasivam, Muthurajan

2007-12-01

To determine the incidence of isolated neonatal penile glanular torsion, describe the basic characteristics, and explore the relationship between foreskin and glans torsion. A prospective survey was conducted of all male newborns admitted to nursery after delivery, or neonates less than 3 months presenting for circumcision. Cases with associated genital malformations were excluded. The incidence of isolated neonatal penile torsion was 27% (95% CI: 22.2%-31.84%), to the left in 99% of cases. In 3.5% of cases, the penis had an angle <10 degrees, and 9.5% >20 degrees. Using Spearman's correlational coefficient, deviation of penile raphe from the midline at the foreskin tip had a better correlation with glans torsion than deviation of raphe at the coronal sulcus (0.727 vs 0.570; both significant at p<0.01). Isolated neonatal penile torsion is more common than reported. The median raphe of the penis may be normal and mask unexpected glans torsion. Median raphe torsion at foreskin tip can be used as a predictor for glans torsion. Clinical significance and relation to adult penile torsion are beyond the scope of the study.

An Axial-Torsional, Thermomechanical Fatigue Testing Technique

NASA Technical Reports Server (NTRS)

Kalluri, Sreeramesh; Bonacuse, Peter J.

1995-01-01

A technique for conducting strain-controlled, thermomechanical, axial-torsional fatigue tests on thin-walled tubular specimens was developed. Three waveforms of loading, namely, the axial strain waveform, the engineering shear strain waveform, and the temperature waveform were required in these tests. The phasing relationships between the mechanical strain waveforms and the temperature and axial strain waveforms were used to define a set of four axial-torsional, thermomechanical fatigue (AT-TMF) tests. Real-time test control (3 channels) and data acquisition (a minimum of 7 channels) were performed with a software program written in C language and executed on a personal computer. The AT-TMF testing technique was used to investigate the axial-torsional thermomechanical fatigue behavior of a cobalt-base superalloy, Haynes 188. The maximum and minimum temperatures selected for the AT-TMF tests were 760 and 316 C, respectively. Details of the testing system, calibration of the dynamic temperature profile of the thin-walled tubular specimen, thermal strain compensation technique, and test control and data acquisition schemes, are reported. The isothermal, axial, torsional, and in- and out-of-phase axial-torsional fatigue behaviors of Haynes 188 at 316 and 760 C were characterized in previous investigations. The cyclic deformation and fatigue behaviors of Haynes 188 in AT-TMF tests are compared to the previously reported isothermal axial-torsional behavior of this superalloy at the maximum and minimum temperatures.

Torsional Splitting in the Degenerate Vibrational States of (70)Ge(2)H(6): Rotation-Torsion Analysis of the nu(7) and nu(9) Fundamentals.

PubMed

Lattanzi; di Lauro C; Bürger; Mkadmi

2000-09-01

The rotational and torsional structure of the nu(7) and nu(9) degenerate fundamentals of (70)Ge(2)H(6) has been analyzed under high resolution. The torsional structure of both v(7) = 1 and v(9) = 1 states can be fitted by a simple one-parameter formula. The x,y-Coriolis interaction with the parallel nu(5) fundamental was accounted for in the analysis of nu(7). A strong perturbation of the J structure of the E(3s) torsional component of the KDeltaK = -2 subbranches of nu(9) can be explained by the resonance with an E(3s) excited level of the pure torsional manifold. The perturber is centered at 361.58 cm(-1), very close to the value estimated with a barrier height of 285 cm(-1). This confirms that the fundamental torsional wavenumber is close to 103 cm(-1), in good agreement with the "ab initio" prediction. The torsional splittings of all the infrared active degenerate fundamentals, nu(7), nu(8), and nu(9), follow the trend predicted by theory, and have been fitted by exploratory calculations accounting only for the torsional Coriolis-coupling mechanism of all degenerate vibrational fundamentals in several torsional states. This confirms that torsional Coriolis coupling is the dominant mechanism responsible for the decrease of the torsional splitting in the degenerate vibrational states. A higher value of the barrier had to be used for the nu(9) mode. Copyright 2000 Academic Press.

Hydroxyl free radical production during torsional phacoemulsification.

PubMed

Aust, Steven D; Hebdon, Thomas; Humbert, Jordan; Dimalanta, Ramon

2010-12-01

To quantitate free radical generation during phacoemulsification using an ultrasonic phacoemulsification device that includes a torsional mode and evaluate tip designs specific to the torsional mode. Chemistry and Biochemistry Department, Utah State University, Logan, Utah, USA. Experimental study. Experiments were performed using the Infiniti Vision System and OZil handpiece. Hydroxyl radical concentrations in the aspirated irrigation solution during torsional phacoemulsification were quantitated as nanomolar malondialdehyde (nM MDA) and determined spectrophotometrically using the deoxyribose assay. The mean free radical production during phacoemulsification with torsional modality at 100% amplitude was 30.1 nM MDA ± 5.1 (SD) using a 0.9 mm 45-degree Kelman tapered ABS tip. With other tip designs intended for use with the torsional modality, free radical production was further reduced when fitted with the 0.9 mm 45-degree Kelman mini-flared ABS tip (13.2 ± 5.6 nM MDA) or the 0.9 mm 45-degree OZil-12 mini-flared ABS tip (14.3 ± 6.7 nM MDA). Although the measurements resulting from the use of the latter 2 tips were not statistically significantly different (P ≈ .25), they were different from those of the tapered tip (P<.0001). The MDA concentration in the aspirated irrigation solution using the torsional modality was approximately one half that reported for the handpiece's longitudinal modality in a previous study using the same bent-tip design (Kelman tapered, P<.0001). The level of MDA was further reduced approximately one half with torsional-specific tips. Copyright © 2010 ASCRS and ESCRS. Published by Elsevier Inc. All rights reserved.

Focal dystonia of right hand with mirror movements upon use of left arm.

PubMed

Rana, Abdul Qayyum; Athar, Aysha

2013-05-01

Dystonia is a movement disorder characterized by sustained muscle contractions, causing twisting and repetitive movements or abnormal postures of affected body parts. Here, we present a novel case of focal dystonia of a 51 years old right-handed woman who had developed difficulty in writing and performing fine motor tasks. Due to a discomfort in her right hand at use, she started using her left hand instead and noticed inconsistent mirror movements in her right hand upon use of left hand. She was treated with trihexyphenidyl which allowed her right hand to function better, though writing still remained a problem.

Hydrostatic self-aligning axial/torsional mechanism

DOEpatents

O'Connor, Daniel G.; Gerth, Howard L.

1990-01-01

The present invention is directed to a self-aligning axial/torsional loading mechanism for testing the strength of brittle materials which are sensitive to bending moments. Disposed inside said self-aligning loading mechanism is a frictionless hydrostatic ball joint with a flexure ring to accommodate torsional loads through said ball joint.

Heat production: Longitudinal versus torsional phacoemulsification.

PubMed

Han, Young Keun; Miller, Kevin M

2009-10-01

To compare the heat production of longitudinal versus torsional phacoemulsification under strict laboratory test conditions. Department of Ophthalmology, David Geffen School of Medicine at UCLA, and Jules Stein Eye Institute, Los Angeles, California, USA. Two Infiniti phacoemulsification handpieces were inserted into silicone test chambers filled with a balanced salt solution and imaged serially using a thermal camera. Incision compression was simulated by suspending 25.3 g weights from the silicone chambers. To simulate occlusion of the phacoemulsification tip, the aspiration line was clamped. Peak temperatures were measured 0, 10, 30, 60, and 120 seconds after the commencement of continuous ultrasound power. The 2 handpieces, operating exclusively in longitudinal or torsional modes, were compared 3 ways: (1) using the same power displayed on the instrument console, (2) using identical stroke lengths, and (3) using the same applied energy, a product of stroke length and frequency. For all 3 comparisons, torsional phacoemulsification resulted in lower temperatures at each time point. At the same displayed power setting, the scenario most familiar to cataract surgeons, longitudinal phacoemulsification elevated temperatures up to 41.5 degrees C more than torsional phacoemulsification. Torsional phacoemulsification generated less heat than longitudinal phacoemulsification in all 3 comparison tests. Lower operating temperatures indicate lower heat generation within the same volume of fluid, and this may provide additional thermal protection during cataract surgery.

Diagnosis & Treatment of Dystonia

PubMed Central

Jinnah, H. A.

2014-01-01

Synopsis The dystonias are a group of disorders characterized by excessive involuntary muscle contractions leading to abnormal postures and/or repetitive movements. There are many different clinical manifestations and many different causes. A careful assessment of the clinical manifestations is helpful for identifying syndromic patterns that focus diagnostic testing on potential causes. If a cause can be identified, specific etiology-based treatments may be available. However, in the majority of cases, a specific cause cannot be identified, and treatments are based on symptoms. Treatment options include counseling and education, oral medications, botulinum toxin injections, and several surgical procedures. A substantial reduction in symptoms and improved quality of life can be achieved in the majority of patients by combining these various options. PMID:25432724

Nonminimal couplings, gravitational waves, and torsion in Horndeski's theory

NASA Astrophysics Data System (ADS)

Barrientos, José; Cordonier-Tello, Fabrizio; Izaurieta, Fernando; Medina, Perla; Narbona, Daniela; Rodríguez, Eduardo; Valdivia, Omar

2017-10-01

The Horndeski Lagrangian brings together all possible interactions between gravity and a scalar field that yield second-order field equations in four-dimensional spacetime. As originally proposed, it only addresses phenomenology without torsion, which is a non-Riemannian feature of geometry. Since torsion can potentially affect interesting phenomena such as gravitational waves and early universe inflation, in this paper we allow torsion to exist and propagate within the Horndeski framework. To achieve this goal, we cast the Horndeski Lagrangian in Cartan's first-order formalism and introduce wave operators designed to act covariantly on p -form fields that carry Lorentz indices. We find that nonminimal couplings and second-order derivatives of the scalar field in the Lagrangian are indeed generic sources of torsion. Metric perturbations couple to the background torsion, and new torsional modes appear. These may be detected via gravitational waves but not through Yang-Mills gauge bosons.

What parents think and feel about deep brain stimulation in paediatric secondary dystonia including cerebral palsy: A qualitative study of parental decision-making.

PubMed

Austin, Allana; Lin, Jean-Pierre; Selway, Richard; Ashkan, Keyoumars; Owen, Tamsin

2017-01-01

Dystonia is characterised by involuntary movements and postures. Deep Brain Stimulation (DBS) is effective in reducing dystonic symptoms in primary dystonia in childhood and to lesser extent in secondary dystonia. How families and children decide to choose DBS surgery has never been explored. To explore parental decision-making for DBS in paediatric secondary dystonia. Data was gathered using semi-structured interviews with eight parents of children with secondary dystonia who had undergone DBS. Interviews were analysed using Interpretative Phenomenological Analysis. For all parents the decision was viewed as significant, with life altering consequences for the child. These results suggested that parents were motivated by a hope for a better life and parental duty. This was weighed against consideration of risks, what the child had to lose, and uncertainty of DBS outcome. Decisions were also influenced by the perspectives of their child and professionals. The decision to undergo DBS was an ongoing process for parents, who ultimately were struggling in the face of uncertainty whilst trying to do their best as parents for their children. These findings have important clinical implications given the growing referrals for consideration of DBS childhood dystonia, and highlights the importance of further quantitative research to fully establish the efficacy of DBS in secondary dystonia to enhance informed decision-making. Copyright © 2016. Published by Elsevier Ltd.

Torsional vibration measurements on rotating shaft system using laser doppler vibrometer

NASA Astrophysics Data System (ADS)

Xiang, Ling; Yang, Shixi; Gan, Chunbiao

2012-11-01

In this work, a laser torsional vibrameter was used to measure the torsion vibration of a rotating shaft system under electrical network impact. Based on the principles of laser Doppler velocimetry, the laser torsional vibrometer (LTV) are non-contact measurement of torsional oscillation of rotating shafts, offering significant advantages over conventional techniques. Furthermore, a highly complex shafting system is analyzed by a modified Riccati torsional transfer matrix. The system is modeled as a chain consisting of an elastic spring with concentrated mass points, and the multi-segments lumped mass model is established for this shafting system. By the modified Riccati torsional transfer matrix method, an accumulated calculation is effectively eliminated to obtain the natural frequencies. The electrical network impacts can activize the torsional vibration of shaft system, and the activized torsion vibration frequencies contained the natural frequencies of shaft system. The torsional vibrations of the shaft system were measured under electrical network impacts in laser Doppler torsional vibrometer. By comparisons, the natural frequencies by measurement were consistent with the values by calculation. The results verify the instrument is robust, user friendly and can be calibrated in situ. The laser torsional vibrometer represents a significant step forward in rotating machinery diagnostics.

Burke-Fahn-Marsden dystonia severity, Gross Motor, Manual Ability, and Communication Function Classification scales in childhood hyperkinetic movement disorders including cerebral palsy: a 'Rosetta Stone' study.

PubMed

Elze, Markus C; Gimeno, Hortensia; Tustin, Kylee; Baker, Lesley; Lumsden, Daniel E; Hutton, Jane L; Lin, Jean-Pierre S-M

2016-02-01

Hyperkinetic movement disorders (HMDs) can be assessed using impairment-based scales or functional classifications. The Burke-Fahn-Marsden Dystonia Rating Scale-movement (BFM-M) evaluates dystonia impairment, but may not reflect functional ability. The Gross Motor Function Classification System (GMFCS), Manual Ability Classification System (MACS), and Communication Function Classification System (CFCS) are widely used in the literature on cerebral palsy to classify functional ability, but not in childhood movement disorders. We explore the concordance of these three functional scales in a large sample of paediatric HMDs and the impact of dystonia severity on these scales. Children with HMDs (n=161; median age 10y 3mo, range 2y 6mo-21y) were assessed using the BFM-M, GMFCS, MACS, and CFCS from 2007 to 2013. This cross-sectional study contrasts the information provided by these scales. All four scales were strongly associated (all Spearman's rank correlation coefficient rs >0.72, p<0.001), with worse dystonia severity implying worse function. Secondary dystonias had worse dystonia and less function than primary dystonias (p<0.001). A longer proportion of life lived with dystonia is associated with more severe dystonia (rs =0.42, p<0.001). The BFM-M is strongly linked with the GMFCS, MACS, and CFCS, irrespective of aetiology. Each scale offers interrelated but complementary information and is applicable to all aetiologies. Movement disorders including cerebral palsy can be effectively evaluated using these scales. © 2015 Mac Keith Press.

Design and analysis of a torsion braid pendulum displacement transducer

NASA Technical Reports Server (NTRS)

Rind, E.; Bryant, E. L.

1981-01-01

The dynamic properties at various temperatures of braids impregnated with polymer can be measured by using the braid as the suspension of a torsion pendulum. This report describes the electronic and mechanical design of a torsional braid pendulum displacement transducer which is an advance in the state of the art. The transducer uses a unique optical design consisting of refracting quartz windows used in conjunction with a differential photocell to produce a null signal. The release mechanism for initiating free torsional oscillation of the pendulum has also been improved. Analysis of the precision and accuracy of the transducer indicated that the maximum relative error in measuring torsional amplitude was approximately 0. A serious problem inherent in all instruments which use a torsional suspension was analyzed: misalignment of the physical and torsional axes of the torsional member which results in modulation of the amplitude of the free oscillation.

Seismic cross-coupling noise in torsion pendulums

NASA Astrophysics Data System (ADS)

Shimoda, Tomofumi; Aritomi, Naoki; Shoda, Ayaka; Michimura, Yuta; Ando, Masaki

2018-05-01

Detection of low-frequency gravitational waves around 0.1 Hz is one of the important targets for future gravitational wave observation. One of the main sources of the expected signals is gravitational waves from binary intermediate-mass black hole coalescences which is proposed as one of the formation scenarios of supermassive black holes. By using a torsion pendulum, which can have a resonance frequency of a few millihertz, such signals can be measured on the ground since its rotational motion can act as a free mass down to 0.01 Hz. However, sensitivity of a realistic torsion pendulum will suffer from torsional displacement noise introduced from translational ground motion in the main frequency band of interest. Such noise is called seismic cross-coupling noise, and there has been little research on it. In this paper, systematic investigation is performed to identify routes of cross-coupling transfer for standard torsion pendulums. Based on the results, this paper also proposes reduction schemes of cross-coupling noise, and they were demonstrated experimentally in agreement with theory. This result establishes a basic way to reduce seismic noise in torsion pendulums for the most significant coupling routes.

Rating scales for dystonia in cerebral palsy: reliability and validity.

PubMed

Monbaliu, E; Ortibus, E; Roelens, F; Desloovere, K; Deklerck, J; Prinzie, P; de Cock, P; Feys, H

2010-06-01

This study investigated the reliability and validity of the Barry-Albright Dystonia Scale (BADS), the Burke-Fahn-Marsden Movement Scale (BFMMS), and the Unified Dystonia Rating Scale (UDRS) in patients with bilateral dystonic cerebral palsy (CP). Three raters independently scored videotapes of 10 patients (five males, five females; mean age 13 y 3 mo, SD 5 y 2 mo, range 5-22 y). One patient each was classified at levels I-IV in the Gross Motor Function Classification System and six patients were classified at level V. Reliability was measured by (1) intraclass correlation coefficient (ICC) for interrater reliability, (2) standard error of measurement (SEM) and smallest detectable difference (SDD), and (3) Cronbach's alpha for internal consistency. Validity was assessed by Pearson's correlations among the three scales used and by content analysis. Moderate to good interrater reliability was found for total scores of the three scales (ICC: BADS=0.87; BFMMS=0.86; UDRS=0.79). However, many subitems showed low reliability, in particular for the UDRS. SEM and SDD were respectively 6.36% and 17.72% for the BADS, 9.88% and 27.39% for the BFMMS, and 8.89% and 24.63% for the UDRS. High internal consistency was found. Pearson's correlations were high. Content validity showed insufficient accordance with the new CP definition and classification. Our results support the internal consistency and concurrent validity of the scales; however, taking into consideration the limitations in reliability, including the large SDD values and the content validity, further research on methods of assessment of dystonia is warranted.

Torsional vibration of aircraft engines

NASA Technical Reports Server (NTRS)

Lurenbaum, Karl

1932-01-01

Exhaustive torsional-vibration investigations are required to determine the reliability of aircraft engines. A general outline of the methods used for such investigations and of the theoretical and mechanical means now available for this purpose is given, illustrated by example. True vibration diagrams are usually obtained from vibration measurements on the completed engine. Two devices for this purpose and supplementing each other, the D.V.L. torsiograph and the D.V.L. torsion recorder, are described in this report.

MSTor version 2013: A new version of the computer code for the multi-structural torsional anharmonicity, now with a coupled torsional potential

NASA Astrophysics Data System (ADS)

Zheng, Jingjing; Meana-Pañeda, Rubén; Truhlar, Donald G.

2013-08-01

We present an improved version of the MSTor program package, which calculates partition functions and thermodynamic functions of complex molecules involving multiple torsions; the method is based on either a coupled torsional potential or an uncoupled torsional potential. The program can also carry out calculations in the multiple-structure local harmonic approximation. The program package also includes seven utility codes that can be used as stand-alone programs to calculate reduced moment of inertia matrices by the method of Kilpatrick and Pitzer, to generate conformational structures, to calculate, either analytically or by Monte Carlo sampling, volumes for torsional subdomains defined by Voronoi tessellation of the conformational subspace, to generate template input files for the MSTor calculation and Voronoi calculation, and to calculate one-dimensional torsional partition functions using the torsional eigenvalue summation method. Restrictions: There is no limit on the number of torsions that can be included in either the Voronoi calculation or the full MS-T calculation. In practice, the range of problems that can be addressed with the present method consists of all multitorsional problems for which one can afford to calculate all the conformational structures and their frequencies. Unusual features: The method can be applied to transition states as well as stable molecules. The program package also includes the hull program for the calculation of Voronoi volumes, the symmetry program for determining point group symmetry of a molecule, and seven utility codes that can be used as stand-alone programs to calculate reduced moment-of-inertia matrices by the method of Kilpatrick and Pitzer, to generate conformational structures, to calculate, either analytically or by Monte Carlo sampling, volumes of the torsional subdomains defined by Voronoi tessellation of the conformational subspace, to generate template input files, and to calculate one-dimensional torsional

Non-minimally coupled scalar field cosmology with torsion

NASA Astrophysics Data System (ADS)

Cid, Antonella; Izaurieta, Fernando; Leon, Genly; Medina, Perla; Narbona, Daniela

2018-04-01

In this work we present a generalized Brans-Dicke lagrangian including a non-minimally coupled Gauss-Bonnet term without imposing the vanishing torsion condition. In the resulting field equations, the torsion is closely related to the dynamics of the scalar field, i.e., if non-minimally coupled terms are present in the theory, then the torsion must be present. For the studied lagrangian we analyze the cosmological consequences of an effective torsional fluid and we show that this fluid can be responsible for the current acceleration of the universe. Finally, we perform a detailed dynamical system analysis to describe the qualitative features of the model, we find that accelerated stages are a generic feature of this scenario.

Comparison of torsional and longitudinal modes using phacoemulsification parameters.

PubMed

Rekas, Marek; Montés-Micó, Robert; Krix-Jachym, Karolina; Kluś, Adam; Stankiewicz, Andrzej; Ferrer-Blasco, Teresa

2009-10-01

To compare phacoemulsification parameters of torsional and longitudinal ultrasound modes. Ophthalmology Department, Military Health Service Institute, Warsaw, Poland. This prospective study evaluated eyes 1, 7, and 30 days after phacoemulsification with an Infiniti Vision System using the torsional or longitudinal ultrasound (US) mode. Cataract classification was according to the Lens Opacities Classification System II. Nucleus fragmentation was by the phaco-chop and quick-chop methods. Primary outcome measures were phaco time, mean phaco power, mean torsional amplitude, and aspiration time. Total energy, defined as cumulative dissipated energy (CDE) x aspiration time, and the effective coefficient, defined as aspiration time/phaco time, were also calculated. Four hundred eyes were evaluated. The CDE was statistically significantly lower in the torsional mode for nucleus grades I, II, and III (P<.001) but not for grade IV (P>.05). Aspiration time was statistically significantly shorter in the torsional mode than in the longitudinal mode for nucleus grades III and IV (P<.05). Total energy was significantly lower in the torsional mode for all nucleus densities (P<.05). The effective coefficient was significantly lower in the longitudinal mode except for nucleus grade I (P<.05). Torsional phacoemulsification was more effective than longitudinal phacoemulsification in the amount of applied fluid and the quantity of US energy expended. With the torsional method, it was possible to maintain a constant ratio of amount of fluid flow to quantity of US energy used, regardless of nucleus density.

Blood harmane (1-methyl-9H-pyrido[3,4-b]indole) concentration in dystonia cases vs. controls.

PubMed

Louis, Elan D; Factor-Litvak, Pam; Michalec, Monika; Jiang, Wendy; Zheng, Wei

2014-09-01

Harmane (1-methyl-9H-pyrido[3,4-b]indole) (HA) is a potent neurotoxin that has been linked to two neurological diseases, essential tremor and Parkinson's disease. Blood harmane concentrations [HA] are elevated in patients with both diseases. An important question is whether HA is specifically linked with these diseases or alternatively, is a non-specific marker of neurological illness. We assessed whether blood [HA] was elevated in patients with a third neurological disease, dystonia, comparing them to controls. Blood [HA] was quantified by high performance liquid chromatography. Subjects comprised 104 dystonia cases and 107 controls. Mean log blood [HA] in dystonia cases was similar to that of controls (0.41±0.51g(-10)/ml vs. 0.38±0.61g(-10)/ml, t=0.42, p=0.68). In unadjusted and adjusted logistic regression analyses, log blood [HA] was not associated with the outcome (diagnosis of dystonia vs. control): odds ratio (OR)unadjusted=1.11, 95% confidence interval (CI)=0.69-1.79, p=0.68; ORadjusted=1.07, 95% CI=0.58-1.97, p=0.84. In contrast to the elevated blood [HA] that has been reported in patients with essential tremor and Parkinson's disease, our data demonstrate that blood [HA] was similar in patients with dystonia and controls. These findings provide the first support for the notion that an elevated blood [HA] is not a broad feature of neurological disease, and may be a specific feature of certain tremor disorders. Copyright © 2014 Elsevier Inc. All rights reserved.

Blood Harmane (1-methyl-9H-pyrido[3,4-b]indole) Concentration in Dystonia Cases vs. Controls

PubMed Central

Louis, Elan D.; Factor-Litvak, Pam; Michalec, Monika; Jiang, Wendy; Zheng, Wei

2014-01-01

Background Harmane (1-methyl-9H-pyrido[3,4-b]indole) (HA) is a potent neurotoxin that has been linked to two neurological diseases, essential tremor and Parkinson’s disease. Blood harmane concentrations [HA] are elevated in patients with both diseases. An important question is whether HA is specifically linked with these diseases or alternatively, is a non-specific marker of neurological illness. Objectives We assessed whether blood [HA] was elevated in patients with a third neurological disease, dystonia, comparing them to controls. Methods Blood [HA] were quantified by high performance liquid chromatography. Subjects comprised 104 dystonia cases and 107 controls. Results Mean log blood [HA] in dystonia cases was similar to that of controls (0.41 ± 0.51 g −10/ml vs. 0.38 ± 0.61 g−10/ml, t = 0.42, p = 0.68). In unadjusted and adjusted logistic regression analyses, log blood [HA] was not associated with the outcome (diagnosis of dystonia vs. control): odds ratio (OR) unadjusted = 1.11, 95% confidence interval (CI) = 0.69 – 1.79, p = 0.68; OR adjusted = 1.07, 95% CI = 0.58 – 1.97, p = 0.84. Conclusions In contrast to the elevated blood [HA] that has been reported in patients with essential tremor and Parkinson’s disease, our data demonstrate that blood [HA] was similar in patients with dystonia and controls. These findings provide the first support for the notion that an elevated blood [HA] is not a broad feature of neurological disease, and may be a specific feature of certain tremor disorders. PMID:24968164

Increased long-latency reflex activity as a sufficient explanation for childhood hypertonic dystonia: a neuromorphic emulation study

NASA Astrophysics Data System (ADS)

Sohn, Won J.; Niu, Chuanxin M.; Sanger, Terence D.

2015-06-01

Objective. Childhood dystonia is a movement disorder that interferes with daily movements and can have a devastating effect on quality of life for children and their families. Although injury to basal ganglia is associated with dystonia, the neurophysiological mechanisms leading to the clinical manifestations of dystonia are not understood. Previous work suggested that long-latency stretch reflex (LLSR) is hyperactive in children with hypertonia due to secondary dystonia. We hypothesize that abnormal activity in motor cortices may cause an increase in the LLSR leading to hypertonia. Approach. We modeled two possibilities of hyperactive LLSR by either creating a tonic involuntary drive to cortex, or increasing the synaptic gain in cortical neurons. Both models are emulated using programmable very-large-scale-integrated-circuit hardware to test their sufficiency for producing dystonic symptoms. The emulation includes a joint with two Hill-type muscles, realistic muscle spindles, and 2,304 Izhikevich-type spiking neurons. The muscles are regulated by a monosynaptic spinal pathway with 32 ms delay and a long-latency pathway with 64 ms loop-delay representing transcortical/supra-spinal connections. Main results. When the limb is passively stretched, both models produce involuntary resistance with increased antagonist EMG responses similar to human data; also the muscle relaxation is delayed similar to human data. Both models predict reduced range of motion in voluntary movements. Significance. Although our model is a highly simplified and limited representation of reflex pathways, it shows that increased activity of the LLSR is by itself sufficient to cause many of the features of hypertonic dystonia.

The Torsional Spectrum of Doubly Deuterated Methanol CHD_2OH

NASA Astrophysics Data System (ADS)

Ndao, M.; Coudert, L. H.; Kwabia Tchana, F.; Barros, J.; Margulès, L.; Manceron, Laurent; Roy, P.

2014-06-01

Although the torsional spectrum of several isotopic species of methanol with a symmetrical CH_3 or CD_3 was analyzed some time ago, it is recently, and only for the monodeuterated species CH_2DOH, that such an analysis was extended to the case of an asymmetrical methyl group. In this talk, based on a Fourier transform high-resolution spectrum recorded in the 20 to 670 wn region, the first analysis of the torsional spectrum of doubly deuterated methanol CHD_2OH will be presented. The Q branch of many torsional subbands could be observed and their assignment was initiated using a theoretical torsion-rotation spectrum computed with an approach accounting for the torsion-rotation Coriolis coupling and for the dependence of the generalized inertia tensor on the angle of internal rotation. 46 torsional subbands were thus assigned. For 28 of them, their rotational structure could be assigned and fitted using an effective Hamiltonian expressed as a J(J+1) expansion; and for 2 of them microwave transitions within the lower torsional level could also be included in the analysis. In several cases these analysis revealed that the torsional levels are strongly perturbed. In the talk, the torsional parameters retrieved in the analysis of the torsional subband centers will be discussed. The results of the analysis of the rotational structure of the torsional subbands will be presented and we will also try to understand the nature of the perturbations. At last, preliminary results about the analysis of the microwave spectrum will be presented. El Hilali, Coudert, Konov, and Klee, J. Chem. Phys. 135 (2011) 194309 Lauvergnat, Coudert, Klee, and Smirnov, J. Mol. Spectrosc. 256 (2009) 204 Quade, Liu, Mukhopadhyay, and Su, J. Mol. Spectrosc. 192 (1998) 378 Pearson, Yu, and Drouin, J. Mol. Spectrosc. 280 (2012) 119

Neutrino Oscillation in a Space-Time with Torsion

NASA Astrophysics Data System (ADS)

Alimohammadi, M.; Shariati, A.

Using Einstein-Cartan-Dirac theory, we study the effect of torsion on neutrino oscillation. We see that torsion cannot induce neutrino oscillation, but affects it whenever oscillation exists for other reasons. We show that the torsion effect on neutrino oscillation is as important as the neutrino mass effect, whenever the ratio of neutrino number density to neutrino energy is ~ 1069 cm-3/eV, or the number density of the matter is ~ 1069cm-3.

Torsion in gauge theory

NASA Astrophysics Data System (ADS)

Nieh, H. T.

2018-02-01

The potential conflict between torsion and gauge symmetry in the Riemann-Cartan curved spacetime was noted by Kibble in his 1961 pioneering paper and has since been discussed by many authors. Kibble suggested that, to preserve gauge symmetry, one should forgo the covariant derivative in favor of the ordinary derivative in the definition of the field strength Fμ ν for massless gauge theories, while for massive vector fields, covariant derivatives should be adopted. This view was further emphasized by Hehl et al. in their influential 1976 review paper. We address the question of whether this deviation from normal procedure by forgoing covariant derivatives in curved spacetime with torsion could give rise to inconsistencies in the theory, such as the quantum renormalizability of a realistic interacting theory. We demonstrate in this paper the one-loop renormalizability of a realistic gauge theory of gauge bosons interacting with Dirac spinors, such as the SU(3) chromodynamics, for the case of a curved Riemann-Cartan spacetime with totally antisymmetric torsion. This affirmative confirmation is one step toward providing justification for the assertion that the flat-space definition of the gauge-field strength should be adopted as the proper definition.

Interhemispheric difference of pallidal local field potential activity in cervical dystonia.

PubMed

Lee, Jung Ryun; Kiss, Zelma H T

2014-03-01

Cervical dystonia (CD) produces involuntary neck muscle contractions that result in abnormal and often asymmetrical postures of the head and neck. Basal ganglia oscillatory activity in the 3-12 Hz band correlating with involuntary muscle activity suggests a role in the pathophysiology of primary dystonia. Despite the asymmetrical postures seen with CD, no comparison of interhemispheric differences of pallidal local field potential (LFP) activity has been reported. The aim of this study was to examine the interhemispheric differences of LFP power in globus pallidus interna (GPi) in CD patients and compare these with their predominant head excursion identified as torticollis, laterocollis and retrocollis. LFPs were recorded from bilateral GPi in 11 patients with CD using microelectrodes during deep brain stimulation surgery. LFP power was measured in right and left GPi separately. The mean percentage of total GPi LFP power in 4-30 Hz frequency band on each brain side was determined and related to their predominant CD symptoms. Interhemispheric difference in the mean percentage of LFP power in 4-12 Hz and 13-30 Hz band frequencies was found in patients with torticollis and laterocollis regardless of excursion direction. However, patients with retrocollis did not show interhemispheric difference in LFP activity in any band frequency. Interhemispheric differences in synchronisation of pallidal LFP activity in 4-12 Hz and 13-30 Hz bands are related to the CD clinical condition, suggesting that these frequencies are important in the pathophysiology of dystonia.

Pseudotopological quasilocal energy of torsion gravity

NASA Astrophysics Data System (ADS)

Ko, Sheng-Lan; Lin, Feng-Li; Ning, Bo

2017-08-01

Torsion gravity is a natural extension to Einstein gravity in the presence of fermion matter sources. In this paper we adopt Wald's covariant method of calculating the Noether charge to construct the quasilocal energy of the Einstein-Cartan-fermion system, and find that its explicit expression is formally independent of the coupling constant between the torsion and axial current. This seemingly topological nature is unexpected and is reminiscent of the quantum Hall effect and topological insulators. However, a coupling dependence does arise when evaluating it on shell, and thus the situation is pseudotopological. Based on the expression for the quasilocal energy, we evaluate it for a particular solution on the entanglement wedge and find agreement with the holographic relative entropy obtained before. This shows the equivalence of these two quantities in the Einstein-Cartan-fermion system. Moreover, the quasilocal energy in this case is not always positive definite, and thus it provides an example of a swampland in torsion gravity. Based on the covariant Noether charge, we also derive the nonzero fermion effect on the Komar angular momentum. The implications of our results for future tests of torsion gravity in gravitational-wave astronomy are also discussed.

The vibrationally adiabatic torsional potential energy surface of trans-stilbene

NASA Astrophysics Data System (ADS)

Chowdary, Praveen D.; Martinez, Todd J.; Gruebele, Martin

2007-05-01

The effect of vibrational Zero Point Energy (ZPE) on the torsional barriers of trans-stilbene is studied in the adiabatic approximation. The two torsional modes corresponding to phenyl rotation are explicitly separated, and the remaining modes are treated as normal coordinates. ZPE reduces the adiabatic barrier along the in-phase torsion from 198 to 13 cm -1. A one-dimensional adiabatic potential for the anti-phase torsion, including the ZPE of the in-phase torsion, reduces the adiabatic barrier from 260 to 58 cm -1. Comparison with recent electronic structure benchmark calculations suggests that vibrational corrections play a significant role in trans-stilbene's experimentally observed planar structure.

Torsion sensing based on patterned piezoelectric beams

NASA Astrophysics Data System (ADS)

Cha, Youngsu; You, Hangil

2018-03-01

In this study, we investigated the sensing characteristics of piezoelectric beams under torsional loads. We used partially patterned piezoelectric beams to sense torsion. In particular, the piezoelectric patches are located symmetrically with respect to the line of the shear center of the beam. The patterned piezoelectric beam is modeled as a slender beam, and its electrical responses are obtained by piezoelectric electromechanical equations. To validate the modeling framework, experiments are performed using a setup that forces pure torsional deformation. Three different geometric configurations of the patterned piezoelectric layer are used for the experiments. The frequency and amplitude of the forced torsional load are systematically varied in order to study the behavior of the piezoelectric sensor. Experimental results demonstrate that two voltage outputs of the piezoelectric beam are approximately out of phase with identical amplitude. Moreover, the length of the piezoelectric layers has a significant influence on the sensing properties. Our theoretical predictions using the model support the experimental findings.

Web flexibility and I-beam torsional oscillation

NASA Astrophysics Data System (ADS)

Stephen, N. G.; Wang, P. J.

1986-08-01

Two recent theories on torsional oscillation of general doubly-symmetric non-circular cross-section beams incorporate a second order effect, that of in-plane shear deformation involving a change in cross-sectional shape, and are found to give excellent agreement with exact results for an elliptical section rod. For "technical" torsional oscillation theories of I-section beams this in-plane shear has previously been considered within the flanges only; in the present work the greater effect of shear distortion of the web is included, having previously been considered only in static analysis. The theory predicts three modes of wave propagation, one of which is essentially torsional in character; a second mode may be identified with predominatly flange bending according to the second branch of Timoshenko beam theory whilst a new mode involves individual flange torsion with asymmetric web deformation, and has the lowest phase velocity except at the longest wavelength. An alternative symmetric web deformation is also considered.

Effect of subthalamic nucleus deep brain stimulation on dual-task cognitive and motor performance in isolated dystonia

PubMed Central

Mills, Kelly A; Markun, Leslie C; Luciano, Marta San; Rizk, Rami; Allen, I Elaine; Racine, Caroline A; Starr, Philip A; Alberts, Jay L; Ostrem, Jill L

2015-01-01

Objective Subthalamic nucleus (STN) deep brain stimulation (DBS) can improve motor complications of Parkinson's disease (PD) but may worsen specific cognitive functions. The effect of STN DBS on cognitive function in dystonia patients is less clear. Previous reports indicate that bilateral STN stimulation in patients with PD amplifies the decrement in cognitive-motor dual-task performance seen when moving from a single-task to dual-task paradigm. We aimed to determine if the effect of bilateral STN DBS on dual-task performance in isolated patients with dystonia, who have less cognitive impairment and no dementia, is similar to that seen in PD. Methods Eight isolated predominantly cervical patients with dystonia treated with bilateral STN DBS, with average dystonia duration of 10.5 years and Montreal Cognitive Assessment score of 26.5, completed working memory (n-back) and motor (forced-maintenance) tests under single-task and dual-task conditions while on and off DBS. Results A multivariate, repeated-measures analysis of variance showed no effect of stimulation status (On vs Off) on working memory (F=0.75, p=0.39) or motor function (F=0.22, p=0.69) when performed under single-task conditions, though as working memory task difficulty increased, stimulation disrupted the accuracy of force-tracking. There was a very small worsening in working memory performance (F=9.14, p=0.019) when moving from single-task to dual-tasks when using the ‘dual-task loss’ analysis. Conclusions This study suggests the effect of STN DBS on working memory and attention may be much less consequential in patients with dystonia than has been reported in PD. PMID:25012202

Aeroelastic considerations for torsionally soft rotors

NASA Technical Reports Server (NTRS)

Mantay, W. R.; Yeager, W. T., Jr.

1985-01-01

A research study was initiated to systematically determine the impact of selected blade tip geometric parameters on conformable rotor performance and loads characteristics. The model articulated rotors included baseline and torsionally soft blades with interchangeable tips. Seven blade tip designs were evaluated on the baseline rotor and six tip designs were tested on the torsionally soft blades. The designs incorporated a systemmatic variation in geometric parameters including sweep, taper, and anhedral. The rotors were evaluated in the NASA Langley Transonic Dynamics Tunnel at several advance ratios, lift and propulsive force values, and tip Mach numbers. A track sensitivity study was also conducted at several advance ratios for both rotors. Based on the test results, tip parameter variations generated significant rotor performance and loads differences for both baseline and torsionally soft blades.

Coordination of reach-to-grasp kinematics in individuals with childhood-onset dystonia due to hemiplegic cerebral palsy

PubMed Central

Kukke, Sahana N.; Curatalo, Lindsey A.; de Campos, Ana Carolina; Hallett, Mark; Alter, Katharine E.; Damiano, Diane L.

2015-01-01

Functional reaching is impaired in dystonia. Here, we analyze upper extremity kinematics to quantify timing and coordination abnormalities during unimanual reach-to-grasp movements in individuals with childhood-onset unilateral wrist dystonia. Kinematics were measured during movements of both upper limbs in a patient group (n = 11, age = 17.5 ± 5 years), and a typically developing control group (n = 9, age = 16.6 ± 5 years). Hand aperture was computed to study the coordination of reach and grasp. Time-varying joint synergies within one upper limb were calculated using a novel technique based on principal component analysis to study intra-limb coordination. In the non-dominant arm, results indicate reduced coordination between reach and grasp in patients who could not lift the grasped object compared to those who could lift it. Lifters exhibit incoordination in distal upper extremity joints later in the movement and non-lifters lacked coordination throughout the movement and in the whole upper limb. The amount of atypical coordination correlates with dystonia severity in patients. Reduced coordination during movement may reflect deficits in the execution of simultaneous movements, motor planning, or muscle activation. Rehabilitation efforts can focus on particular time points when kinematic patterns deviate abnormally to improve functional reaching in individuals with childhood-onset dystonia. PMID:26208359

Coordination of Reach-to-Grasp Kinematics in Individuals With Childhood-Onset Dystonia Due to Hemiplegic Cerebral Palsy.

PubMed

Kukke, Sahana N; Curatalo, Lindsey A; de Campos, Ana Carolina; Hallett, Mark; Alter, Katharine E; Damiano, Diane L

2016-05-01

Functional reaching is impaired in dystonia. Here, we analyze upper extremity kinematics to quantify timing and coordination abnormalities during unimanual reach-to-grasp movements in individuals with childhood-onset unilateral wrist dystonia. Kinematics were measured during movements of both upper limbs in a patient group ( n = 11, age = 17.5 ±5 years), and a typically developing control group ( n = 9, age = 16.6 ±5 years). Hand aperture was computed to study the coordination of reach and grasp. Time-varying joint synergies within one upper limb were calculated using a novel technique based on principal component analysis to study intra-limb coordination. In the non-dominant arm, results indicate reduced coordination between reach and grasp in patients who could not lift the grasped object compared to those who could lift it. Lifters exhibit incoordination in distal upper extremity joints later in the movement and non-lifters lacked coordination throughout the movement and in the whole upper limb. The amount of atypical coordination correlates with dystonia severity in patients. Reduced coordination during movement may reflect deficits in the execution of simultaneous movements, motor planning, or muscle activation. Rehabilitation efforts can focus on particular time points when kinematic patterns deviate abnormally to improve functional reaching in individuals with childhood-onset dystonia.

A novel intronic mutation in the DDP1 gene in a family with X-linked dystonia-deafness syndrome.

PubMed

Ezquerra, Mario; Campdelacreu, Jaume; Muñoz, Esteban; Tolosa, Eduardo; Martí, María J

2005-02-01

X-linked dystonia-deafness syndrome (Mohr-Tranebjaerg syndrome) is a rare neurodegenerative disease characterized by hearing loss and dystonia. So far, 7 mutations in the coding region of the DDP1 gene have been described. They consist of frameshift, nonsense, missense mutations or deletions. To investigate the presence of mutations in the DDP1 gene in a family with dystonia-deafness syndrome. Seven members belonging to 2 generations of a family with 2 affected subjects underwent genetic analysis. Mutational screening in the DDP1 gene was made through DNA direct sequencing. We found an intronic mutation in the DDP1 gene. It consists of an A-to-C substitution in the position -23 in reference to the first nucleotide of exon 2 (IVS1-23A>C). The mutation was present in 2 affected men and their respective unaffected mothers, whereas it was absent in the healthy men from this family and in 90 healthy controls. Intronic mutations in the DDP1 gene can also cause X-linked dystonia-deafness syndrome. In our case, the effect of the mutation could be due to a splicing alteration.

Muscular Basis of Whisker Torsion in Mice and Rats.

PubMed

Haidarliu, Sebastian; Bagdasarian, Knarik; Shinde, Namrata; Ahissar, Ehud

2017-09-01

Whisking mammals move their whiskers in the rostrocaudal and dorsoventral directions with simultaneous rolling about their long axes (torsion). Whereas muscular control of the first two types of whisker movement was already established, the anatomic muscular substrate of the whisker torsion remains unclear. Specifically, it was not clear whether torsion is induced by asymmetrical operation of known muscles or by other largely unknown muscles. Here, we report that mystacial pads of newborn and adult rats and mice contain oblique intrinsic muscles (OMs) that connect diagonally adjacent vibrissa follicles. Each of the OMs is supplied by a cluster of motor end plates. In rows A and B, OMs connect the ventral part of the rostral follicle with the dorsal part of the caudal follicle. In rows C-E, in contrast, OMs connect the dorsal part of the rostral follicle to the ventral part of the caudal follicle. This inverse architecture is consistent with previous behavioral observations [Knutsen et al.: Neuron 59 (2008) 35-42]. In newborn mice, torsion occurred in irregular single twitches. In adult anesthetized rats, microelectrode mediated electrical stimulation of an individual OM that is coupled with two adjacent whiskers was sufficient to induce a unidirectional torsion of both whiskers. Torsional movement was associated with protracting movement, indicating that in the vibrissal system, like in the ocular system, torsional movement is mechanically coupled to horizontal and vertical movements. This study shows that torsional whisker rotation is mediated by specific OMs whose morphology and attachment sites determine rotation direction and mechanical coupling, and motor innervation determines rotation dynamics. Anat Rec, 300:1643-1653, 2017. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

[Effects of an hydrotherapy program in the treatment of cervical dystonia. A pilot study].

PubMed

Useros-Olmo, Ana Isabel; Collado-Vázquez, Susana

2010-12-01

Cervical dystonia may also cause limitation in articulation mobility and alteration of the balance, both accompanied with pain. AIM. To evaluate if hydrotherapy produces decrease of pain, increase in mobility and balance in patients diagnosed with cervical dystonia. A pre-post treatment pilot study was carried out without group control, with a sample of 16 patients (13 female and 3 male) diagnosed with cervical dystonia. The patients received an hydrotherapy treatment consisted of three individual sessions and three grupal sessions of aquatic exercises. In the pre-treatment phase the disability, severity and pain were evaluated by means of the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS); the balance was evaluated by means of the Get up and Go and Tinetti tests. In addition, the range of active mobility of the neck was measured with tape. The test were measured pre and post-treatment. The Student t showed a significant difference (p < 0, 01) in all the values. The range of active mobility of the neck improved in all movements: flexion (1.3 ± 1.0 cm), right lateralization (3.4 ± 1.7 cm) and left (4.0 ± 3.0 cm) and right rotation (1.6 ± 2.5 cm) and left (2.2 ± 1.5 cm). At the same time, all test improved too: Tinetti (3.0 ± 2.2), Get up and Go (2.3 ± 1.6) and TWSTRS (8.4 ± 5.4). The outcomes of this pilot study show that hydrotherapy can be related a positive influence in cervical dystonia, producing neck mobility and balance improvements and pain decrease. Future studies are necessary.

Electromyographic evidence in support of a knock-in mouse model of DYT1 Dystonia.

PubMed

DeAndrade, Mark P; Trongnetrpunya, Amy; Yokoi, Fumiaki; Cheetham, Chad C; Peng, Ning; Wyss, J Michael; Ding, Mingzhou; Li, Yuqing

2016-11-01

DYT1 dystonia is an autosomal-dominant movement disorder characterized by abnormal, often repetitive, movements and postures. Its hallmark feature is sustained or intermittent contractions of muscles involving co-contractions of antagonist muscle pairs. The symptoms are relieved with the anticholinergic drug trihexyphenidyl. The primary mutation is a trinucleotide deletion (ΔGAG) in DYT1/TOR1A, which codes for torsinA. Previous studies showed that (1) heterozygous Dyt1 ΔGAG knock-in mice, which have an analogous mutation in the endogenous gene, exhibit motor deficits and altered corticostriatal synaptic plasticity in the brain and (2) these deficits can be rescued by trihexyphenidyl. However, brain imaging studies suggest that the Dyt1 knock-in mouse models nonmanifesting mutation carriers of DYT1 dystonia. The aim of this work was to examine the hallmark features of DYT1 dystonia in the Dyt1 knock-in mice by analyzing muscular activities. Wireless telemetry devices with biopotential channels were implanted to the bicep and the rectus femori muscles in Dyt1 knock-in mice, and muscular activities were recorded before and after trihexyphenidyl administration. (1) Consistent with DYT1 dystonia patients, Dyt1 knock-in mice showed sustained contractions and co-contractions of the antagonistic bicep femoris and rectus femoris. (2) The abnormal muscle contractions were normalized by trihexyphenidyl. The results suggest that the motor deficits in Dyt1 knock-in mice are likely produced by abnormal muscle contractions, and Dyt1 knock-in mice can potentially be used as a manifesting disease model to study pathophysiology and develop novel therapeutics. © 2016 International Parkinson and Movement Disorder Society. © 2016 International Parkinson and Movement Disorder Society.

Evaluation of dystonia in children and adolescents treated with atomoxetine within the Truven MarketScan database: a retrospective cohort study.

PubMed

Meyers, Kristin J; Upadhyaya, Himanshu P; Goodloe, Robert; Kryzhanovskaya, Ludmila A; Liles-Burden, Marie A; Kellier-Steele, Nicole A; Mancini, Michele

2018-05-01

Atomoxetine is a non-stimulant drug indicated for the treatment of attention-deficit/hyperactivity disorder in children aged ≥6 years, adolescents, and adults. In this retrospective cohort study, the incidence and risk of dystonia in children and adolescents treated with atomoxetine was compared to a propensity score-matched cohort of stimulant users. Data between 1 January 2006 and 31 December 2014 from patients aged 6-17 years in the Truven Health Analytics MarketScan database were used to generate two cohorts of patients: (1) atomoxetine users and (2) stimulant (methylphenidates or amphetamines) users. A Cox proportional hazards regression model was used to compare incidence of dystonia across propensity score-matched cohorts. Of the 70,657 atomoxetine users, 70,655 users were propensity score-matched to a stimulant user. In the atomoxetine- and stimulant-treated cohorts, the crude incidence rates of dystonia were 54.9 (95% CI: 27.1-82.7) and 77.9 (95% CI: 49.1-106.8) per 100,000 person-years, respectively. The hazard ratio for occurrence of dystonia with atomoxetine use relative to stimulant use was 0.68 (95% CI: 0.36 - 1.28; P = 0.23). In this large retrospective cohort study, there was no significant difference in incidence or risk of dystonia among patients treated with atomoxetine compared to stimulants.

Torticollis (wry neck) (image)

MedlinePlus

Torticollis is a form of dystonia (prolonged muscle contractions) in which the neck muscles, particularly the sternocleidomastoid muscle, contract involuntarily causing the head to turn. Torticollis may occur without known cause (idiopathic), ...

Stereotactic ventrooralis thalamotomy for task-specific focal hand dystonia (writer's cramp).

PubMed

Taira, Takaomi; Hori, Tomokatsu

2003-01-01

Writer's cramp is a type of focal dystonia due to dysfunction of the pallido-thalamo-cortical circuit. The symptom is refractory to most conservative treatment, though botulinum toxin injection is generally used for symptomatic relief. As a surgical treatment of dystonia, we performed stereotactic nucleus ventrooralis (Vo) thalamotomy for dystonic cramp of the hand. Twelve patients (5 men, 3 women; age 26-40 years, mean 32.1 years) with medically intractable task-specific focal dystonia of the hand underwent Vo thalamotomy. The stereotactic target was chosen at the junction of the anterior and posterior Vo nuclei. The mean duration of the symptom ranged from 3 to 6 years (mean 4.5 years.) All patients had complained of difficulty in writing. Seven patients were professionals, such as a comic artist, guitarist and barber, and, because of the dystonic symptoms occurring during their work, they had stopped pursuing their profession. All patients showed immediate postoperative disappearance of dystonic symptoms, and the effect was sustained during the follow-up period (3-33 months, mean 13.1 months), except in one case. Two patients showed partial recurrence of the symptom and underwent second thalamotomy 5 months after the initial surgery with satisfactory results. The score on the writer's cramp rating scale decreased significantly (p < 0.001) after Vo thalamotomy. There were no permanent operative complications. There was no mortality or permanent morbidity. Although a longer follow-up is needed, stereotactic Vo thalamotomy is a useful and safe therapeutic option for writer's cramp. Copyright 2003 S. Karger AG, Basel

Juvenile Idiopathic Arthritis

MedlinePlus

... Is Juvenile Idiopathic Arthritis the same as Juvenile Rheumatoid Arthritis? Yes, Juvenile Idiopathic Arthritis (JIA) is a new ... of chronic inflammatory diseases that affect children. Juvenile Rheumatoid Arthritis (JRA) is the older term that was used ...

Direct torsional actuation of microcantilevers using magnetic excitation

DOE Office of Scientific and Technical Information (OSTI.GOV)

Gosvami, Nitya Nand; Nalam, Prathima C.; Tam, Qizhan

2014-09-01

Torsional mode dynamic force microscopy can be used for a wide range of studies including mapping lateral contact stiffness, torsional frequency or amplitude modulation imaging, and dynamic friction measurements of various materials. Piezo-actuation of the cantilever is commonly used, but it introduces spurious resonances, limiting the frequency range that can be sampled, and rendering the technique particularly difficult to apply in liquid medium where the cantilever oscillations are significantly damped. Here, we demonstrate a method that enables direct torsional actuation of cantilevers with high uniformity over wide frequency ranges by attaching a micrometer-scale magnetic bead on the back side ofmore » the cantilever. We show that when beads are magnetized along the width of the cantilever, efficient torsional actuation of the cantilevers can be achieved using a magnetic field produced from a solenoid placed underneath the sample. We demonstrate the capability of this technique by imaging atomic steps on graphite surfaces in tapping mode near the first torsional resonance of the cantilever in dodecane. The technique is also applied to map the variations in the lateral contact stiffness on the surface of graphite and polydiacetylene monolayers.« less

Idiopathic Intracranial Hypertension (Pseudotumor Cerebri)

MedlinePlus

... Asked Questions Español Condiciones Chinese Conditions Idiopathic Intracranial Hypertension (Pseudotumor Cerebri) En Español Read in Chinese What is idiopathic intracranial hypertension? Idiopathic intracranial hypertension (IIH) is a disorder that ...

Mechanical origins of rightward torsion in early chick brain development

NASA Astrophysics Data System (ADS)

Chen, Zi; Guo, Qiaohang; Dai, Eric; Taber, Larry

2015-03-01

During early development, the neural tube of the chick embryo undergoes a combination of progressive ventral bending and rightward torsion. This torsional deformation is one of the major organ-level left-right asymmetry events in development. Previous studies suggested that bending is mainly due to differential growth, however, the mechanism for torsion remains poorly understood. Since the heart almost always loops rightwards that the brain twists, researchers have speculated that heart looping affects the direction of brain torsion. However, direct evidence is lacking, nor is the mechanical origin of such torsion understood. In our study, experimental perturbations show that the bending and torsional deformations in the brain are coupled and that the vitelline membrane applies an external load necessary for torsion to occur. Moreover, the asymmetry of the looping heart gives rise to the chirality of the twisted brain. A computational model and a 3D printed physical model are employed to help interpret these findings. Our work clarifies the mechanical origins of brain torsion and the associated left-right asymmetry, and further reveals that the asymmetric development in one organ can induce the asymmetry of another developing organ through mechanics, reminiscent of D'Arcy Thompson's view of biological form as ``diagram of forces''. Z.C. is supported by the Society in Science - Branco Weiss fellowship, administered by ETH Zurich. L.A.T acknowledges the support from NIH Grants R01 GM075200 and R01 NS070918.

Life satisfaction of musicians with focal dystonia.

PubMed

Lee, A; Eich, C; Ioannou, C I; Altenmüller, E

2015-07-01

Little is known about the effects of musicians' dystonia (MD) on patients' life satisfaction. To assess general life satisfaction in patients with MD with regard to their health and jobs, in relation to the duration and course of the condition. We asked patients with MD and a group of healthy musicians (controls) to complete a life satisfaction questionnaire. We analysed responses from those who had to change their profession and those who did not, and we assessed life satisfaction scores in relation to the duration and the course of the condition. Of the 642 patients contacted, 295 responded (46%). We excluded 52 amateur musicians and analysed a sample of 243 patients with MD. We contacted an unknown number of healthy musicians and 57 responded. We found no differences in life satisfaction between patients and controls or between patients who had to change their profession and those who did not and no correlations between life satisfaction and the duration or the course of the disease. Musicians find a way to cope with dystonia, irrespective of the course of the disease or a change of profession. Patients should be made aware of self-regulatory mechanisms and the probability of being able to cope and be supported in selecting their goals and achieving them. © The Author 2015. Published by Oxford University Press on behalf of the Society of Occupational Medicine. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Effect of subthalamic nucleus deep brain stimulation on dual-task cognitive and motor performance in isolated dystonia.

PubMed

Mills, Kelly A; Markun, Leslie C; San Luciano, Marta; Rizk, Rami; Allen, I Elaine; Racine, Caroline A; Starr, Philip A; Alberts, Jay L; Ostrem, Jill L

2015-04-01

Subthalamic nucleus (STN) deep brain stimulation (DBS) can improve motor complications of Parkinson's disease (PD) but may worsen specific cognitive functions. The effect of STN DBS on cognitive function in dystonia patients is less clear. Previous reports indicate that bilateral STN stimulation in patients with PD amplifies the decrement in cognitive-motor dual-task performance seen when moving from a single-task to dual-task paradigm. We aimed to determine if the effect of bilateral STN DBS on dual-task performance in isolated patients with dystonia, who have less cognitive impairment and no dementia, is similar to that seen in PD. Eight isolated predominantly cervical patients with dystonia treated with bilateral STN DBS, with average dystonia duration of 10.5 years and Montreal Cognitive Assessment score of 26.5, completed working memory (n-back) and motor (forced-maintenance) tests under single-task and dual-task conditions while on and off DBS. A multivariate, repeated-measures analysis of variance showed no effect of stimulation status (On vs Off) on working memory (F=0.75, p=0.39) or motor function (F=0.22, p=0.69) when performed under single-task conditions, though as working memory task difficulty increased, stimulation disrupted the accuracy of force-tracking. There was a very small worsening in working memory performance (F=9.14, p=0.019) when moving from single-task to dual-tasks when using the 'dual-task loss' analysis. This study suggests the effect of STN DBS on working memory and attention may be much less consequential in patients with dystonia than has been reported in PD. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

Validation of the XDP-MDSP rating scale for the evaluation of patients with X-linked dystonia-parkinsonism.

PubMed

Pasco, Paul Matthew D; Jamora, Roland Dominic G; Rosales, Raymond L; Diesta, Cid Czarina E; Ng, Arlene R; Teleg, Rosalia A; Go, Criscely L; Lee, Lillian; Fernandez, Hubert H

2017-01-01

X-linked dystonia-parkinsonism(XDP) is a neurodegenerative disorder endemic to the Philippines. A rating scale was developed by the authors under the guidance of the Movement Disorder Society of the Philippines (MDSP) to assess XDP severity and progression, functional impact, and response to treatment in future clinical trials. Our main objective was to validate our new scale, the XDP-MDSP scale. The initial validation process included pragmatic testing to XDP patients followed by a modified Delphi procedure with an international advisory panel of dystonia, parkinsonism and scale development experts. Pearson correlation was used to assess construct validity of our new scale versus the assess construct validity of our new scale versus standard dystonia, parkinsonism, non-motor and functional scales; and also to assess divergent validity against behavioral and cognitive scales. The 37-item XDP-MDSP scale has five parts: I-dystonia, II-parkinsonism, III-non-motor features, IV-ADL, and V-global impression. After initial validation, the scale was administered to 204 XDP patients. Inter-domain correlation for the first four parts was acceptable. The correlation between these domains and the global rating was slightly lower. Correlations between Parts I, II, III, and IV versus standard dystonia, parkinsonism, non-motor and functional scales were acceptable with values ranging from 0.323 to 0.428. For divergent validity, a significant correlation was seen with behavioral scales. No significant correlation was noted with the cognitive scale. The proposed XDP-MDSP scale is internally valid but the global rating subscale may need to be modified or eliminated. While there is convergent validity, divergent validation was successful only on cognitive and not behavioral scales. The frequent co-occurrence of anxiety and depression, and its effect on the motor and functional state, may explain this finding.

Hypothermia-induced dystonia and abnormal cerebellar activity in a mouse model with a single disease-mutation in the sodium-potassium pump

PubMed Central

Isaksen, Toke Jost; Vedovato, Natascia; Vitenzon, Ariel; Gadsby, David C.; Khodakhah, Kamran

2017-01-01

Mutations in the neuron-specific α3 isoform of the Na+/K+-ATPase are found in patients suffering from Rapid onset Dystonia Parkinsonism and Alternating Hemiplegia of Childhood, two closely related movement disorders. We show that mice harboring a heterozygous hot spot disease mutation, D801Y (α3+/D801Y), suffer abrupt hypothermia-induced dystonia identified by electromyographic recordings. Single-neuron in vivo recordings in awake α3+/D801Y mice revealed irregular firing of Purkinje cells and their synaptic targets, the deep cerebellar nuclei neurons, which was further exacerbated during dystonia and evolved into abnormal high-frequency burst-like firing. Biophysically, we show that the D-to-Y mutation abolished pump-mediated Na+/K+ exchange, but allowed the pumps to bind Na+ and become phosphorylated. These findings implicate aberrant cerebellar activity in α3 isoform-related dystonia and add to the functional understanding of the scarce and severe mutations in the α3 isoform Na+/K+-ATPase. PMID:28472154

Juvenile idiopathic arthritis.

PubMed

Boros, Christina; Whitehead, Ben

2010-09-01

Juvenile idiopathic arthritis is the most common rheumatic disease in childhood, occurring in approximately 1:500 children. Despite a recent expansion in treatment options and improvement of outcomes, significant morbidity still occurs. This article outlines the clinical manifestations, assessment, detection of complications, treatment options and monitoring requirements, with the aid of guidelines recently published by The Royal Australian College of General Practitioners, which provide practical support for general practitioners to ensure best practice care and to prevent lifelong disability in patients with juvenile idiopathic arthritis. General practice plays an important role in the early detection, initial management and ongoing monitoring of children with juvenile idiopathic arthritis. Early detection involves understanding the classification framework for subtypes of juvenile idiopathic arthritis, and being aware of the clinical manifestations and how to look for them, through history, examination and appropriate investigation. The major extra-articular manifestations of juvenile idiopathic arthritis are uveitis and growth disturbance. Treatment options include nonsteroidal anti-inflammatory drugs, methotrexate, biologic agents, and corticosteroids. Management using a multidisciplinary approach can prevent long term sequelae. Unfortunately, approximately 50% of children will have active disease as adults.

Cyclic Axial-Torsional Deformation Behavior of a Cobalt-Base Superalloy

NASA Technical Reports Server (NTRS)

Bonacuse, Peter J.; Kalluri, Sreeramesh

1995-01-01

The cyclic, high-temperature deformation behavior of a wrought cobalt-base super-alloy, Haynes 188, is investigated under combined axial and torsional loads. This is accomplished through the examination of hysteresis loops generated from a biaxial fatigue test program. A high-temperature axial, torsional, and combined axial-torsional fatigue database has been generated on Haynes 188 at 760 C. Cyclic loading tests have been conducted on uniform gage section tubular specimens in a servohydraulic axial-torsional test rig. Test control and data acquisition were accomplished with a minicomputer. The fatigue behavior of Haynes 188 at 760 C under axial, torsional, and combined axial-torsional loads and the monotonic and cyclic deformation behaviors under axial and torsional loads have been previously reported. In this paper, the cyclic hardening characteristics and typical hysteresis loops in the axial stress versus axial strain, shear stress ,versus engineering shear strain, axial strain versus engineering shear strain. and axial stress versus shear stress spaces are presented for cyclic in-phase and out-of-phase axial-torsional tests. For in-phase tests, three different values of the proportionality constant lambda (the ratio of engineering shear strain amplitude to axial strain amplitude, are examined, viz. 0.86, 1.73, and 3.46. In the out-of-phase tests, three different values of the phase angle, phi (between the axial and engineering shear strain waveforms), are studied, viz., 30, 60, and 90 degrees with lambda equals 1.73. The cyclic hardening behaviors of all the tests conducted on Haynes 188 at 760 C are evaluated using the von Mises equivalent stress-strain and the maximum shear stress-maximum engineering shear strain (Tresca) curves. Comparisons are also made between the hardening behaviors of cyclic axial, torsional, and combined in-phase (lambda = 1.73 and phi = 0) and out-of-phase (lambda = 1.73 and phi = 90') axial-torsional fatigue tests. These comparisons

Cervical dystonia: effectiveness of a standardized physical therapy program; study design and protocol of a single blind randomized controlled trial.

PubMed

van den Dool, Joost; Visser, Bart; Koelman, J Hans T M; Engelbert, Raoul H H; Tijssen, Marina A J

2013-07-15

Cervical dystonia is characterized by involuntary muscle contractions of the neck and abnormal head positions that affect daily life activities and social life of patients. Patients are usually treated with botulinum toxin injections into affected neck muscles to relief pain and improve control of head postures. In addition, many patients are referred for physical therapy to improve their ability to perform activities of daily living. A recent review on allied health interventions in cervical dystonia showed a lack of randomized controlled intervention studies regarding the effectiveness of physical therapy interventions. The (cost-) effectiveness of a standardized physical therapy program compared to regular physical therapy, both as add-on treatment to botulinum toxin injections will be determined in a multi-centre, single blinded randomized controlled trial with 100 cervical dystonia patients. Primary outcomes are disability in daily functioning assessed with the disability subscale of the Toronto Western Spasmodic Torticollis Rating Scale. Secondary outcomes are pain, severity of dystonia, active range of motion of the head, quality of life, anxiety and depression. Data will be collected at baseline, after six months and one year by an independent blind assessor just prior to botulinum toxin injections. For the cost effectiveness, an additional economic evaluation will be performed with the costs per quality adjusted life-year as primary outcome parameter. Our study will provide new evidence regarding the (cost-) effectiveness of a standardized, tailored physical therapy program for patients with cervical dystonia. It is widely felt that allied health interventions, including physical therapy, may offer a valuable supplement to the current therapeutic options. A positive outcome will lead to a greater use of the standardized physical therapy program. For the Dutch situation a positive outcome implies that the standardized physical therapy program forms the

Determination of the Glass-Transition Temperature of GRPS and CFRPS Using a Torsion Pendulum in Regimes of Freely Damped Vibrations and Quasi-Stastic Torsion of Specimens

NASA Astrophysics Data System (ADS)

Startsev, V. O.; Lebedev, M. P.; Molokov, M. V.

2018-03-01

A method to measure the glass-transition temperature of polymers and polymeric matrices of composite materials with the help of an inverse torsion pendulum over a wide range of temperatures is considered combining the method of free torsional vibrations and a quasi-static torsion of specimens. The glass-transition temperature Tg of a KMKS-1-80. T10 fiberglass, on increasing the frequency of freely damped torsional vibrations from 0.7 to 9.6 Hz, was found to increase from 132 to 140°C. The value of Tg of these specimens, determined by measuring the work of their torsion through a small fixed angle was 128.6°C ± 0.8°C. It is shown that the use of a torsion pendulum allows one to determine the glass-transition temperature of polymeric or polymer matrices of PCMs in dynamic and quasi-static deformation regimes of specimens.

Direct observation of methyl rotor and vib-rotor states of S0 toluene: a revised torsional barrier due to torsion-vibration coupling.

PubMed

Gascooke, Jason R; Virgo, Edwina A; Lawrance, Warren D

2015-01-14

We report a two dimensional, laser induced fluorescence study of the lowest 345 cm(-1) region of S0 toluene. Methyl rotor levels of 00 up to m = 6 and of 201 up to m = 4 are observed. The rotor levels of 00 and 201 have quite different energy spacings that are well fit by a model that includes strong torsion-vibration coupling between them. The model requires that the rotor barrier height be revised from -4.84 cm(-1) (methyl hydrogens in a staggered conformation) to +1.57 cm(-1) (eclipsed conformation). However, the 3a2″ state lies below the 3a1″ state as expected for a staggered conformation due to energy shifts associated with the torsion-vibration coupling. It is shown that the rotor wave-functions exhibit little localization at the torsional energy minima. The variation in the m = 0 wavefunction probability distribution with torsional angle is shown to be very similar for the previously accepted negative V6 value and the torsion-vibration coupling model as this coupling shifts the phase of the wavefunction by 30° compared with its phase for V6 alone. The presence of a strong Δυ = ± 1 torsion-vibration coupling involving the lowest frequency vibrational mode provides a potential pathway for rapid intramolecular vibrational energy redistribution at higher energies.

Torsional osteotomies of the tibia in patellofemoral dysbalance.

PubMed

Dickschas, Jörg; Tassika, Aliki; Lutter, Christoph; Harrer, Jörg; Strecker, Wolf

2017-02-01

Anterior knee pain or patellofemoral instability is common symptom of patellofemoral dysbalance or maltracking. Tibial torsional deformities can be the reason of this pathology. After appropriate diagnostic investigation, the treatment of choice is a torsional osteotomy. This study addresses the diagnostic investigation, treatment, and the outcome of torsional osteotomies of the tibia. Does this treatment result in patellofemoral stability and provide pain relief? Forty-nine tibial torsional osteotomies were included. The major symptoms were patellofemoral instability in 19 cases and anterior knee pain in 42 cases. In addition to clinical and radiographic analysis, a torsional angle CT scan was performed pre-operatively. A visual analog scale (VAS), the Japanese Knee Society score, the Tegner activity score, and the Lysholm score were assessed pre-operatively and at the 42-month follow-up. Mean tibial external torsion was 47.4° (SD 5.41; range 37°-66°; standard value 34°). Surgical treatment consisted of an acute supratuberositary tibial internal torsional osteotomy (mean 10.8°; SD 3.01°; range 5°-18°). At the follow-up investigation, the Tegner activity score was increased 0.4 points (p value 0.014) from 3.9 (SD 1.33; range 2-7) to 4.3 (SD 1.25; range 0-7). The Lysholm score increased 26 points (SD 16.32; p value 0.001) from 66 (SD 14.94; range 32-94) to 92 (SD 9.29; range 70-100) and the Japanese Knee Society score increased 18 points (SD 14.70; p value 0.001) from 72 (SD 13.72, range 49-100) to 90 (SD 9.85, range 60-100). VAS was reduced 3.4 points (SD 2.89; p value 0.001) from 5.7 (SD 2.78; range 0-10) to 2.3 (SD 1.83; range 0-7). As regards patellofemoral instability, no redislocation occurred in the follow-up period. The results of this study show that in cases of tibial maltorsion, a torsional osteotomy can lead to patellofemoral stability and pain relief, and should be considered as a treatment option. The improved clinical scores in the present

Deep anterior cerebellar stimulation reduces symptoms of secondary dystonia in patients with cerebral palsy treated due to spasticity.

PubMed

Sokal, Paweł; Rudaś, Marcin; Harat, Marek; Szylberg, Łukasz; Zieliński, Piotr

2015-08-01

Deep anterior cerebellar stimulation (DACS) is a neuromodulation therapy of spasticity. Bilateral DACS is applied in young patients with cerebral palsy (CP). In these patients symptoms of spasticity coexist with symptoms of focal or segmental dystonia, which can cause chronic pain. We performed the study to investigate the therapeutic effects of DACS in spasticity, secondary dystonia and pain. We examined 10 from 13 patients with CP treated with DACS due to spasticity in years 2006-2012. We compared Ashworth scores of spasticity, VAS scale of pain and UDRS (Unified Dystonia Rating Scale) score before DACS and after it in follow-up lasting from 2 to 11 years it in these patients basing on clinical examination and evaluating forms given by the patients or parents. We received statistically significant reduction of spasticity in upper extremities (median: from 3 to 1,5 in Ashworth scale) in 8 patients (p = 0,01), in lower extremities in 7 patients (median: from 3 to 1,75) (p = 0,02). Symptoms of focal dystonia were reduced. Total score for the UDRS (median = 18,0 before surgery) after DACS decreased significantly (median = 10,3) (p = 0,043). Change in consecutive parts of UDRS before (median = 1,6) and after (median = 1,0) surgery in 7 patients had statistical significance (p = 0,0179). There were not significant changes in intensity of pain before and after surgery (p = 0,108). Chronic bilateral DACS aimed for spasticity treatment not only decreases muscular tone in quadriplegic or paraplegic patients with CP but also is associated with reduction of symptoms of focal or segmental, secondary dystonia. Copyright © 2015 Elsevier B.V. All rights reserved.

Humeral torsion revisited: a functional and ontogenetic model for populational variation.

PubMed

Cowgill, Libby W

2007-12-01

Anthropological interest in humeral torsion has a long history, and several functional explanations for observed variation in the orientation of the humeral head have been proposed. Recent clinical studies have revived this topic by linking patterns of humeral torsion to habitual activities such as overhand throwing. However, the precise functional implications and ontogenetic history of humeral torsion remain unclear. This study examines the ontogeny of humeral torsion in a large sample of primarily immature remains from six different skeletal collections (n = 407). The results of this research confirm that humeral torsion displays consistent developmental variation within all populations of growing children; neonates display relatively posteriorly oriented humeral heads, and the level of torsion declines steadily into adulthood. As in adults, variation in the angle of humeral torsion in immature individuals varies by population, and these differences arise early in development. However, when examined in the context of the developing muscles of the shoulder complex, it becomes apparent that variation in the angle of humeral torsion is not necessarily related to specific habitual activities. Variability in this feature is more likely caused by a generalized functional imbalance between muscles of medial and lateral rotation that can be produced by a wide variety of upper limb activity patterns during growth. (c) 2007 Wiley-Liss, Inc.

Should Torsion Balance Technique Continue to be Taught to Pharmacy Students?

PubMed

Bilger, Rhonda; Chereson, Rasma; Salama, Noha Nabil

2017-06-01

Objective. To determine the types of balances used in compounding pharmacies: torsion or digital. Methods. A survey was mailed to the pharmacist-in-charge at 698 pharmacies, representing 47% of the pharmacies in Missouri as of July 2013. The pharmacies were randomly selected and stratified by region into eight regions to ensure a representative sample. Information was gathered regarding the type and use of balances and pharmacists' perspectives on the need to teach torsion balance technique to pharmacy students. Results. The response rate for the survey was 53.3%. Out of the total responses received, those pharmacies having a torsion balance, digital balance or both were 46.8%, 27.4% and 11.8%, respectively. About 68.3% of respondents compound prescriptions. The study showed that 52% of compounding pharmacies use torsion balances in their practice. Of those with a balance in their pharmacy, 65.6% favored continuation of torsion balance instruction. Conclusions. Digital balances have become increasingly popular and have replaced torsion balances in some pharmacies, especially those that compound a significant number of prescriptions. The results of this study indicate that torsion balances remain integral to compounding practice. Therefore, students should continue being taught torsion balance technique at the college.

Should Torsion Balance Technique Continue to be Taught to Pharmacy Students?

PubMed Central

Bilger, Rhonda; Chereson, Rasma

2017-01-01

Objective. To determine the types of balances used in compounding pharmacies: torsion or digital. Methods. A survey was mailed to the pharmacist-in-charge at 698 pharmacies, representing 47% of the pharmacies in Missouri as of July 2013. The pharmacies were randomly selected and stratified by region into eight regions to ensure a representative sample. Information was gathered regarding the type and use of balances and pharmacists’ perspectives on the need to teach torsion balance technique to pharmacy students. Results. The response rate for the survey was 53.3%. Out of the total responses received, those pharmacies having a torsion balance, digital balance or both were 46.8%, 27.4% and 11.8%, respectively. About 68.3% of respondents compound prescriptions. The study showed that 52% of compounding pharmacies use torsion balances in their practice. Of those with a balance in their pharmacy, 65.6% favored continuation of torsion balance instruction. Conclusions. Digital balances have become increasingly popular and have replaced torsion balances in some pharmacies, especially those that compound a significant number of prescriptions. The results of this study indicate that torsion balances remain integral to compounding practice. Therefore, students should continue being taught torsion balance technique at the college. PMID:28720913

Vocal cord paralysis: What matters between idiopathic and non-idiopathic cases?

PubMed

Özbal Koç, Ayça Eltaf; Türkoğlu, Seda Babakurban; Erol, Ozan; Erbek, Selim

2016-01-01

This study aims to evaluate the demographic and clinical characteristics of patients with idiopathic and non-idiopathic vocal cord paralysis (VCP). This retrospective cohort was performed on data extracted from medical files of 92 consecutive patients (43 males, 49 females; median age 52.1±23.1 years; min. 1 - max. 87) with VCP diagnosed in the otorhinolaryngology department between April 2012 and December 2015. Diagnoses associated with VCP, side of involvement (right, left or bilateral) and previous medical histories were noted and compared between patients with idiopathic and non-idiopathic VCP. Vocal cord paralysis occurred on the left side (n=56, 60.9%), right side (n=28, 30.4%) or bilaterally (n=8, 8.7%). A clinical entity related with VCP was identified in 63 patients (68.5%), while 29 (31.5%) patients had idiopathic VCP. Most common etiologies for VCP were thyroid surgery (n=32, 34.8%), cardiovascular surgery (n=9, 9.8%), lung cancer (n=6, 6.5%) and cardiac anomalies (n=4, 4.3%), respectively. Patients with idiopathic VCP were significantly older (p<0.001), while gender distribution (p=0.121) and side of involvement (p=0.340) did not differ between two groups. Vocal cord paralysis is a relatively common clinical entity with substantial rate of morbidity. Identification of the underlying etiology and awareness on the clinical characteristics are keystones for foreseeing complications and determining the appropriate therapeutic modality.

Complete body-neck torsion of the gallbladder: a case report.

PubMed

Pu, Ta-Wei; Fu, Chun-Yu; Lu, Huai-En; Cheng, Wei-Tung

2014-10-14

Gallbladder torsion is a rare, acute abdominal disease. It was first reported by Wendell in 1898. Since then, only 500 cases have been reported. Gallbladder torsion occurs in all age groups, although it usually appears in the latter stages of life. The occurrence ratio between women and men is 3:1. Most cases are diagnosed during surgery. The main treatment is surgical detorsion and cholecystectomy. Despite progress in radiologic imaging diagnosis, it is not easy to obtain a precise preoperative diagnosis of gallbladder torsion. In previous reports, only 9.8% of all gallbladder torsion cases were diagnosed preoperatively. We present a case of acute body-neck gallbladder torsion in an elderly man, and we review the radiologic findings of magnetic resonance imaging, computed tomography, and ultrasonography. The radiologic findings in the present case were helpful in obtaining a preoperative diagnosis of gallbladder torsion. The diagnosis was confirmed by T2-weighted magnetic resonance images, which showed an intra-gallbladder segment located between the body and neck of the gallbladder, with a notable crease within this segment.

Thalamic Deep Brain Stimulation for Writer's Cramp.

PubMed

Cho, Chul Bum; Park, Hae Kwan; Lee, Kyung Jin; Rha, Hyoung Kyun

2009-07-01

Writer's cramp is a type of idiopathic focal hand dystonia characterized by muscle cramps that accompany execution of the writing task specifically. There has been renewed interest in neurosurgical procedures for the treatment of dystonia over the past several years. In particular, deep brain stimulation (DBS) has received increasing attention as a therapeutic option for patients with dystonia. However, to date, limited reporters made investigations into DBS in relation to the Writer's cramp. In this case, unilateral Ventro-oralis complex (Vo) DBS resulted in a major improvement in patient's focal dystonic movement disorders. Her post-operative Burke-Fahn-Marsden Dystonia Rating (BFMDR) scale demonstrated 1 compared with pre-operative BFMDR scale 4. We conclude that thalamic Vo complex DBS may be an important neurosurgical therapeutic option for Writer's cramp.

Idiopathic hypersomnia.

PubMed

Billiard, Michel; Sonka, Karel

2016-10-01

Idiopathic hypersomnia continues to evolve from the concept of "sleep drunkenness" introduced by Bedrich Roth in Prague in 1956 and the description of idiopathic hypersomnia with two forms, polysymptomatic and monosymptomatic, by the same Bedrich Roth in 1976. The diagnostic criteria of idiopathic hypersomnia have varied with the successive revisions of the International classifications of sleep disorders, including the recent 3rd edition. No epidemiological studies have been conducted so far. Disease onset occurs most often during adolescence or young adulthood. A familial background is often present but rigorous studies are still lacking. The key manifestation is hypersomnolence. It is often accompanied by sleep of long duration and debilitating sleep inertia. Polysomnography (PSG) followed by a multiple sleep latency test (MSLT) is mandatory, as well as a 24 h PSG or a 2-wk actigraphy in association with a sleep log to ensure a total 24-h sleep time longer than or equal to 66O minutes, when the mean sleep latency on the MSLT is longer than 8 min. Yet, MSLT is neither sensitive nor specific and the polysomnographic diagnostic criteria require continuous readjustment and biologic markers are still lacking. Idiopathic hypersomnia is most often a chronic condition though spontaneous remission may occur. The condition is disabling, sometimes even more so than narcolepsy type 1 or 2. Based on neurochemical, genetic and immunological analyses as well as on exploration of the homeostatic and circadian processes of sleep, various pathophysiological hypotheses have been proposed. Differential diagnosis involves a number of diseases and it is not yet clear whether idiopathic hypersomnia and narcolepsy type 2 are not the same condition. Until now, the treatment of idiopathic hypersomnia has mirrored that of the sleepiness of narcolepsy type 1 or 2. The first randomized, double-blind, placebo-controlled trials of modafinil have just been published, as well as a double

Experimental investigation of cyclic thermomechanical deformation in torsion

NASA Technical Reports Server (NTRS)

Ellis, John R.; Castelli, Michael G.; Bakis, Charles E.

1992-01-01

An investigation of thermomechanical testing and deformation behavior of tubular specimens under torsional loading is described. Experimental issues concerning test accuracy and control specific to thermomechanical loadings under a torsional regime are discussed. A series of shear strain-controlled tests involving the nickel-base superalloy Hastelloy X were performed with various temperature excursions and compared to similar thermomechanical uniaxial tests. The concept and use of second invariants of the deviatoric stress and strain tensors as a means of comparing uniaxial and torsional specimens is also briefly presented and discussed in light of previous thermomechanical tests conducted under uniaxial conditions.

Leiomyomatosis peritonealis disseminata presenting as omental torsion.

PubMed

Tan, Chjoong Howe Alvin; Ho, Bernard Chi Shern; Shelat, Vishalkumar; Tan, Cher Heng

2012-04-01

Leiomyomatosis peritonealis disseminata is usually asymptomatic or mimics widespread malignancy; acute presentation is rare. We describe a patient with right iliac fossa and lower abdominal pain. Two masses were detected via computed tomography, but at surgery, one of these implanted leiomyomas had undergone acute omental torsion. This case illustrates a rare complication of omental leiomyoma torsion clinically mimicking acute appendicitis.

Chiral dynamos and magnetogenesis induced by torsionful Maxwell-Chern Simons electrodynamics

NASA Astrophysics Data System (ADS)

de Andrade, L. C. Garcia

2018-03-01

Recently chiral anomalous currents have been investigated by Boyarsky et al. and Brandenburg et al. with respect to applications to the early universe. In this paper we show that these magnetic field anomalies, which can give rise to dynamo magnetic field amplification can also be linked to spacetime torsion through the use of a chemical potential and Maxwell electrodynamics with torsion firstly proposed by de Sabbata and Gasperini. When the axial torsion is constant this electrodynamics acquires the form of a Maxwell-Chern-Simmons (MCS) equations where the chiral current appears naturally and the zero component of torsion plays the role of a chemical potential, while the other components play the role of anisotropic conductivity. The chiral dynamo equation in torsionful spacetime is derived here from MSC electrodynamics. Here we have used a recently derived a torsion LV bound of T0˜ {10^{-26}} GeV and the constraint that this chiral magnetic field is a seed for galactic dynamo. This estimate is weaker than the one obtained from the chiral battery seed of ˜ {10^{30}} G without making use of Cartan torsion. The torsion obtained here was derived at 500 pc coherence scale. When a chiral MF is forced to seed a galactic dynamo one obtains a yet weaker MF, of the order of B˜ {10^{12}} G, which is the value of a MF at nucleosynthesis. By the use of chiral dynamo equations from parity-violating torsion one obtains a seed field of B˜ {10^{27}} G, which is a much stronger MF closer to the one obtained by making use of chiral batteries. Chiral vortical currents in non-Riemannian spacetimes derived in Riemannian spaces previously by Flaschi and Fukushima are extended to include minimal coupling with torsion. The present universe yields B˜ {10^{-24}} G, still sufficient to seed galactic dynamos.

Increased sensorimotor network activity in DYT1 dystonia: a functional imaging study

PubMed Central

Argyelan, Miklos; Habeck, Christian; Ghilardi, M. Felice; Fitzpatrick, Toni; Dhawan, Vijay; Pourfar, Michael; Bressman, Susan B.; Eidelberg, David

2010-01-01

Neurophysiological studies have provided evidence of primary motor cortex hyperexcitability in primary dystonia, but several functional imaging studies suggest otherwise. To address this issue, we measured sensorimotor activation at both the regional and network levels in carriers of the DYT1 dystonia mutation and in control subjects. We used 15Oxygen-labelled water and positron emission tomography to scan nine manifesting DYT1 carriers, 10 non-manifesting DYT1 carriers and 12 age-matched controls while they performed a kinematically controlled motor task; they were also scanned in a non-motor audio-visual control condition. Within- and between-group contrasts were analysed with statistical parametric mapping. For network analysis, we first identified a normal motor-related activation pattern in a set of 39 motor and audio-visual scans acquired in an independent cohort of 18 healthy volunteer subjects. The expression of this pattern was prospectively quantified in the motor and control scans acquired in each of the gene carriers and controls. Network values for the three groups were compared with ANOVA and post hoc contrasts. Voxel-wise comparison of DYT1 carriers and controls revealed abnormally increased motor activation responses in the former group (P < 0.05, corrected; statistical parametric mapping), localized to the sensorimotor cortex, dorsal premotor cortex, supplementary motor area and the inferior parietal cortex. Network analysis of the normative derivation cohort revealed a significant normal motor-related activation pattern topography (P < 0.0001) characterized by covarying neural activity in the sensorimotor cortex, dorsal premotor cortex, supplementary motor area and cerebellum. In the study cohort, normal motor-related activation pattern expression measured during movement was abnormally elevated in the manifesting gene carriers (P < 0.001) but not in their non-manifesting counterparts. In contrast, in the non-motor control condition, abnormal

Multiday Transcranial Direct Current Stimulation Causes Clinically Insignificant Changes in Childhood Dystonia: A Pilot Study.

PubMed

Bhanpuri, Nasir H; Bertucco, Matteo; Young, Scott J; Lee, Annie A; Sanger, Terence D

2015-10-01

Abnormal motor cortex activity is common in dystonia. Cathodal transcranial direct current stimulation may alter cortical activity by decreasing excitability while anodal stimulation may increase motor learning. Previous results showed that a single session of cathodal transcranial direct current stimulation can improve symptoms in childhood dystonia. Here we performed a 5-day, sham-controlled, double-blind, crossover study, where we measured tracking and muscle overflow in a myocontrol-based task. We applied cathodal and anodal transcranial direct current stimulation (2 mA, 9 minutes per day). For cathodal transcranial direct current stimulation (7 participants), 3 subjects showed improvements whereas 2 showed worsening in overflow or tracking error. The effect size was small (about 1% of maximum voluntary contraction) and not clinically meaningful. For anodal transcranial direct current stimulation (6 participants), none showed improvement, whereas 5 showed worsening. Thus, multiday cathodal transcranial direct current stimulation reduced symptoms in some children but not to a clinically meaningful extent, whereas anodal transcranial direct current stimulation worsened symptoms. Our results do not support transcranial direct current stimulation as clinically viable for treating childhood dystonia. © The Author(s) 2015.

The Rotation-Torsion Spectrum of CH_2DOH

NASA Astrophysics Data System (ADS)

Hilali, A. El; Coudert, L. H.; Margulès, L.; Motiyenko, R.; Klee, S.

2010-06-01

Due to the asymmetry of the CH_2D group, the internal rotation problem in the partially deuterated species of methanol CH_2DOH is a complicated one as, unlike in the normal species CH_3OH, the inertia tensor depends on the angle of internal rotation. The CH_2DOH species also displays a dense far infrared torsional spectrum difficult to assign. Recently 38 torsional subbands of CH_2DOH have been identified, but for most of them there is neither an assignment nor an analysis of their rotational structure. In this paper an analysis of the rotation-torsion spectrum of CH_2DOH will be presented. The rotational structure of 23 torsional subbands have been assigned. These subbands are Δ v_t &ge 1 perpendicular subbands with a value of v'_t up to 10b and values of K' and K'' ranging from 0 to 9. For all subbands, the Q-branch was assigned, for 3 subbands, the R- and P-branches could also be found. The results of the rotational analysis with an expansion in J(J+1) of the new subbands and of already observed ones will be presented. When available, microwave lines within the lower torsional level, recorded in this work or already measured, were added to the data set. A theoretical approach aimed at calculating the rotation-torsion energy levels has also been developed. It is based on an expansion in terms of rotation-torsion operators with C_s symmetry and accounts for the dependence of the inertia tensor on the angle of internal rotation. This approach will be used to carry out a preliminary global analyses of the wavenumbers and of the frequencies. Lauvergnat, Coudert, Klee, and Smirnov, J. Mol. Spec. 256 (2009) 204. Quade, Liu, Mukhopadhyay, and Su, J. Mol. Spec. 192 (1998) 378; Mukhopadhyay, J. Mol. Struct. 695-696 (2004) 357. Liu and Quade, J. Mol. Spec. 146 (1991) 252 Mukhopadhyay et al., J. Chem. Phys. 116 (2002) 3710.

Torsion-rotation intensities in methanol

NASA Astrophysics Data System (ADS)

Pearson, John

Methanol exists in numerous kinds of astronomical objects featuring a wide range of local conditions. The light nature of the molecule coupled with the internal rotation of the methyl group with respect to the hydroxyl group results in a rich, strong spectrum that spans the entire far-infrared region. As a result, any modest size observational window will have a number of strong methanol transitions. This has made it the gas of choice for testing THz receivers and to extract the local physical conditions from observations covering small frequency windows. The latter has caused methanol to be dubbed the Swiss army knife of astrophysics. Methanol has been increasingly used in this capacity and will be used even more for subsequent investigations into the Herschel archive, and with SOFIA and ALMA. Interpreting physical conditions on the basis of a few methanol lines requires that the molecular data, line positions, intensities, and collision rates, be complete, consistent and accurate to a much higher level than previously required for astrophysics. The need for highly reliable data is even more critical for modeling the two classes of widespread maser action and many examples of optical pumping through the torsional bands. Observation of the torsional bands in the infrared will be a unique opportunity to directly connect JWST observations with those of Herschel, SOFIA, and ALMA. The theory for the intensities of torsion-rotation transitions in a molecule featuring a single internally rotating methyl group is well developed after 70 years of research. However, other than a recent very preliminary and not completely satisfactory investigation of a few CH3OH torsional bands, this theory has never been experimentally tested for any C3V internal rotor. More alarming is a set of recent intensity calibrated microwave measurements that showed deviations relative to calculations of up to 50% in some ground state rotational transitions commonly used by astronomers to extract

"ATP1A3" Mutations in Infants: A New Rapid-Onset Dystonia-Parkinsonism Phenotype Characterized by Motor Delay and Ataxia

ERIC Educational Resources Information Center

Brashear, Allison; Mink, Jonathan W.; Hill, Deborah F.; Boggs, Niki; McCall, W. Vaughn; Stacy, Mark A.; Snively, Beverly; Light, Laney S.; Sweadner, Kathleen J.; Ozelius, Laurie J.; Morrison, Leslie

2012-01-01

We report new clinical features of delayed motor development, hypotonia, and ataxia in two young children with mutations (R756H and D923N) in the "ATP1A3" gene. In adults, mutations in "ATP1A3" cause rapid-onset dystonia-Parkinsonism (RDP, DYT12) with abrupt onset of fixed dystonia. The parents and children were examined and videotaped, and…

Cumulative Axial and Torsional Fatigue: An Investigation of Load-Type Sequencing Effects

NASA Technical Reports Server (NTRS)

Kalluri, Sreeramesh; Bonacuse, Peter J.

2000-01-01

Cumulative fatigue behavior of a wrought cobalt-base superalloy, Haynes 188 was investigated at 538 C under various single-step sequences of axial and torsional loading conditions. Initially, fully-reversed, axial and torsional fatigue tests were conducted under strain control at 538 C on thin-walled tubular specimens to establish baseline fatigue life relationships. Subsequently, four sequences (axial/axial, torsional/torsional, axial/torsional, and torsional/axial) of two load-level fatigue tests were conducted to characterize both the load-order (high/low) and load-type sequencing effects. For the two load-level tests, summations of life fractions and the remaining fatigue lives at the second load-level were computed by the Miner's Linear Damage Rule (LDR) and a nonlinear Damage Curve Approach (DCA). In general, for all four cases predictions by LDR were unconservative. Predictions by the DCA were within a factor of two of the experimentally observed fatigue lives for a majority of the cumulative axial and torsional fatigue tests.

The relationship of dystonia and choreoathetosis with activity, participation and quality of life in children and youth with dyskinetic cerebral palsy.

PubMed

Monbaliu, Elegast; De Cock, Paul; Mailleux, Lisa; Dan, Bernard; Feys, Hilde

2017-03-01

To relate dystonia and choreoathetosis with activity, participation and quality of life (QOL) in children and youth with dyskinetic Cerebral Palsy (CP). Fifty-four participants with dyskinetic CP (mean age 14y6m, SD 4y2m, range 6-22y) were included. The Dyskinesia Impairment Scale (DIS) was used to evaluate dystonia and choreoathetosis. Activity, participation and quality of life (QOL) were assessed with the Gross Motor Function Measure (GMFM), the Functional Mobility Scale (FMS), the Jebsen-Taylor Hand Function Test (JTT), the ABILHAND-Kids Questionnaire (ABIL-K), the Life Habits Kids (LIFE-H) and the Quality of Life Questionnaire for children with CP (CP-QOL). Spearman's rank correlation coefficient (r s ) was used to assess the relationship between the movement disorders and activity, participation and QOL measures. Significant negative correlations were found between dystonia and the activity scales with Spearman's rank correlation coefficient (r s ) varying between -0.65 (95% CI = -0.78 to -0.46) and -0.71 (95% CI = -0,82 to -0.55). Correlations were also found with the LIFE-H (r s  = -0.43; 95%CI = -0.64 to -0.17) and the CP-QOL (r s  = -0.32; 95%CI = -0.56 to -0.03). As far as choreoathetosis is concerned, no or only weak relationships were found with the activity, participation and quality of life scales. This cross-sectional study is the first to examine the relationship of dystonia and choreoathetosis in dyskinetic CP with the level of activity, participation and QOL. The results revealed dystonia has a higher impact on activity, participation and quality of life than choreoathetosis. These findings seem to suggest it is necessary to first focus on dystonia reducing intervention strategies and secondly on choreoathetosis. Copyright © 2016 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

Planar torsion spring

NASA Technical Reports Server (NTRS)

Ihrke, Chris A. (Inventor); Parsons, Adam H. (Inventor); Mehling, Joshua S. (Inventor); Griffith, Bryan Kristian (Inventor)

2012-01-01

A torsion spring comprises an inner mounting segment. An outer mounting segment is located concentrically around the inner mounting segment. A plurality of splines extends from the inner mounting segment to the outer mounting segment. At least a portion of each spline extends generally annularly around the inner mounting segment.

Memantine-induced chorea and dystonia.

PubMed

Borges, Letizia Goncalves; Bonakdarpour, Borna

2017-04-01

Memantine is an uncompetitive N -methyl-d-aspartate receptor antagonist and probably also has an indirect dopaminergic action at high concentrations. We describe a person with Alzheimer's disease who developed chorea and dystonia after inadvertently doubling of her daily dose by taking extended-release (XR) memantine twice daily, rather than once daily (planned dose memantine XR, 21 mg once daily), after the drug was switched from immediate release (IR, 10 mg twice daily). Memantine is rarely associated with movement disorders, but this case emphasises the need for awareness of potential problems when switching from memantine IR to XR. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

kinesiotaping reduces pain and modulates sensory function in patients with focal dystonia: a randomized crossover pilot study.

PubMed

Pelosin, Elisa; Avanzino, Laura; Marchese, Roberta; Stramesi, Paola; Bilanci, Martina; Trompetto, Carlo; Abbruzzese, Giovanni

2013-10-01

Pain is one of the most common and disabling "nonmotor" symptoms in patients with dystonia. No recent study evaluated the pharmacological or physical therapy approaches to specifically treat dystonic pain symptoms. To evaluate the effectiveness of KinesioTaping in patients with cervical dystonia (CD) and focal hand dystonia (FHD) on self-reported pain (primary objective) and on sensory functions (secondary objective). Twenty-five dystonic patients (14 with CD and 11 FHD) entered a randomized crossover pilot study. The patients were randomized to 14-day treatment with KinesioTaping or ShamTaping over neck (in CD) or forearm muscles (in FHD), and after a 30-day washout period, they received the other treatment. The were 3 visual analog scales (VASs) for usual pain, worst pain, and pain relief. Disease severity changes were evaluated by means of the Toronto Western Spasmodic Torticollis Rating Scale (CD) and the Writer's Cramp Rating Scale (FHD). Furthermore, to investigate possible KinesioTaping-induced effects on sensory functions, we evaluated the somatosensory temporal discrimination threshold. Treatment with KinesioTape induced a decrease in the subjective sensation of pain and a modification in the ability of sensory discrimination, whereas ShamTaping had no effect. A significant, positive correlation was found in both groups of patients between the improvement in the subjective sensation of pain and the reduction of somatosensory temporal discrimination threshold values induced by KinesioTaping. These preliminary results suggest that KinesioTaping may be useful in treating pain in patients with dystonia.

Torsion Bounds from CP Violation α2-DYNAMO in Axion-Photon Cosmic Plasma

NASA Astrophysics Data System (ADS)

Garcia de Andrade, L. C.

Years ago Mohanty and Sarkar [Phys. Lett. B 433, 424 (1998)] have placed bounds on torsion mass from K meson physics. In this paper, associating torsion to axions a la Campanelli et al. [Phys. Rev. D 72, 123001 (2005)], it is shown that it is possible to place limits on spacetime torsion by considering an efficient α2-dynamo CP violation term. Therefore instead of Kostelecky et al. [Phys. Rev. Lett. 100, 111102 (2008)] torsion bounds from Lorentz violation, here torsion bounds are obtained from CP violation through dynamo magnetic field amplification. It is also shown that oscillating photon-axion frequency peak is reduced to 10-7 Hz due to torsion mass (or Planck mass when torsion does not propagate) contribution to the photon-axion-torsion action. Though torsion does not couple to electromagnetic fields at classical level, it does at the quantum level. Recently, Garcia de Andrade [Phys. Lett. B 468, 28 (2011)] has shown that the photon sector of Lorentz violation (LV) Lagrangian leads to linear nonstandard Maxwell equations where the magnetic field decays slower giving rise to a seed for galactic dynamos. Torsion constraints of the order of K0≈10-42 GeV can be obtained which are more stringent than the value obtained by Kostelecky et al. A lower bound for the existence of galactic dynamos is obtained for torsion as K0≈10-37 GeV.

Clinical outcome and intraoperative neurophysiology for focal limb dystonic tremor without generalized dystonia treated with deep brain stimulation.

PubMed

Ramirez-Zamora, Adolfo; Kaszuba, Brian; Gee, Lucy; Prusik, Julia; Molho, Eric; Wilock, Meghan; Shin, Damian; Pilitsis, Julie G

2016-11-01

Dystonic tremor (DT) is defined as a postural/kinetic tremor occurring in the body region affected by dystonia. DT is typically characterized by focal tremors with irregular amplitudes and variable frequencies typically below 7Hz. Pharmacological treatment is generally unsuccessful and guidelines for deep brain stimulation (DBS) targeting and indications are scarce. In this article, we present the outcome and neurophysiologic data of two patients with refractory, focal limb DT treated with Globus Pallidus interna (Gpi) DBS and critically review the current literature regarding surgical treatment of DT discussing stereotactic targets and treatment considerations. A search of literature concerning treatment of DT was conducted. Additionally, Gpi DBS was performed in two patients with DT and microelectrode recordings for multi unit analysis (MUAs) and local field potentials (LFPs) were obtained. The mean percentage improvement in tremor severity was 80.5% at 3 years follow up. MUAs and LFPs did not show significant differences in DT patients compared with other forms of dystonia or PD except for higher interspikes bursting indices. LFP recordings in DT demonstrated high power at low frequencies with action (<3.5Hz). Gpi DBS is an effective treatment in patients with focal limb DT without associated generalized dystonia. Intraoperative neurophysiologic findings suggest that DT is part of phenotypic motor manifestations in dystonia. Copyright © 2016 Elsevier B.V. All rights reserved.

Standardized education and parental awareness are lacking for testicular torsion.

PubMed

Friedman, Ariella A; Ahmed, Haris; Gitlin, Jordan S; Palmer, Lane S

2016-06-01

Testicular torsion leads to orchiectomy in 30-50% of cases, which may cause psychological upset and parental guilt over a potentially avertable outcome. Presentation delay is an important modifiable cause of orchiectomy; yet, families are not routinely educated about torsion or its urgency. The present study assessed parental knowledge regarding acute scrotal pain. An anonymous survey was distributed to parents in Urology and ENT offices, asking about their children's gender and scrotal pain history, urgency of response to a child's acute scrotal pain, and familiarity with testicular torsion. Surveys of 479 urology and 59 ENT parents were analyzed. The results between the two were not statistically different. Among the urology parents, 34% had heard of testicular twisting/torsion, most commonly through friends, relatives or knowing someone with torsion (35%); only 17% were informed by pediatricians (Summary Figure). Parents presenting for a child's scrotal pain were significantly more likely to have heard of torsion (69%) than those presenting for other reasons (30%, OR 5.24, P < 0.0001). Only 13% of parents of boys had spoken with their children about torsion. Roughly three quarters of them would seek emergent medical attention - by day (75%) or night (82%) - for acute scrotal pain. However, urgency was no more likely among those who knew about torsion. This was the first study to assess parental knowledge of the emergent nature of acute scrotal pain in a non-urgent setting, and most closely approximating their level of knowledge at the time of pain onset. It also assessed parents' hypothetical responses to the scenario, which was markedly different than documented presentation times, highlighting a potential area for improvement in presentation times. Potential limitations included lack of respondent demographic data, potential sampling bias of a population with greater healthcare knowledge or involvement, and assessment of parents only. Parental knowledge of

Cervical dystonia: effectiveness of a standardized physical therapy program; study design and protocol of a single blind randomized controlled trial

PubMed Central

2013-01-01

Background Cervical dystonia is characterized by involuntary muscle contractions of the neck and abnormal head positions that affect daily life activities and social life of patients. Patients are usually treated with botulinum toxin injections into affected neck muscles to relief pain and improve control of head postures. In addition, many patients are referred for physical therapy to improve their ability to perform activities of daily living. A recent review on allied health interventions in cervical dystonia showed a lack of randomized controlled intervention studies regarding the effectiveness of physical therapy interventions. Methods/design The (cost-) effectiveness of a standardized physical therapy program compared to regular physical therapy, both as add-on treatment to botulinum toxin injections will be determined in a multi-centre, single blinded randomized controlled trial with 100 cervical dystonia patients. Primary outcomes are disability in daily functioning assessed with the disability subscale of the Toronto Western Spasmodic Torticollis Rating Scale. Secondary outcomes are pain, severity of dystonia, active range of motion of the head, quality of life, anxiety and depression. Data will be collected at baseline, after six months and one year by an independent blind assessor just prior to botulinum toxin injections. For the cost effectiveness, an additional economic evaluation will be performed with the costs per quality adjusted life-year as primary outcome parameter. Discussion Our study will provide new evidence regarding the (cost-) effectiveness of a standardized, tailored physical therapy program for patients with cervical dystonia. It is widely felt that allied health interventions, including physical therapy, may offer a valuable supplement to the current therapeutic options. A positive outcome will lead to a greater use of the standardized physical therapy program. For the Dutch situation a positive outcome implies that the standardized

Disruption of Protein Processing in the Endoplasmic Reticulum of DYT1 Knock-in Mice Implicates Novel Pathways in Dystonia Pathogenesis.

PubMed

Beauvais, Genevieve; Bode, Nicole M; Watson, Jaime L; Wen, Hsiang; Glenn, Kevin A; Kawano, Hiroyuki; Harata, N Charles; Ehrlich, Michelle E; Gonzalez-Alegre, Pedro

2016-10-05

Dystonia type 1 (DYT1) is a dominantly inherited neurological disease caused by mutations in TOR1A, the gene encoding the endoplasmic reticulum (ER)-resident protein torsinA. Previous work mostly completed in cell-based systems suggests that mutant torsinA alters protein processing in the secretory pathway. We hypothesized that inducing ER stress in the mammalian brain in vivo would trigger or exacerbate mutant torsinA-induced dysfunction. To test this hypothesis, we crossed DYT1 knock-in with p58(IPK)-null mice. The ER co-chaperone p58(IPK) interacts with BiP and assists in protein maturation by helping to fold ER cargo. Its deletion increases the cellular sensitivity to ER stress. We found a lower generation of DYT1 knock-in/p58 knock-out mice than expected from this cross, suggesting a developmental interaction that influences viability. However, surviving animals did not exhibit abnormal motor function. Analysis of brain tissue uncovered dysregulation of eiF2α and Akt/mTOR translational control pathways in the DYT1 brain, a finding confirmed in a second rodent model and in human brain. Finally, an unbiased proteomic analysis identified relevant changes in the neuronal protein landscape suggesting abnormal ER protein metabolism and calcium dysregulation. Functional studies confirmed the interaction between the DYT1 genotype and neuronal calcium dynamics. Overall, these findings advance our knowledge on dystonia, linking translational control pathways and calcium physiology to dystonia pathogenesis and identifying potential new pharmacological targets. Dystonia type 1 (DYT1) is one of the different forms of inherited dystonia, a neurological disorder characterized by involuntary, disabling movements. DYT1 is caused by mutations in the gene that encodes the endoplasmic reticulum (ER)-resident protein torsinA. How mutant torsinA causes neuronal dysfunction remains unknown. Here, we show the behavioral and molecular consequences of stressing the ER in DYT1 mice by

Deep learning methods for protein torsion angle prediction.

PubMed

Li, Haiou; Hou, Jie; Adhikari, Badri; Lyu, Qiang; Cheng, Jianlin

2017-09-18

Deep learning is one of the most powerful machine learning methods that has achieved the state-of-the-art performance in many domains. Since deep learning was introduced to the field of bioinformatics in 2012, it has achieved success in a number of areas such as protein residue-residue contact prediction, secondary structure prediction, and fold recognition. In this work, we developed deep learning methods to improve the prediction of torsion (dihedral) angles of proteins. We design four different deep learning architectures to predict protein torsion angles. The architectures including deep neural network (DNN) and deep restricted Boltzmann machine (DRBN), deep recurrent neural network (DRNN) and deep recurrent restricted Boltzmann machine (DReRBM) since the protein torsion angle prediction is a sequence related problem. In addition to existing protein features, two new features (predicted residue contact number and the error distribution of torsion angles extracted from sequence fragments) are used as input to each of the four deep learning architectures to predict phi and psi angles of protein backbone. The mean absolute error (MAE) of phi and psi angles predicted by DRNN, DReRBM, DRBM and DNN is about 20-21° and 29-30° on an independent dataset. The MAE of phi angle is comparable to the existing methods, but the MAE of psi angle is 29°, 2° lower than the existing methods. On the latest CASP12 targets, our methods also achieved the performance better than or comparable to a state-of-the art method. Our experiment demonstrates that deep learning is a valuable method for predicting protein torsion angles. The deep recurrent network architecture performs slightly better than deep feed-forward architecture, and the predicted residue contact number and the error distribution of torsion angles extracted from sequence fragments are useful features for improving prediction accuracy.

Frequency-dependent solvent friction and torsional damping in liquid 1,2-difluoroethane

NASA Astrophysics Data System (ADS)

MacPhail, Richard A.; Monroe, Frances C.

1991-04-01

We have used Raman spectroscopy to study the torsional dynamics, rotational dynamics, and conformational solvation energy of liquid 1,2-difluoroethane. From the Raman intensities, we obtain Δ H(g-t) = -2.4±0.1 kcal/mol, indicating strong dipolar solvation of the gauche conformer. We analyze the Raman linewidths of the CCF bending bands to obtain the zero-frequency torsional damping coefficient or well friction for the gauche conformer, and from the linewidth of the torsion band we obtain the friction evaluated at the torsional frequency. The zero-frequency well friction shows deviations from hydrodynamic behavior reminiscent of those observed for barrier friction, whereas the high-frequency friction is considerably smaller in magnitude and independent of temperature and viscosity. The zero-frequency torsional friction correlates linearly with the rotational friction. It is argued that the small amplitude of the torsional fluctuations emphasizes the short distance, or high wavevector components of the solvent friction. Dielectric friction apparently does not contribute to the torsional friction at the observed frequencies.

Forebrain deletion of the dystonia protein torsinA causes dystonic-like movements and loss of striatal cholinergic neurons

PubMed Central

Pappas, Samuel S; Darr, Katherine; Holley, Sandra M; Cepeda, Carlos; Mabrouk, Omar S; Wong, Jenny-Marie T; LeWitt, Tessa M; Paudel, Reema; Houlden, Henry; Kennedy, Robert T; Levine, Michael S; Dauer, William T

2015-01-01

Striatal dysfunction plays an important role in dystonia, but the striatal cell types that contribute to abnormal movements are poorly defined. We demonstrate that conditional deletion of the DYT1 dystonia protein torsinA in embryonic progenitors of forebrain cholinergic and GABAergic neurons causes dystonic-like twisting movements that emerge during juvenile CNS maturation. The onset of these movements coincides with selective degeneration of dorsal striatal large cholinergic interneurons (LCI), and surviving LCI exhibit morphological, electrophysiological, and connectivity abnormalities. Consistent with the importance of this LCI pathology, murine dystonic-like movements are reduced significantly with an antimuscarinic agent used clinically, and we identify cholinergic abnormalities in postmortem striatal tissue from DYT1 dystonia patients. These findings demonstrate that dorsal LCI have a unique requirement for torsinA function during striatal maturation, and link abnormalities of these cells to dystonic-like movements in an overtly symptomatic animal model. DOI: http://dx.doi.org/10.7554/eLife.08352.001 PMID:26052670

Long-term follow-up of botulinum toxin therapy for focal hand dystonia: outcome at 10 years or more.

PubMed

Lungu, Codrin; Karp, Barbara I; Alter, Katharine; Zolbrod, Regina; Hallett, Mark

2011-03-01

Previous studies have explored the efficacy and safety of botulinum neurotoxin (BoNT) treatment for Focal hand dystonia (FHD), but none have followed a large number of patients for 10 years or more. Retrospective study, with benefit and weakness assessed on a 0 to 4 subjective scale. Demographic, clinical and treatment characteristics were analyzed using t tests and Pearson correlations. Twenty FHD patients had 10 years or longer treatment. Interinjection intervals were variable. Musicians were more likely to wait longer between injections and had less complex dystonia. There was a trend for larger benefit in women and with shorter intervals. The dose increased over time. Dystonia characteristics did not predict response or side-effects, but benefit magnitude predicted longer compliance. No serious side-effects or antibody-mediated resistance occurred. This is the longest reported period of BoNT treatment in the largest FHD cohort. BoNT therapy for FHD remains safe and effective after more than a decade of treatment. Copyright © 2011 Movement Disorder Society.

Scaled vibratory feedback can bias muscle use in children with dystonia during a redundant, one-dimensional myocontrol task

PubMed Central

Liyanagamage, Shanie A.; Bertucco, Matteo; Bhanpuri, Nasir H.; Sanger, Terence D.

2016-01-01

Vibratory feedback can be a useful tool for rehabilitation. We examined its use in children with dystonia to understand how it affects muscle activity in a population that does not respond well to standard rehabilitation. We predicted scaled vibration (i.e. vibration that was directly or inversely proportional to muscle activity) would increase use of the vibrated muscle because of task-relevant sensory information, while non-scaled vibration would not change muscle use. The study was conducted on 11 subjects with dystonia and 14 controls. Each subject underwent 4 different types of vibration on the more dystonic biceps muscle (or non-dominant arm in controls) in a one-dimensional, bimanual myocontrol task. Our results showed that only scaled vibratory feedback could bias muscle use without changing overall performance in children with dystonia. We believe there may be a role in rehabilitation for scaled vibratory feedback to retrain abnormal muscle patterns. PMID:27798370

Idiopathic Inflammatory Myopathies

PubMed Central

Dimachkie, Mazen M.; Barohn, Richard J.

2012-01-01

The idiopathic inflammatory myopathies are a group of rare disorders including polymyositis (PM), dermatomyositis (DM), and autoimmune necrotizing myopathies (NMs). The idiopathic inflammatory myopathies share many similarities. They present acutely, subacutely, or chronically with marked proximal and symmetric muscle weakness, except for associated distal and asymmetric weakness in inclusion body myositis. The idiopathic inflammatory myopathies also share a variable degree of creatine kinase (CK) elevation and a nonspecifically abnormal electromyogram demonstrating an irritative myopathy. The muscle pathology demonstrates inflammatory exudates of variable distribution within the muscle fascicle. Despite these similarities, the idiopathic inflammatory myopathies are a heterogeneous group. The overlap syndrome (OS) refers to the association of PM, DM, or NM with connective tissue disease, such as scleroderma or systemic lupus erythematosus. In addition to elevated antinuclear antibodies (ANA), patients with OS may be weaker in the proximal arms than the legs mimicking the pattern seen in some muscular dystrophies. In this review, we focus on DM, PM, and NM and examine current and promising therapies. PMID:23117947

Nonlinear Evolution of Short-wavelength Torsional Alfvén Waves

NASA Astrophysics Data System (ADS)

Shestov, S. V.; Nakariakov, V. M.; Ulyanov, A. S.; Reva, A. A.; Kuzin, S. V.

2017-05-01

We analyze nonlinear evolution of torsional Alfvén waves in a straight magnetic flux tube filled in with a low-β plasma, and surrounded with a plasma of lower density. Such magnetic tubes model, in particular, a segment of a coronal loop or a polar plume. The wavelength is taken comparable to the tube radius. We perform a numerical simulation of the wave propagation using ideal magnetohydrodynamics. We find that a torsional wave nonlinearly induces three kinds of compressive flows: the parallel flow at the Alfvén speed, which constitutes a bulk plasma motion along the magnetic field, the tube wave, and also transverse flows in the radial direction, associated with sausage fast magnetoacoustic modes. In addition, the nonlinear torsional wave steepens and its propagation speed increases. The latter effect leads to the progressive distortion of the torsional wave front, I.e., nonlinear phase mixing. Because of the intrinsic non-uniformity of the torsional wave amplitude across the tube radius, the nonlinear effects are more pronounced in regions with higher wave amplitudes. They are always absent at the axes of the flux tube. In the case of a linear radial profile of the wave amplitude, the nonlinear effects are localized in an annulus region near the tube boundary. Thus, the parallel compressive flows driven by torsional Alfvén waves in the solar and stellar coronae, are essentially non-uniform in the perpendicular direction. The presence of additional sinks for the wave energy reduces the efficiency of the nonlinear parallel cascade in torsional Alfvén waves.

Analysis of the Rotation-Torsion Spectrum of CH_2DOH Within the e_0, e_1, and o_1 Torsional Levels

NASA Astrophysics Data System (ADS)

Coudert, L. H.; Pearson, John C.; Yu, Shanshan; Margules, L.; Motiyenko, R. A.; Klee, S.

2013-06-01

Since the first assignments of Quade and coworkers, a more satisfactory understanding of the spectrum of CH_2DOH has now been achieved. Thanks to a multidimensional potential energy surface and to a new theoretical approach accounting for the internal rotation of a partially deuterated methyl group, 76 torsional subbands could be identified in the microwave and FIR domains. 8356 rotation and rotation-torsion transitions were also assigned for the three lowest lying torsional levels, e_0, e_1, and o_1, in the microwave and terahertz domains and were analyzed with empirical models. In this paper, a new approach aimed at accounting for the rotation-torsion energy levels of CH_2DOH will be presented. It is based on the exact expression of the generalized 4× 4 inertia tensor of the molecule and accounts for the C_s symmetry of the partially deuterated methyl group, for the dependence of the rotational constants on the angle of internal rotation, and for the rotation-torsion Coriolis coupling. This approach will be used to analyze high-resolution data involving the three lowest lying torsional levels, up to k=11. In addition to the microwave data reported recently,^d new transitions recorded in the terahertz domain at JPL will be analyzed. The results of the analysis will be presented in the paper and the parameters determined in the analysis will be discussed. Quade and Suenram, J. Chem. Phys. {73} (1980) 1127; and Su and Quade, J. Mol. Spec. {134} (1989) 290. Lauvergnat, Coudert, Klee, and Smirnov, J. Mol. Spec. {256} (2009) 204. El Hilali, Coudert, Konov, and Klee, J. Chem. Phys. {135} (2011) 194309. Pearson, Yu, and Drouin, J. Mol. Spec. {280} (2012) 119. Quade and Lin, J. Chem. Phys. {38} (1963) 540.

Using the shared genetics of dystonia and ataxia to unravel their pathogenesis

PubMed Central

Nibbeling, Esther A.R.; Delnooz, Cathérine C.S.; de Koning, Tom J.; Sinke, Richard J.; Jinnah, Hyder A.; Tijssen, Marina A.J.; Verbeek, Dineke S.

2018-01-01

In this review we explore the similarities between spinocerebellar ataxias and dystonias, and suggest potentially shared molecular pathways using a gene co-expression network approach. The spinocerebellar ataxias are a group of neurodegenerative disorders characterized by coordination problems caused mainly by atrophy of the cerebellum. The dystonias are another group of neurological movement disorders linked to basal ganglia dysfunction, although evidence is now pointing to cerebellar involvement as well. Our gene co-expression network approach identified 99 shared genes and showed the involvement of two major pathways: synaptic transmission and neurodevelopment. These pathways overlapped in the two disorders, with a large role for GABAergic signaling in both. The overlapping pathways may provide novel targets for disease therapies. We need to prioritize variants obtained by whole exome sequencing in the genes associated with these pathways in the search for new pathogenic variants, which can than be used to help in the genetic counseling of patients and their families. PMID:28143763

Aeroelastic considerations for torsionally soft rotors

NASA Technical Reports Server (NTRS)

Mantay, W. R.; Yeager, W. T., Jr.

1986-01-01

A research study was initiated to systematically determine the impact of selected blade tip geometric parameters on conformable rotor performance and loads characteristics. The model articulated rotors included baseline and torsionally soft blades with interchangeable tips. Seven blade tip designs were evaluated on the baseline rotor and six tip designs were tested on the torsionally soft blades. The designs incorporated a systemmatic variation in geometric parameters including sweep, taper, and anhedral. The rotors were evaluated in the NASA Langley Transonic Dynamics Tunnel at several advance ratios, lift and propulsive force values, and tip Mach numbers. A track sensitivity study was also conducted at several advance ratios for both rotors. Based on the test results, tip parameter variations generated significant rotor performance and loads differences for both baseline and torsionally soft blades. Azimuthal variation of elastic twist generated by variations in the tip parameters strongly correlated with rotor performance and loads, but the magnitude of advancing blade elastic twist did not. In addition, fixed system vibratory loads and rotor track for potential conformable rotor candidates appears very sensitive to parametric rotor changes.

Mannitol has a protective effect on testicular torsion: An experimental rat model.

PubMed

Kurt, Omer; Yazici, Cenk Murat; Erboga, Mustafa; Turan, Cuneyt; Bozdemir, Yeliz; Akbas, Alpaslan; Turker, Polat; Aktas, Cevat; Aydin, Murat; Yesildag, Ebru

2016-06-01

Testicular torsion is an emergency condition that causes testicular injury. Any treatment opportunity reducing the destructive effect of testicular torsion is important for the future life of patients. In this experimental study we investigated the protective effect of mannitol on ischemia-reperfusion (I/R) injury in a rat testes torsion model. In total, 32 male Sprague Dawley rats were included. Four experimental groups included eight rats each. Group A was a sham group in which the right testis was brought out through a scrotal incision and then replaced in the scrotum without torsion. In Group B, the right testis was torsioned, by rotating 720° clockwise and fixed to the scrotum with no treatment. In Group C, the same testicular torsion process was performed with saline infusion just after testicular torsion. In group D, mannitol infusion was used just after testicular torsion. Testicles were detorsioned after 3 h and left inside for more than 2 h before orchiectomy. Histopathological, immunohistochemical, and biochemical analyses were performed. Testicular architecture was disturbed significantly in the torsion groups without mannitol infusion. However, testicular tissue structure was significantly better in the mannitol-treated group, demonstrating a protective effect. Similar findings were also shown for the proliferating cell nuclear antigen (PCNA) index and antioxidant activity; both were higher in the mannitol group than in the no-treatment and saline groups (p < 0.01). The apoptotic index was also significantly lower in the mannitol-treated group compared with the no treatment and saline groups (p < 0.01). The seminiferous tubule structure in testicular torsion without mannitol treatment was significantly disturbed, whereas the structural disruption was considerably less in the mannitol group. Mannitol treatment also decreased reactive oxygen radical levels significantly and was able to decrease apoptosis. These results were consistent with other

Torsion effect on fully developed flow in a helical pipe

NASA Technical Reports Server (NTRS)

Kao, Hsiao C.

1987-01-01

Two techniques, a series expansion method of perturbed Poiseuille flow valid for low Dean numbers and a solution of the complete Navier-Stokes equation applicable to intermediate Dean values, are used to investigate the torsion effect on the fully developed laminar flow in a helical pipe of constant circular cross section. For the secondary flow patterns, the results show that the presence of torsion can produce a significant effect if the ratio of the curvature to the torsion is of order unity. The secondary flow is distorted in these cases. It is noted that the torsion effect is, however, usually small, and that the secondary flow has the usual pattern of a pair of counter-rotating vortices of nearly equal strength.

Development of a Meso-Scale SMA-Based Torsion Actuator for Image-Guided Procedures.

PubMed

Sheng, Jun; Gandhi, Dheeraj; Gullapalli, Rao; Simard, J Marc; Desai, Jaydev P

2017-02-01

This paper presents the design, modeling, and control of a meso-scale torsion actuator based on shape memory alloy (SMA) for image-guided surgical procedures. Developing a miniature torsion actuator is challenging, but it opens the possibility of significantly enhancing the robot agility and maneuverability. The proposed torsion actuator is bi-directionally actuated by a pair of antagonistic SMA torsion springs through alternate Joule heating and natural cooling. The torsion actuator is integrated into a surgical robot prototype to demonstrate its working performance in the humid environment under C-Arm CT image guidance.

Development of a Meso-Scale SMA-Based Torsion Actuator for Image-Guided Procedures

PubMed Central

Sheng, Jun; Gandhi, Dheeraj; Gullapalli, Rao; Simard, J. Marc; Desai, Jaydev P.

2016-01-01

This paper presents the design, modeling, and control of a meso-scale torsion actuator based on shape memory alloy (SMA) for image-guided surgical procedures. Developing a miniature torsion actuator is challenging, but it opens the possibility of significantly enhancing the robot agility and maneuverability. The proposed torsion actuator is bi-directionally actuated by a pair of antagonistic SMA torsion springs through alternate Joule heating and natural cooling. The torsion actuator is integrated into a surgical robot prototype to demonstrate its working performance in the humid environment under C-Arm CT image guidance. PMID:28210189

Therapeutic immobilisation for small guitar player’s dystonia: a case report

PubMed Central

Waissman, Flavia; Pereira, João Santos; Nascimento, Osvaldo J M

2009-01-01

The development of focal hand dystonia through repetitive tasks is a result of degradation of cortical somatosensory representation due to repetitive fast stimuli sufficient to alter the sensory-motor stimulus, harming the motor control. A sensory-motor training program can modify this disorder. A behavioural intervention focusing on movement could help reduce or eliminate these conditions. PMID:21686815

Gastric dilatation-volvulus after splenic torsion in two dogs.

PubMed

Millis, D L; Nemzek, J; Riggs, C; Walshaw, R

1995-08-01

Two dogs developed gastric dilatation-volvulus 2 and 17 months, respectively, after splenectomy for treatment of splenic torsion. Splenic displacement and torsion may stretch the gastric ligaments, allowing increased mobility of the stomach. After splenectomy, an anatomic void may be created in the cranioventral part of the abdomen, contributing to the mobility of the stomach. Veterinarians treating dogs with isolated splenic torsion may wish to consider prophylactic gastropexy at splenectomy, to reduce the chance of future gastric dilatation-volvulus. Prophylactic gastropexy should be done only if the dog's hemodynamic status is stable enough to allow for performance of the additional surgery.

Genetics Home Reference: familial idiopathic basal ganglia calcification

MedlinePlus

... Children Living with Inherited Metabolic Diseases Dystonia Medical Research Foundation Family Caregiver Alliance National Ataxia Foundation National Organization for Rare Disorders (NORD) University of Kansas Medical ...

Improving the sensitivity of a torsion pendulum by using an optical spring method

DOE Office of Scientific and Technical Information (OSTI.GOV)

Wang Qinglan; Yeh Hsienchi; Zhou Zebing

We present a scheme aiming at improving the sensitivity of a torsion pendulum by means of radiation-pressure-induced optical spring. Two partial-reflective mirrors are installed on the opposite sides of a torsion pendulum, and one high-reflective mirror is mounted at the end of the torsion beam so that two identical Fabry-Perot cavities can be formed and aligned in series. Due to the antisymmetric radiation pressures acting on the opposite sides of the torsion beam, a negative restoring coefficient can be generated within a certain dynamic range, such that both the resultant torsional rigidity and the resonant frequency of the torsion pendulummore » are reduced, and the minimum detectable response torque in high-frequency region can be reduced accordingly.« less

[Torsion of wandering spleen in a teenager: about a case].

PubMed

Dème, Hamidou; Akpo, Léra Géraud; Fall, Seynabou; Badji, Nfally; Ka, Ibrahima; Guèye, Mohamadou Lamine; Touré, Mouhamed Hamine; Niang, El Hadj

2016-01-01

Wandering or migrating spleen is a rare anomaly which is usually described in children. Complications, which include pedicle torsion, are common and can be life-threatening. We report the case of a 17 year-old patient with a long past medical history of epigastric pain suffering from wandering spleen with chronic torsion of the pedicle. The clinical picture was marked by spontaneously painful epigastric mass, evolved over the past 48 hours. Abdominal ultrasound objectified heterogeneous hypertrophied ectopic spleen in epigastric position and a subcapsular hematoma. Doppler showed a torsion of splenic pedicle which was untwisted 2 turns and a small blood stream on the splenic artery. Abdominal CT scan with contrast injection showed a lack of parenchymal enhancement of large epigastric ectopic spleen and a subcapsular hematoma. The diagnosis of wandering spleen with chronic torsion of the pedicle complicated by necrosis and subcapsular hematoma was confirmed. The patient underwent splenectomy. The postoperative course was uneventful. We here discuss the contribution of ultrasound and CT scan in the diagnosis of wandering spleen with chronic torsion of the pedicle.

Local metrics admitting a principal Killing-Yano tensor with torsion

NASA Astrophysics Data System (ADS)

Houri, Tsuyoshi; Kubizňák, David; Warnick, Claude M.; Yasui, Yukinori

2012-08-01

In this paper we initiate a classification of local metrics admitting the principal Killing-Yano tensor with a skew-symmetric torsion. It is demonstrated that in such spacetimes rank-2 Killing tensors occur naturally and mutually commute. We reduce the classification problem to that of solving a set of partial differential equations, and we present some solutions to these PDEs. In even dimensions, three types of local metrics are obtained: one of them naturally generalizes the torsion-less case while the others occur only when the torsion is present. In odd dimensions, we obtain more varieties of local metrics. The explicit metrics constructed in this paper are not the most general possible admitting the required symmetry; nevertheless, it is demonstrated that they cover a wide variety of solutions of various supergravities, such as the Kerr-Sen black holes of (un-)gauged Abelian heterotic supergravity, the Chong-Cvetic-Lü-Pope black hole solution of five-dimensional minimal supergravity or the Kähler with torsion manifolds. The relation between generalized Killing-Yano tensors and various torsion Killing spinors is also discussed.

A tension-torsional fatigue testing apparatus for micro-scale components.

PubMed

Fu, Sichao; Wang, Lei; Chen, Gang; Yu, Dunji; Chen, Xu

2016-01-01

Mechanical characterization of micro-scale components under complex loading conditions is a great challenge. To meet such a challenge, a microtension-torsional fatigue testing apparatus is developed in this study that specializes in the evaluation of multiaxial fatigue behavior of thin stent wires. The actuation and measurement in two controlled directions are incorporated in the tensile and torsional load frames, respectively, and a thrust air bearing is applied for the coupling of the two frames. The axial deformation of specimens measured by a grating sensor built in the linear motor and by a non-contact displacement detect system is compared and corrected. The accuracy of the torque measurement is proved by torsion tests on thin wires of 316L stainless steel in nominal diameters of 100 μm. Multistep torsion test, multiaxial ratcheting test, and a fully strain controlled multiaxial cyclic test are performed on 100 μm and 200 μm-diameter 316L wires using this apparatus. The capability of the equipment in tension-torsional cyclic tests for micro-scale specimens is demonstrated by the experimental results.

A tension-torsional fatigue testing apparatus for micro-scale components

NASA Astrophysics Data System (ADS)

Fu, Sichao; Wang, Lei; Chen, Gang; Yu, Dunji; Chen, Xu

2016-01-01

Mechanical characterization of micro-scale components under complex loading conditions is a great challenge. To meet such a challenge, a microtension-torsional fatigue testing apparatus is developed in this study that specializes in the evaluation of multiaxial fatigue behavior of thin stent wires. The actuation and measurement in two controlled directions are incorporated in the tensile and torsional load frames, respectively, and a thrust air bearing is applied for the coupling of the two frames. The axial deformation of specimens measured by a grating sensor built in the linear motor and by a non-contact displacement detect system is compared and corrected. The accuracy of the torque measurement is proved by torsion tests on thin wires of 316L stainless steel in nominal diameters of 100 μm. Multistep torsion test, multiaxial ratcheting test, and a fully strain controlled multiaxial cyclic test are performed on 100 μm and 200 μm-diameter 316L wires using this apparatus. The capability of the equipment in tension-torsional cyclic tests for micro-scale specimens is demonstrated by the experimental results.

GCH1 mutations are common in Serbian patients with dystonia-parkinsonism: Challenging previously reported prevalence rates of DOPA-responsive dystonia.

PubMed

Dobričić, Valerija; Tomić, Aleksandra; Branković, Vesna; Kresojević, Nikola; Janković, Milena; Westenberger, Ana; Rašić, Vedrana Milić; Klein, Christine; Novaković, Ivana; Svetel, Marina; Kostić, Vladimir S

2017-12-01

GTP cyclohydrolase 1-deficient DOPA-responsive dystonia, caused by autosomal dominant mutation in the gene coding for GTP cyclohydrolase 1, is a rare disorder with a reported prevalence of 0.5 per million. A correct diagnosis of DRD is crucial, given that this is an exquisitely treatable neurogenetic disorder. Although genetic testing is now widely available, we hypothesize that DRD is still underdiagnosed and its prevalence underestimated. Molecular genetic analysis of the GCH1 gene was performed in a representative cohort of 47 Serbian patients with clinical features of DRD and in their 16 available relatives. The DRD prevalence rate in Serbia was estimated based on population size, catchment area, and the centralized Serbian referral system for rare diseases. We identified 9 different GCH1 mutations in 23 individuals from 11 families, 5 of which are novel. Patients displayed a broad range of clinical phenotypes. The estimated prevalence of GCH1-related DOPA-responsive dystonia in Serbia was 2.96 per million individuals and there was no evidence for a common founder. Our data expand the genotypic spectrum of GCH1 and confirm the broad phenotypic spectrum of DRD in the Serbian population. The number of detected mutation carriers in this sample implies that the frequency of DRD in the Serbian population is considerably higher than expected based on published prevalence rates, suggesting that the prevalence of this treatable disease should be revisited also in other populations. Copyright © 2017 Elsevier Ltd. All rights reserved.

Torsional Stability of Aluminum Alloy Seamless Tubing

NASA Technical Reports Server (NTRS)

Moore, R L; Paul, D A

1939-01-01

Torsion tests were made on 51ST aluminum-alloy seamless tubes having diameter-to-thickness ratios of from 77 to 139 and length-to-diameter ratios of from 1 to 60. The torsional strengths developed in the tubes which failed elastically (all tubes having lengths greater than 2 to 6 times the diameter) were in most cases within 10 percent of the value indicated by the theories of Donnel, Timoshenko, and Sturm, assuming a condition of simply supported ends.

Nonlinear Hysteretic Torsional Waves

NASA Astrophysics Data System (ADS)

Cabaret, J.; Béquin, P.; Theocharis, G.; Andreev, V.; Gusev, V. E.; Tournat, V.

2015-07-01

We theoretically study and experimentally report the propagation of nonlinear hysteretic torsional pulses in a vertical granular chain made of cm-scale, self-hanged magnetic beads. As predicted by contact mechanics, the torsional coupling between two beads is found to be nonlinear hysteretic. This results in a nonlinear pulse distortion essentially different from the distortion predicted by classical nonlinearities and in a complex dynamic response depending on the history of the wave particle angular velocity. Both are consistent with the predictions of purely hysteretic nonlinear elasticity and the Preisach-Mayergoyz hysteresis model, providing the opportunity to study the phenomenon of nonlinear dynamic hysteresis in the absence of other types of material nonlinearities. The proposed configuration reveals a plethora of interesting phenomena including giant amplitude-dependent attenuation, short-term memory, as well as dispersive properties. Thus, it could find interesting applications in nonlinear wave control devices such as strong amplitude-dependent filters.

Torsion of the fallopian tube--a late complication of sterilisation.

PubMed

Sivanesaratnam, V

1986-02-01

Torsion of an intact fallopian tube, unaccompanied by torsion of the ipsilateral ovary, was noted as a complication of bilateral tubal occlusion by the Pomeroy method in a 45-year old Indian woman. The sterilization was performed 5 years previously, at the time of Cesarean section delivery. The patient presented with a history of pain in the right iliac fossa. Laparotomy showed that the distal segment of the right fallopian tube was twisted 3 times on the distal mesosalpinx and appeared tense and gangrenous. The right ovary was normal and a 2 cm gap was noted between the proximal and distal segments of the tube. As a rare complication of the Pomeroy method, the gap in the tube can allow the distal mesosalpinx to act as a pedicle, and with a long mesosalpinx, the fimbriated segment of the tube lies free and may swing and twist to produce torsion. The occurrence of torsion is further promoted by a vascular disturbance leading to venous congestion, edema, and increased weight of the free fimbrial end of the tube. In those patients with a history of sterilization, torsion of the fallopian tube should be considered in the differential diagnosis of acute lower abdominal pain. Torsion of the fallopian tube has also been reported following other methods of tubal occlusion, including cautery and clips.

Decreased left ventricular torsion in patients with isolated mitral stenosis.

PubMed

Kirilmaz, B; Asgun, F; Saygi, S; Ercan, E

2015-02-01

Left ventricular (LV) torsion is a sensitive indicator of myocardial contractility and cardiac structure, and has recently been recognized as a sensitive indicator of cardiac performance. The aim of our study was to assess the effect of isolated mitral stenosis on LV torsion. We enrolled 19 patients with isolated mitral stenosis and 19 age- and gender-matched healthy subjects in the study. All patients had a normal sinus rhythm. All study subjects underwent two-dimensional echocardiography. Basal and apical LV rotations and LV torsion were evaluated using speckle-tracking echocardiography. Demographic characteristics, basic echocardiographic measures of LV ejection fraction, LV wall thickness, and LV mass index were similar between the two groups. The degrees of LV torsion (11.3 ± 4.7, 15.4 ± 4.9°, p=0.014) and LV basal rotation (- 3.7 ± 1.9, - 6.5 ± 2.1°, p< 0.001) were significantly decreased in the mitral stenosis group. There was a moderate positive correlation between mitral valve area and LV torsion (r=0.531, p=0.019). We showed significant reductions in LV torsion and LV basal rotation in patients with mitral valve stenosis. Structural and anatomical changes occurring during the progression of mitral stenosis may be responsible for these impaired movements.

Investigations on Torsion of the Two-Chords Single Laced Members

NASA Astrophysics Data System (ADS)

Lorkowski, Paweł; Gosowski, Bronisław

2017-06-01

The paper presents experimental and numerical studies to determine the equivalent second moment of area of the uniform torsion of the two-chord steel single laced members. The members are used as poles of railway traction network gates, and steel columns of framed buildings as well. The stiffness of uniform torsion of this kind of columns allows to the determine the critical loads of the spatial stability. The experimental studies have been realized on a single - span members with rotation arrested at their ends, loaded by a torque applied at the mid-span. The relationship between angle of rotation of the considered cross-section and the torque has been determined. Appropriate numerical model was created in the ABAQUS program, based on the finite element method. A very good compatibility has been observed between experimental and numerical studies. The equivalent second moment of area of the uniform torsion for analysed members has been determined by comparing the experimental and analytical results to those obtained from differential equation of non-uniform torsion, based on Vlasov's theory. Additionally, the parametric analyses of similar members subjected to the uniform torsion, for the richer range of cross-sections have been carried out by the means of SOFiSTiK program. The purpose of the latter was determining parametrical formulas for calculation of the second moment of area of uniform torsion.

Nonlinear Evolution of Short-wavelength Torsional Alfvén Waves

DOE Office of Scientific and Technical Information (OSTI.GOV)

Shestov, S. V.; Nakariakov, V. M.; Ulyanov, A. S.

2017-05-10

We analyze nonlinear evolution of torsional Alfvén waves in a straight magnetic flux tube filled in with a low- β plasma, and surrounded with a plasma of lower density. Such magnetic tubes model, in particular, a segment of a coronal loop or a polar plume. The wavelength is taken comparable to the tube radius. We perform a numerical simulation of the wave propagation using ideal magnetohydrodynamics. We find that a torsional wave nonlinearly induces three kinds of compressive flows: the parallel flow at the Alfvén speed, which constitutes a bulk plasma motion along the magnetic field, the tube wave, andmore » also transverse flows in the radial direction, associated with sausage fast magnetoacoustic modes. In addition, the nonlinear torsional wave steepens and its propagation speed increases. The latter effect leads to the progressive distortion of the torsional wave front, i.e., nonlinear phase mixing. Because of the intrinsic non-uniformity of the torsional wave amplitude across the tube radius, the nonlinear effects are more pronounced in regions with higher wave amplitudes. They are always absent at the axes of the flux tube. In the case of a linear radial profile of the wave amplitude, the nonlinear effects are localized in an annulus region near the tube boundary. Thus, the parallel compressive flows driven by torsional Alfvén waves in the solar and stellar coronae, are essentially non-uniform in the perpendicular direction. The presence of additional sinks for the wave energy reduces the efficiency of the nonlinear parallel cascade in torsional Alfvén waves.« less

Torsional Dynamics of Steerable Needles: Modeling and Fluoroscopic Guidance

PubMed Central

Swensen, John P.; Lin, MingDe; Okamura, Allison M.; Cowan, Noah J.

2017-01-01

Needle insertions underlie a diversity of medical interventions. Steerable needles provide a means by which to enhance existing needle-based interventions and facilitate new ones. Tip-steerable needles follow a curved path and can be steered by twisting the needle base during insertion, but this twisting excites torsional dynamics that introduce a discrepancy between the base and tip twist angles. Here, we model the torsional dynamics of a flexible rod—such as a tip-steerable needle—during subsurface insertion and develop a new controller based on the model. The torsional model incorporates time-varying mode shapes to capture the changing boundary conditions inherent during insertion. Numerical simulations and physical experiments using two distinct setups—stereo camera feedback in semi-transparent artificial tissue and feedback control with real-time X-ray imaging in optically opaque artificial tissue— demonstrate the need to account for torsional dynamics in control of the needle tip. PMID:24860026

[The functional sport shoe parameter "torsion" within running shoe research--a literature review].

PubMed

Michel, F I; Kälin, X; Metzger, A; Westphal, K; Schweizer, F; Campe, S; Segesser, B

2009-12-01

Within the sport shoe area torsion is described as the twisting and decoupling of the rear-, mid- and forefoot along the longitudinal axis of the foot. Studies have shown that running shoes restrict the torsion of the foot and thus they increase the pronation of the foot. Based on the findings, it is recommended to design running shoes, which allow the natural freedom of movement of the foot. The market introduction of the first torsion concept through adidas(R) took place in 1989. Independently of the first market introduction, only one epidemiological study was conducted in the running shoe area. The study should investigate the occurrence of Achilles tendon problems of the athletes running in the new "adidas Torsion(R) shoes". However, further studies quantifying the optimal region of torsionability concerning the reduction of injury incidence are still missing. Newer studies reveal that the criterion torsion only plays a secondary roll regarding the buying decision. Moreover, athletes are not able to perceive torsionability as a discrete functional parameter. It is to register, that several workgroups are dealing intensively with the detailed analysis of the foot movement based on kinematic multi-segment-models. However, scientific as well as popular scientific contributions display that the original idea of the torsion concept is still not completely understood. Hence, the "inverse" characteristic is postulated. The present literature review leads to the deduction that the functional characteristics of the torsion concept are not fully implemented within the running shoe area. This implies the necessity of scientific studies, which investigate the relevance of a functional torsion concept regarding injury prevention based on basic and applied research. Besides, biomechanical studies should analyse systematically the mechanism and the effects of torsion relevant technologies and systems.

Cross-axis adaptation of torsional components in the yaw-axis vestibulo-ocular reflex

NASA Technical Reports Server (NTRS)

Trillenberg, P.; Shelhamer, M.; Roberts, D. C.; Zee, D. S.

2003-01-01

The three pairs of semicircular canals within the labyrinth are not perfectly aligned with the pulling directions of the six extraocular muscles. Therefore, for a given head movement, the vestibulo-ocular reflex (VOR) depends upon central neural mechanisms that couple the canals to the muscles with the appropriate functional gains in order to generate a response that rotates the eye the correct amount and around the correct axis. A consequence of these neural connections is a cross-axis adaptive capability, which can be stimulated experimentally when head rotation is around one axis and visual motion about another. From this visual-vestibular conflict the brain infers that the slow-phase eye movement is rotating around the wrong axis. We explored the capability of human cross-axis adaptation, using a short-term training paradigm, to determine if torsional eye movements could be elicited by yaw (horizontal) head rotation (where torsion is normally inappropriate). We applied yaw sinusoidal head rotation (+/-10 degrees, 0.33 Hz) and measured eye movement responses in the dark, and before and after adaptation. The adaptation paradigm lasted 45-60 min, and consisted of the identical head motion, coupled with a moving visual scene that required one of several types of eye movements: (1) torsion alone (-Roll); (2) horizontal/torsional, head right/CW torsion (Yaw-Roll); (3) horizontal/torsional, head right/CCW torsion (Yaw+Roll); (4) horizontal, vertical, torsional combined (Yaw+Pitch-Roll); and (5) horizontal and vertical together (Yaw+Pitch). The largest and most significant changes in torsional amplitude occurred in the Yaw-Roll and Yaw+Roll conditions. We conclude that short-term, cross-axis adaptation of torsion is possible but constrained by the complexity of the adaptation task: smaller torsional components are produced if more than one cross-coupling component is required. In contrast, vertical cross-axis components can be easily trained to occur with yaw head

Ovarian torsion in children: management and outcomes.

PubMed

Geimanaite, Lina; Trainavicius, Kestutis

2013-09-01

The purpose of this study is to evaluate the clinical symptoms, diagnosis, management, and outcomes in children with ovarian torsion. The charts of 50 patients with 53 cases of ovarian torsion treated between January 1989 and March 2012 were reviewed retrospectively. Long term follow up was available for 20 girls who had their ovaries left in the abdominal cavity after detorsion. In 22 cases ovaries were removed, and in 31 cases the torsion was relieved and the ovaries left in the abdominal cavity. Twenty-five of the salvaged ovaries were black-bluish and 10 bluish in color. Since 2005, after a change in preferred treatment, all ovaries treated by detorsion were left in the abdominal cavity. The long term results were observed clinically and by ultrasound in 20 girls. Multifollicular ovaries were found in 17 girls. One girl had a normal size paucifollicular ovary, a one-year-old girl had a normal size ovary with microfollicles, and one girl had no ovarian material detectable by ultrasound. Long term analysis of the treatment of ovarian torsion revealed that ovaries treated by detorsion and left in the abdominal cavity preserved their normal anatomy and function. Conservative surgical treatment proved to be safe. None of the girls had thromboembolism or peritonitis, and no malignant tumors were found in the operated ovaries. Copyright © 2013 Elsevier Inc. All rights reserved.

An Assessment of Cumulative Axial and Torsional Fatigue in a Cobalt-Base Superalloy

NASA Technical Reports Server (NTRS)

Kalluri, Sreeramesh; Bonacuse, Peter J.

2010-01-01

Cumulative fatigue under axial and torsional loading conditions can include both load-order (higMow and low/high) as well as load-type sequence (axial/torsional and torsional/axial) effects. Previously reported experimental studies on a cobalt-base superalloy, Haynes 188 at 538 C, addressed these effects. These studies characterized the cumulative axial and torsional fatigue behavior under high amplitude followed by low amplitude (Kalluri, S. and Bonacuse, P. J., "Cumulative Axial and Torsional Fatigue: An Investigation of Load-Type Sequance Effects," in Multiaxial Fatigue and Deformation: Testing and Prediction, ASTM STP 1387, S. Kalluri, and P. J. Bonacuse, Eds., American Society for Testing and Materials, West Conshohocken, PA, 2000, pp. 281-301) and low amplitude followed by high amplitude (Bonacuse, P. and Kalluri, S. "Sequenced Axial and Torsional Cumulative Fatigue: Low Amplitude Followed by High Amplitude Loading," Biaxial/Multiaxial Fatigue and Fracture, ESIS Publication 31, A. Carpinteri, M. De Freitas, and A. Spagnoli, Eds., Elsevier, New York, 2003, pp. 165-182) conditions. In both studies, experiments with the following four load-type sequences were performed: (a) axial/axial, (b) torsional/torsional, (c) axial/torsional, and (d) torsional/axial. In this paper, the cumulative axial and torsional fatigue data generated in the two previous studies are combined to generate a comprehensive cumulative fatigue database on both the load-order and load-type sequence effects. This comprehensive database is used to examine applicability of the Palmgren-langer-Miner linear damage rule and a nonlinear damage curve approach for Haynes 188 subjected to the load-order and load-type sequencing described above. Summations of life fractions from the experiments are compared to the predictions from both the linear and nonlinear cumulative fatigue damage approaches. The significance of load-order versus load-type sequence effects for axial and torsional loading conditions

Torsional Properties of TiNi Shape Memory Alloy Tape for Rotary Actuator

NASA Astrophysics Data System (ADS)

Takeda, K.; Tobushi, H.; Mitsui, K.; Nishimura, Y.; Miyamoto, K.

2012-12-01

In order to develop novel shape memory actuators, the torsional deformation of a shape memory alloy (SMA) tape and the actuator models driven by the tape were investigated. The results obtained can be summarized as follows. In the SMA tape subjected to torsion, the martensitic transformation appears along both edges of the tape due to elongation of these elements and grows to the central part. The fatigue life in both the pulsating torsion and alternating torsion is expressed by the unified relationship of the dissipated work in each cycle. Based on an opening and closing door model and a solar-powered active blind model, the two-way rotary driving actuator with a small and simple mechanism can be developed by using torsion of the SMA tape.

Development of Torsional and Linear Piezoelectrically Driven Motors

NASA Technical Reports Server (NTRS)

Duong, Khanh; Newton, David; Garcia, Ephrahim

1996-01-01

The development of rotary and linear inchworm-motors using piezoelectric actuators is presented. The motors' design has the advantage of a macro and micro stepper motor with high load and speed. The torsional design is capable of fast angular positioning with micro level accuracy. Additionally, the rotary motor, as designed, can be used as a clutch/brake mechanism. Constructed prototype motors of both types along with their characteristics are presented. The torsional motor consists of a torsional section that provides angular displacement and torque, and two alternating clamping sections which provide the holding force. The motor relies on the principal piezoelectric coupling coefficient (d33) with no torsional elements, increasing its torque capability. The linear motor consists of a longitudinal vibrator that provides displacement and load, and two alternating clamping sections which provide the holding force. This design eliminates bending moment, tension and shear applied to the actuator elements, increase its load capability and life. Innovative flexure designs have been introduced for both motor types. Critical issues that affect the design and performance of the motors are explored and discussed. Experiments are performed demonstrating the motor prototypes based on the aforementioned design considerations.

Optical monitoring of testicular torsion using a miniaturized near infrared spectroscopy sensor

NASA Astrophysics Data System (ADS)

Shadgan, Babak; Kajbafzadeh, Majid; Nigro, Mark; Kajbafzadeh, A. M.; Macnab, Andrew

2017-02-01

Background: Testicular torsion is an acute urological emergency occurring in children and adolescents. Accurate and fast diagnosis is important as the resulting ischemia can destroy the testis. Currently, Doppler ultrasound is the preferred diagnostic method. Ultrasound is not readily available in all centers which may delay surgical treatment. In this study, a rat model was used to examine the feasibility and sensitivity of using spatially-resolved near infrared spectroscopy (SR-NIRS) with a custom-made miniaturized optical sensor probe to detect and study changes in testicular hemodynamics and oxygenation during three degrees of induced testicular torsion, and after detorsion. Methods: Eight anesthetized rats (16 testes) were studied using SR-NIRS with the miniaturized optical probe applied directly onto the surface of the surgically exposed testis during 360, 720 and 1080 degrees of torsion followed by detorsion. Oxygenated, deoxygenated and total hemoglobin and TOI% were studied pre-and post-manipulations. Results: NIRS monitoring reflected acute testicular ischemia and hypoxia on induction of torsion, and tissue reperfusionreoxygenation after detorsion. Testicular torsion at 720 degrees induced the maximum observed degree of hypoxic changes. In all cases, rhythmic changes were observed in the NIRS signals before inducing torsion; these disappeared after applying 360 degrees of torsion and did not reappear after detorsion. Conclusion: This animal study indicates that SR-NIRS monitoring of the testes using a directly applied miniature sensor is a feasible and sensitive method to detect testicular ischemia and hypoxia immediately after torsion occurs, and testicular reperfusion upon detorsion. This study offers the potential for a SR-NIRS system with a miniaturized sensor to be explored further as a rapid, noninvasive, optical method for detecting testicular torsion in children.

Focal Dystonia in Hemiplegic Upper Limb: Favorable Effect of Cervical Microsurgical DREZotomy Involving the Ventral Horn - A Report of 3 Patients.

PubMed

Sindou, Marc; Georgoulis, George

2016-01-01

Focal dystonia in hemiplegic upper limbs is poorly responsive to medications or classical neurosurgical treatments. Only repeated botulinum toxin injections show efficacy, but in most severe cases effects are transient. Cervical DREZ lesioning, which has proven efficacious in hyperspasticity when done deeply (3-5 mm) in the dorsal horn, may have favorable effects on the dystonic component when performed down to, and including, the base of the ventral horn (5-6 mm in depth). Three patients underwent deep cervical microsurgical DREZotomy (MDT) for focal dystonia in the upper limb. Hypertonia was reduced, and sustained dystonic postures were suppressed. Residual motor function (hidden behind hypertonia) came to the surface. Cervical MDT may be a useful armamentarium for treating refractory focal dystonia in the upper limb. © 2016 S. Karger AG, Basel.

Determining Angle of Humeral Torsion Using Image Software Technique.

PubMed

Patil, Sachin; Sethi, Madhu; Vasudeva, Neelam

2016-10-01

Several researches have been done on the measurement of angles of humeral torsion in different parts of the world. Previously described methods were more complicated, not much accurate, cumbersome or required sophisticated instruments. The present study was conducted with the aim to determine the angles of humeral torsion with a newer simple technique using digital images and image tool software. A total of 250 dry normal adult human humeri were obtained from the bone bank of Department of Anatomy. The length and mid-shaft circumference of each bone was measured with the help of measuring tape. The angle of humeral torsion was measured directly from the digital images by the image analysis using Image Tool 3.0 software program. The data was analysed statistically with SPSS version 17 using unpaired t-test and Spearman's rank order correlation coefficient. The mean angle of torsion was 64.57°±7.56°. On the right side it was 66.84°±9.69°, whereas, on the left side it was found to be 63.31±9.50°. The mean humeral length was 31.6 cm on right side and 30.33 cm on left side. Mid shaft circumference was 5.79 on right side and 5.63 cm on left side. No statistical differences were seen in angles between right and left humeri (p>0.001). From our study, it was concluded that circumference of shaft is inversely proportional to angle of humeral torsion. The length and side of humerus has no relation with the humeral torsion. With advancement of digital technology, it is better to use new image softwares for anatomical studies.

Effects of torsion on the thermal conductivity of multi-layer graphene

NASA Astrophysics Data System (ADS)

Si, Chao; Lu, Gui; Cao, Bing-Yang; Wang, Xiao-Dong; Fan, Zhen; Feng, Zhi-Hai

2017-05-01

This work employs the equilibrium molecular dynamics method to study the effects of torsion on the thermal conductivity of multi-layer graphene. Thermal conductivities of twisted 10-layer 433.91 × 99.68 Å2 graphene with torsion angles of 0°, 11.25°, 22.5°, 33.75°, 45°, 67.5°, 90°, 112.5°, and 135° are calculated. The corresponding radial distribution functions and nearest atomic distances are calculated to reveal the effects of torsion on lattice structures. The spectral energy density (SED) method is utilized to analyze the phonon transport properties. It is very interesting that the thermal conductivity of multi-layer graphene decreases slightly at first and then increases with the increasing torsion angle, and the valley is located at θG = 22.5° with the lowest thermal conductivity of 4692.40 W m-1 K-1. The torsion effect can be considered as a combination of the compression effect and the dislocation effect. Further SED analysis confirms that the effect of dislocation on thermal conductivities can be negligible, while the compression effect decreases the phonon lifetimes of flexural out-of-plane acoustic (ZA) branches and increases the ZA group velocities and the phonon specific heat. The decrease becomes dominated when the torsion angle is small, whereas the increase becomes more and more dominated when the torsion angle becomes larger, which are responsible for the reported variation of thermal conductivities.

Decreased Left Ventricular Torsion and Untwisting in Children with Dilated Cardiomyopathy

PubMed Central

Jin, Seon Mi; Bae, Eun Jung; Choi, Jung Yun; Yun, Yong Soo

2007-01-01

The purpose of this study was to analyze left ventricular (LV) torsion and untwisting, and to evaluate the correlation between torsion and other components of LV contraction in children with dilated cardiomyopathy (DCM). Segmental and global rotation, rotational rate (Vrot) were measured at three levels of LV using the two-dimensional (2D) speckle tracking imaging (STI) method in 10 DCM patients (range 0.6-15 yr, median 6.5 yr, 3 females) and 17 age- and sex-matched normal controls. Global torsion was decreased in DCM (peak global torsion; 10.9±4.6° vs. 0.3±2.1°, p<0.001). Loss of LV torsion occurred mainly by the diminution of counterclockwise apical rotation and was augmented by somewhat less reduction in clockwise basal rotation. In DCM, the normal counterclockwise apical rotation was not observed, and the apical rotation about the central axis was clockwise or slightly counterclockwise (peak apical rotation; 5.9±4.1° vs. -0.9±3.1°, p<0.001). Systolic counterclockwise Vrot and early diastolic clockwise Vrot at the apical level were decreased or abolished. In DCM, decreased systolic torsion and loss of early diastolic recoil contribute to LV systolic and diastolic dysfunction. The STI method may facilitate the serial evaluation of the LV torsional behavior in clinical settings and give new biomechanical concepts for better management of patients with DCM. PMID:17728501

Comparison of monocyte gene expression among patients with neurocysticercosis-associated epilepsy, Idiopathic Epilepsy and idiopathic headaches in India.

PubMed

Prabhakaran, Vasudevan; Drevets, Douglas A; Ramajayam, Govindan; Manoj, Josephine J; Anderson, Michael P; Hanas, Jay S; Rajshekhar, Vedantam; Oommen, Anna; Carabin, Hélène

2017-06-01

Neurocysticercosis (NCC), a neglected tropical disease, inflicts substantial health and economic costs on people living in endemic areas such as India. Nevertheless, accurate diagnosis using brain imaging remains poorly accessible and too costly in endemic countries. The goal of this study was to test if blood monocyte gene expression could distinguish patients with NCC-associated epilepsy, from NCC-negative imaging lesion-free patients presenting with idiopathic epilepsy or idiopathic headaches. Patients aged 18 to 51 were recruited from the Department of Neurological Sciences, Christian Medical College and Hospital, Vellore, India, between January 2013 and October 2014. mRNA from CD14+ blood monocytes was isolated from 76 patients with NCC, 10 Recovered NCC (RNCC), 29 idiopathic epilepsy and 17 idiopathic headaches patients. A preliminary microarray analysis was performed on six NCC, six idiopathic epilepsy and four idiopathic headaches patients to identify genes differentially expressed in NCC-associated epilepsy compared with other groups. This analysis identified 1411 upregulated and 733 downregulated genes in patients with NCC compared to Idiopathic Epilepsy. Fifteen genes up-regulated in NCC patients compared with other groups were selected based on possible relevance to NCC, and analyzed by qPCR in all patients' samples. Differential gene expression among patients was assessed using linear regression models. qPCR analysis of 15 selected genes showed generally higher gene expression among NCC patients, followed by RNCC, idiopathic headaches and Idiopathic Epilepsy. Gene expression was also generally higher among NCC patients with single cyst granulomas, followed by mixed lesions and single calcifications. Expression of certain genes in blood monocytes can distinguish patients with NCC-related epilepsy from patients with active Idiopathic Epilepsy and idiopathic headaches. These findings are significant because they may lead to the development of new tools to

Color-coded duplex sonography for diagnosis of testicular torsion.

PubMed

Zoeller, G; Ringert, R H

1991-11-01

By color-coded duplex sonography moving structures are visualized as red or blue colors within a normal gray-scale B-mode ultrasound image. Thus, blood flow even within small vessels can be visualized clearly. Color-coded duplex sonographic examination was performed in 11 patients who presented with scrotal pain. This method proved to be reliable to differentiate between testicular torsion and testicular inflammation. By clearly demonstrating a lack of intratesticular blood flow in testicular torsion, while avoiding flow in scrotal skin vessels being misinterpreted as intratesticular blood flow, this method significantly decreases the number of patients in whom surgical evaluation is necessary to exclude testicular torsion.

5D Lovelock gravity: New exact solutions with torsion

NASA Astrophysics Data System (ADS)

Cvetković, B.; Simić, D.

2016-10-01

Five-dimensional Lovelock gravity is investigated in the first order formalism. A new class of exact solutions is constructed: the Bañados, Teitelboim, Zanelli black rings with and without torsion. We show that our solution with torsion exists in a different sector of the Lovelock gravity, as compared to the Lovelock Chern-Simons sector or the one investigated by Canfora et al. The conserved charges of the solutions are found using Nester's formula, and the results are confirmed by the canonical method. We show that the theory linearized around the background with torsion possesses two additional degrees of freedom with respect to general relativity.

Torsional anharmonicity in the conformational thermodynamics of flexible molecules

NASA Astrophysics Data System (ADS)

Miller, Thomas F., III; Clary, David C.

We present an algorithm for calculating the conformational thermodynamics of large, flexible molecules that combines ab initio electronic structure theory calculations with a torsional path integral Monte Carlo (TPIMC) simulation. The new algorithm overcomes the previous limitations of the TPIMC method by including the thermodynamic contributions of non-torsional vibrational modes and by affordably incorporating the ab initio calculation of conformer electronic energies, and it improves the conventional ab initio treatment of conformational thermodynamics by accounting for the anharmonicity of the torsional modes. Using previously published ab initio results and new TPIMC calculations, we apply the algorithm to the conformers of the adrenaline molecule.

Thermal characterization of phacoemulsification probes operated in axial and torsional modes.

PubMed

Zacharias, Jaime

2015-01-01

To analyze temperature increases and identify potential sources of heat generated when sleeved and sleeveless phacoemulsification probes were operated in axial and torsional modes using the Infiniti Vision System with the Ozil torsional handpiece. Phacodynamics Laboratory, Pasteur Ophthalmic Clinic, Santiago, Chile. Experimental study. Two computer-controlled thermal transfer systems were developed to evaluate the contribution of internal metal stress and tip-to-sleeve friction on heat generation during phacoemulsification using axial and torsional ultrasound modalities. Both systems incorporated infrared thermal imaging and used a black-body film to accurately capture temperature measurements. Axial mode was consistently associated with greater temperature increases than torsional mode whether tips were operated with or without sleeves. In tests involving bare tips, axial mode and torsional mode peaked at 51.7°C and 34.2°C, respectively. In an example using sleeved tips in which a 30.0 g load was applied for 1 second, temperatures for axial mode reached 45°C and for torsional mode, 38°C. Friction between the sleeved probe and the incisional wall contributed more significantly to the temperature increase than internal metal stress regardless of the mode used. In all experiments, the temperature increase observed with axial mode was greater than that observed with torsional mode, even when conditions such as power or amplitude and flow rate were varied. Tip-to-sleeve friction was a more dominant source of phaco probe heating than internal metal stress. The temperature increase due to internal metal stress was greater with axial mode than with torsional mode. Dr. Zacharias received research funding from Alcon Laboratories, Inc., to conduct this study. He has no financial or proprietary interest in any material or method mentioned. Copyright © 2015 ASCRS and ESCRS. Published by Elsevier Inc. All rights reserved.

Instability of ocular torsion in zero gravity - Possible implications for space motion sickness

NASA Technical Reports Server (NTRS)

Diamond, Shirley G.; Markham, Charles H.; Money, Ken E.

1990-01-01

It is proposed that study of the eye torsion reflex and its behavior under novel gravitational states may possibly provide the basis for a long-sought test to predict space motion sickness (SMS). Measures of eye torsion such as ocular counterrolling and spontaneous eye torsion, were examined during hypo- and hypergravity in parabolic flight on the NASA KC-135 aircraft. Ten subjects, including two astronauts, one who had experienced SMS and one who had not, were ranked according to scores of torsional inability at 0 G and divided into two equal groups of high and low susceptibility to SMS. At 1.8 G the groups were significantly different in both the instability measure and the measure of torsional ability. No differences were detected in eye torsion in either 0 G or 1.8 G and none of the tests were significantly different in 1 G. Results suggest that tests of eye torsion on the KC-135 might differentiate those who would experience SMS from those who would not, although it is noted that this is not yet proven.

Inhibitory rTMS applied on somatosensory cortex in Wilson's disease patients with hand dystonia.

PubMed

Lozeron, Pierre; Poujois, Aurélia; Meppiel, Elodie; Masmoudi, Sana; Magnan, Thierry Peron; Vicaut, Eric; Houdart, Emmanuel; Guichard, Jean-Pierre; Trocello, Jean-Marc; Woimant, France; Kubis, Nathalie

2017-10-01

Hand dystonia is a common complication of Wilson's disease (WD), responsible for handwriting difficulties and disability. Alteration of sensorimotor integration and overactivity of the somatosensory cortex have been demonstrated in dystonia. This study investigated the immediate after effect of an inhibitory repetitive transcranial magnetic stimulation (rTMS) applied over the somatosensory cortex on the writing function in WD patients with hand dystonia. We performed a pilot prospective randomized double-blind sham-controlled crossover rTMS study. A 20-min 1-Hz rTMS session, stereotaxically guided, was applied over the left somatosensory cortex in 13 WD patients with right dystonic writer's cramp. After 3 days, each patient was crossed-over to the alternative treatment. Patients were clinically evaluated before and immediately after each rTMS session with the Unified Wilson's Disease rating scale (UWDRS), the Writers' Cramp Rating Scale (WCRS), a specifically designed scale for handwriting difficulties in Wilson's disease patients (FAR, flow, accuracy, and rhythmicity evaluation), and a visual analog scale (VAS) for handwriting discomfort. No significant change in UWDRS, WCRS, VAS, or FAR scores was observed in patients treated with somatosensory inhibitory rTMS compared to the sham protocol. The FAR negatively correlated with UWDRS (r = -0.6; P = 0.02), but not with the WCRS score, disease duration, MRI diffusion lesions, or with atrophy scores. In our experimental conditions, a single inhibitory rTMS session applied over somatosensory cortex did not improve dystonic writer cramp in WD patients.

Extended Reissner-Nordström solutions sourced by dynamical torsion

NASA Astrophysics Data System (ADS)

Cembranos, Jose A. R.; Valcarcel, Jorge Gigante

2018-04-01

We find a new exact vacuum solution in the framework of the Poincaré Gauge field theory with massive torsion. In this model, torsion operates as an independent field and introduces corrections to the vacuum structure present in General Relativity. The new static and spherically symmetric configuration shows a Reissner-Nordström-like geometry characterized by a spin charge. It extends the known massless torsion solution to the massive case. The corresponding Reissner-Nordström-de Sitter solution is also compatible with a cosmological constant and additional U (1) gauge fields.

Sensory tricks and brain excitability in cervical dystonia: a transcranial magnetic stimulation study.

PubMed

Amadio, Stefano; Houdayer, Elise; Bianchi, Francesca; Tesfaghebriel Tekle, Habtom; Urban, Ivan Pietro; Butera, Calogera; Guerriero, Roberta; Cursi, Marco; Leocani, Letizia; Comi, Giancarlo; Del Carro, Ubaldo

2014-08-01

Sensory tricks such as touching the face with fingertips often improve cervical dystonia [CD]. This study is to determine whether sensory tricks modulate motor cortex excitability, assessed by paired-pulse transcranial magnetic stimulation [p-pTMS]. Eight patients with rotational CD underwent p-pTMS, at rest and when the sensory trick was applied. To test intracortical inhibition [ICI] and facilitation [ICF], the amplitude ratio between conditioned and unconditioned cortical motor evoked potentials was measured at several interstimulus intervals (ISI 1, 3, 15, and 20 ms) and compared with controls mimicking patients' sensory tricks. At rest, a significant ICF enhancement was found at ISIs 15 through 20 in patients compared with controls, whereas no significant ICI changes were observed. Sensory tricks significantly reduced the abnormal ICF in patients and did not induce any change in controls. In our CD patients, sensory tricks seem to improve dystonia through an inhibitory effect on motor cortex excitability. © 2014 International Parkinson and Movement Disorder Society.

Damping system for torsion modes of mirror isolation filters in TAMA300

NASA Astrophysics Data System (ADS)

Arase, Y.; Takahashi, R.; Arai, K.; Tatsumi, D.; Fukushima, M.; Yamazaki, T.; Fujimoto, Masa-Katsu; Agatsuma, K.; Nakagawa, N.

2008-07-01

The seismic attenuation system (SAS) in TAMA300 consists of a three-legged inverted pendulum and mirror isolation filters in order to provide a high level of seismic isolation. However, the mirror isolation filters have torsion modes with long decay time which disturb the interferometer operation for about half an hour if they get excited. In order to damp the torsion modes of the filters, we constructed a digital damping system using reflective photosensors with a large linear range. This system was installed to all of four SASs. By damping of the target torsion modes, the effective quality factors of the torsion modes are reduced to less than 10 or to unmeasurable level. This system is expected to reduce the inoperative period by the torsion mode excitation, and thus will contribute to improve the duty time of the gravitational wave detector.

Energy harvesting from torsions of patterned piezoelectrics

NASA Astrophysics Data System (ADS)

Cha, Youngsu; You, Hangil

2018-03-01

In this paper, we investigate the feasibility of energy harvesting from the torsions using a piezoelectric beam. The piezoelectric beam is partially patterned and is tested in an experimental setup to force pure torsional deformation. In particular, the beam consists of two identical piezoelectric parts attached on one side of a supporting substrate. We propose a model for the energy harvesting system through the equations for a slender composite beam with the physical properties and the electromechanical coupling equations of the piezoelectric material. The theoretical predictions are validated by the comparison with the experimental results.

Raman spectra of gases. XVI - Torsional transitions in ethanol and ethanethiol

NASA Technical Reports Server (NTRS)

Durig, J. R.; Bucy, W. E.; Wurrey, C. J.; Carreira, L. A.

1975-01-01

The Raman spectra of gaseous ethanol and ethanethiol have been investigated. Thiol torsional fundamentals for the gauche conformer of EtSH and EtSD have been observed and the asymmetric potential function for this vibration has been calculated. Methyl torsional transitions and overtones have also been observed for both of these molecules. Barriers to internal rotation for the methyl top are calculated to be 3.77 and 3.84 kcal/mol for the EtSH and EtSD compounds, respectively. Hydroxyl torsional fundamentals were observed at 207 and 170 per cm in the EtOH and EtOD spectra, respectively. Overtones of the methyl torsion in both molecules yield a barrier to internal rotation of 3.62 kcal/mol for the gauche conformer.

Rat disc torsional mechanics: effect of lumbar and caudal levels and axial compression load.

PubMed

Espinoza Orías, Alejandro A; Malhotra, Neil R; Elliott, Dawn M

2009-03-01

Rat models with altered loading are used to study disc degeneration and mechano-transduction. Given the prominent role of mechanics in disc function and degeneration, it is critical to measure mechanical behavior to evaluate changes after model interventions. Axial compression mechanics of the rat disc are representative of the human disc when normalized by geometry, and differences between the lumbar and caudal disc have been quantified in axial compression. No study has quantified rat disc torsional mechanics. Compare the torsional mechanical behavior of rat lumbar and caudal discs, determine the contribution of combined axial load on torsional mechanics, and compare the torsional properties of rat discs to human lumbar discs. Cadaveric biomechanical study. Cyclic torsion without compressive load followed by cyclic torsion with a fixed compressive load was applied to rat lumbar and caudal disc levels. The apparent torsional modulus was higher in the lumbar region than in the caudal region: 0.081+/-0.026 (MPa/degrees, mean+/-SD) for lumbar axially loaded; 0.066+/-0.028 for caudal axially loaded; 0.091+/-0.033 for lumbar in pure torsion; and 0.056+/-0.035 for caudal in pure torsion. These values were similar to human disc properties reported in the literature ranging from 0.024 to 0.21 MPa/degrees. Use of the caudal disc as a model may be appropriate if the mechanical focus is within the linear region of the loading regime. These results provide support for use of this animal model in basic science studies with respect to torsional mechanics.

[Correlation analysis on the disorders of patella-femoral joint and torsional deformity of tibia].

PubMed

Sun, Zhen-Jie; Yuan, Yi; Liu, Rui-Bo

2015-03-01

To reveal the possible mechanism involved in patella-femoral degenerative arthritis (PFDA) in- duced by torsion-deformity of tibia via analyzing the relationship between torsion-deformity of the tibia in patients with PFDA and the disorder of patella-femoral joint under the static and dynamic conditions. From October 2009 to October 2010, 50 patients (86 knees, 24 knees of male patients and 62 knees of female patients) with PFDA were classified as disease group and 16 people (23 knees, 7 knees of males and 16 knees of females) in the control group. The follow indexes were measured: the torsion-angle of tibia on CT scanning imagings, the patella-femoral congruence angle and lateral patella-femoral angle under static and dynamic conditions when the knee bent at 30 degrees of flexion. Based on the measurement results, the relationship between the torsion-deformity of tibias and the disorders of patella-femoral joints in patients with PFDA were analyzed. Finally,the patients were divided into three groups including large torsion-angle group, small torsion-angle group and normal group according to the size of torsion-angle, in order to analyze the relationship between torsion-deformity and disorders of patella-femoral joint, especially under the dynamic conditions. Compared with patients without PFDA, the ones with PFDA had bigger torsion-angle (30.30 ± 7.11)° of tibia, larger patella-femoral congruence angle (13.20 ± 3.94)° and smaller lateral patella-femoral angle (12.30 ± 3.04)°. The congruence angle and lateral patella-femoral angle under static and dynamic conditions had statistical differences respectively in both too-big torsion-angle group and too-small torsion-angle group. The congruence angle and lateral patella-femoral angle under static and dynamic conditions had no statistical differences in normal torsion-angle group. Torsion-deformity of tibia is the main reason for disorder of patella-femoral joint in the patients with PFDA. Torsion-deformity of

Ionic polymer-metal composite torsional sensor: physics-based modeling and experimental validation

NASA Astrophysics Data System (ADS)

Aidi Sharif, Montassar; Lei, Hong; Khalid Al-Rubaiai, Mohammed; Tan, Xiaobo

2018-07-01

Ionic polymer-metal composites (IPMCs) have intrinsic sensing and actuation properties. Typical IPMC sensors are in the shape of beams and only respond to stimuli acting along beam-bending directions. Rod or tube-shaped IPMCs have been explored as omnidirectional bending actuators or sensors. In this paper, physics-based modeling is studied for a tubular IPMC sensor under pure torsional stimulus. The Poisson–Nernst–Planck model is used to describe the fundamental physics within the IPMC, where it is hypothesized that the anion concentration is coupled to the sum of shear strains induced by the torsional stimulus. Finite element simulation is conducted to solve for the torsional sensing response, where some of the key parameters are identified based on experimental measurements using an artificial neural network. Additional experimental results suggest that the proposed model is able to capture the torsional sensing dynamics for different amplitudes and rates of the torsional stimulus.

Isolated torsion of fallopian tube during pregnancy; report of two cases.

PubMed

Yalcin, O T; Hassa, H; Zeytinoglu, S; Isiksoy, S

1997-08-01

Isolated torsion of fallopian tube is very uncommon during pregnancy. Predisposing factors for torsion are hydrosalpinx, prior tubal operation, pelvic congestion, ovarian and paraovarian masses and trauma. Although the most important clinical symptom is abdominal pain in lower quadrants, the diagnosis is usually established during the operation performed for acute abdomen and salpingectomy is almost always necessary. Two cases of torsion of fallopian tube during pregnancy, one with hydrosalpinx, the other with paratubal cyst are presented and symptoms and predisposing factors are discussed.

TT-Cut Torsional Quartz Crystal Resonators of Free-Free Bar-Type

NASA Astrophysics Data System (ADS)

Kawashima, Hirofumi; Nakazato, Mitsuhiro

1994-05-01

This paper describes a TT-cut torsional quartz crystal resonator of free-free bar type. An object of this paper is to clarify the frequency temperature behavior, series resistance and a quality factor for TT-cut torsional quartz crystal resonators of free-free bar-type. The analysis results are then compared with the measured data. The principal results indicate that the calculated values of frequency temperature behavior for resonators of free-free bar-type agree comparatively well with the measured ones. Similar to the torsional resonators of tuning fork-type, a torsional quartz crystal resonator of free-free bar-type is also found to have an absolute value of the second order temperature coefficient β smaller than half a value of that for a flexural mode quartz crystal resonator.

Nature of the ``yield tooth'' under torsion in plastic-deformed whiskers

NASA Astrophysics Data System (ADS)

Bataronov, I. L.; Belikov, A. M.; Drozhzhin, A. I.; Roshchupkin, A. M.

1987-07-01

The plastic torsion of whiskers with high Peierls barriers has been studied. As the samples for the studies we chose p-type germanium whiskers with <111> growth axis. The diameter of the whisker was (5 60)·10-6 m and the gauge length was (1 4)·10-3 m. The whiskers were dislocation-free in the initial state. Within the framework of the continuum model developed by us for the plastic deformation of whiskers under torsion, we analyze the anomalies of the torsional stress-strain diagram under different testing conditions and with preliminary deformation. The “flow tooth” during the torsion of a whisker is attributable to the nonuniform distribution of dislocations over the cross section of the whisker and high barriers to the dislocation motion.

The Spectrum of Torsional Oscillations of the Moon

NASA Astrophysics Data System (ADS)

Gudkova, T. V.; Zharkov, V. N.

2000-11-01

The diagnostic potentialities of the torsional oscillations for probing the structure of the interiors of the Moon are investigated. Models with no core, a liquid core, and a solid core are considered. The profiles of compressional and shear wave velocities V_P and V_S for the lunar interior estimated by Bills and Ferrari (1977), Goins et al. (1981), and Nakamura (1983) from the Apollo lunar seismic network are used. For all these models, the periods of torsional oscillations for n = 2-100 and four overtones have been calculated. The derivatives of the dimensionless eigenfrequency with respect to the dimensionless shear modulus and density are calculated and tabulated for use. These data can be used to determine corrections to the model density and shear modulus distributions due to their small change. The damping of torsional oscillations is studied. Several trial radial distributions of the dissipative function Q are considered.

Selective decrease in central nervous system serotonin turnover in children with dopa-nonresponsive dystonia.

PubMed

Assmann, Birgit; Köhler, Martin; Hoffmann, Georg F; Heales, Simon; Surtees, Robert

2002-07-01

Childhood dystonia that does not respond to treatment with levodopa (dopa-nonresponsive dystonia, DND) has an unclear pathogenesis and is notoriously difficult to treat. To test the hypothesis that there may be abnormalities in serotonin turnover in DND we measured cerebrospinal fluid (CSF) concentrations of homovanillic (HVA) and 5-hydroxyindoleacetic (HIAA) acids, metabolites of dopamine and serotonin, respectively, in 18 children with dystonia not responsive to levodopa. These were combined with a reference population of 85 children with neurologic or metabolic disease known not to affect dopamine or serotonin metabolism. Because of the known natural age-related decrement in HVA and HIAA concentrations, the results were analyzed using multiple regression using age and DND as predictors of CSF HIAA and HVA concentrations. DND was a highly significant predictor of CSF HIAA concentration (p < 0.001) but not of CSF HVA concentration (p = 0.59). After fitting a regression model, the geometric mean ratio of CSF HIAA in DND compared with the reference range was 0.53 whereas that for CSF HVA was 0.95. We also analyzed CSF HIAA/HVA ratios. After fitting a regression model, we found no dependence on age, and the mean of CSF HIAA/HVA in DND was 0.28 whereas that for the reference range was 0.49 (p < 0.001). We conclude that a significant number of children with DND have reduced CNS serotonin turnover. Treatment with drugs that increase serotonin concentration in the synaptic cleft should be considered in this group of patients.

Magnesium: does it reduce ischemia/reperfusion injury in an adnexal torsion rat model?

PubMed Central

Celik Kavak, Ebru; Gulcu Bulmus, Funda; Bulmus, Ozgur; Kavak, Salih Burcin; Kocaman, Nevin

2018-01-01

Aim The aim of the present study was to assess the protective effects of magnesium sulfate (MgSO4) on ischemia/reperfusion (I/R) induced ovarian damage in a rat ovarian torsion model. Methods Forty-two female Sprague Dawley rats were included in the study. They were divided into six groups as Group 1, sham; Group 2, bilateral ovarian torsion; Group 3, bilateral ovarian torsion–detorsion; Group 4, MgSO4–sham; Group 5, MgSO4–bilateral ovarian torsion; Group 6, bilateral ovarian torsion–MgSO4–detorsion. Both torsion and detorsion periods lasted 3 hours. In Groups 4, 5 and 6, MgSO4 (600 mg/kg) was administered by intraperitoneal route 30 minutes before sham operation, torsion and detorsion, respectively. At the end of the study period, both ovaries were removed. One of the ovaries was used for histopathological analyses and the other for biochemical analyses. Results In the torsion–detorsion group, all the histopathological scores were higher compared to the sham and torsion only group (p<0.05). Administration of MgSO4 only caused significant decrease in the inflammatory cell scores of the torsion–detorsion group (p<0.05). MgSO4, whether given before torsion or before detorsion, suppressed malondialdehyde levels when compared to the untreated groups (p<0.01 and p<0.001, respectively). Glutathione peroxidase activities were significantly higher in the MgSO4 applied torsion and detorsion groups than Groups 2 and 3 (p<0.05, for both). Administration of MgSO4 also caused an increase in glutathione levels in the torsion and detorsion groups compared to the torsion only and detorsion only groups (p<0.05, for both). Also, total oxidant status levels decreased in the MgSO4 applied torsion and detorsion groups compared to the untreated corresponding ones (p<0.01 and p<0.001, respectively). MgSO4 significantly decreased the Oxidative Stress Index levels in the torsion–detorsion group compared to Group 2 (p<0.001). Conclusion Histopathological and biochemical

Human ocular torsion during parabolic flights: an analysis with scleral search coil

NASA Technical Reports Server (NTRS)

Cheung, B. S.; Money, K.; Howard, I.; Kirienko, N.; Johnson, W.; Lackner, J.; Dizio, P.; Evanoff, J.

1992-01-01

Rotation of the eyes about the visual axis is known as ocular torsion. A lateral inclination (a "roll") of the head induces ocular torsion in the opposite direction, a response known as ocular counterrolling. For six subjects, we recorded the static (head still) and dynamic (head in oscillatory roll motion) ocular torsion in normal 1 g condition and also during the microgravity and hypergravity periods of parabolic flight, using the electromagnetic scleral search coil technique. With the head still, the direction and magnitude of torsion that occurred in response to microgravity and hypergravity differed substantially from one individual to another, but there was a significant difference in torsional magnitude between the microgravity and hypergravity periods, for all static head positions including the upright position. Under normal 1 g conditions, counterrolling compensated for about 16% of (voluntary) static head roll, while dynamic counterroll was much larger, up to 36% of head roll at 0.55 Hz. With increasing frequency of head oscillation between 0.33 Hz and 0.55 Hz, the gain of counterrolling increased and there was no change in the phase relationship. The gain of dynamic counterroll (in response to voluntary head rolling) was not significantly less in hypogravity, suggesting that on the ground at these frequencies the contribution of gravity and gravity receptors to this reflex is redundant: this reflex is probably driven by the semicircular canals. In some subjects, the torsional displacement in microgravity is accompanied by micro-torsional oscillatory motion.

Rat Disc Torsional Mechanics: Effect of Lumbar and Caudal Levels and Axial Compression Load

PubMed Central

Elliott, Dawn M; Espinoza Orías, Alejandro A; Malhotra, Neil R

2009-01-01

Background Context Rat models with altered loading are used to study disc degeneration and mechano-transduction. Given the prominent role of mechanics in disc function and degeneration, it is critical to measure mechanical behavior in order to evaluate changes following model interventions. Axial compression mechanics of the rat disc are representative of the human disc when normalized by geometry, and differences between the lumbar and caudal disc have been quantified in axial compression. No study has quantified rat disc torsional mechanics. Purpose Compare the torsional mechanical behavior of rat lumbar and caudal discs, determine the contribution of combined axial load on torsional mechanics, and compare the torsional properties of rat discs to human lumbar discs. Study Design Cadaveric biomechanical study. Methods Cyclic torsion without compressive load followed by cyclic torsion with a fixed compressive load was applied to rat lumbar and caudal disc levels. Results The apparent torsional modulus was higher in the lumbar region than in the caudal region,: 0.081±0.026 (MPa/°, Mean±SD) for lumbar axially loaded; 0.066±0.028 caudal axially loaded; 0.091±0.033 for lumbar in pure torsion; and 0.056±0.035 for caudal in pure torsion. These values were similar to human disc properties reported in the literature ranging from 0.024 to 0.21 MPa/°. Conclusions Use of the caudal disc as a model may be appropriate if the mechanical focus is within the linear region of the loading regime. These results provide support for use of this animal model in basic science studies with respect to torsional mechanics. PMID:18495544

Faraday Rotation and Primordial Magnetic Fields Constraints on Ultraviolet Lorentz Violation with Spacetime Torsion

NASA Astrophysics Data System (ADS)

de Andrade, L. C. Garcia

Recently Kahniashvili et al.9 presented a unified treatment for ultraviolet Lorentz violation (LV) testing through electromagnetic wave propagation in magnetized plasmas, based on dispersion and rotation measured data. Based on the fact discovered recently by Kostelecky et al., 3 that LV may place constraints on spacetime torsion, in this paper it is shown that on the limit of very low frequency torsion waves, it is possible to constraint torsion from Faraday rotation and CMB on a similar fashion as Minkowski spacetime plus torsion. Here, the Maxwells modified equations are obtained by a perturbative method introduced by de Sabbata and Gasperini [Introduction to Gravitation (World Scientific, 1980)]. Torsion is constraint to QCMB≈10-18 GeV which is not so stringent as the 10-31 GeV obtained by Kostelecky et al. However, Gamma-Ray Bursts (GRBs) may lead to the more string value obtained by Kostelecky et al.Another interesting constraint on torsion is shown to be placed by galactic dynamo seed magnetic fields. For torsion effects be compatible with the galactic dynamo seeds, one obtains a torsion constraint of 10-33 GeV which is two orders of magnitude more stringent that the above Kostelecky et al. limit.

The effect of neck torsion on postural stability in subjects with persistent whiplash.

PubMed

Yu, Li-Ju; Stokell, Raina; Treleaven, Julia

2011-08-01

Dysfunction of cervical receptors in neck disorders has been shown to lead to disturbances in postural stability. The neck torsion manoeuvre used in the smooth pursuit neck torsion (SPNT) test is thought to be a specific measure of neck afferent dysfunction on eye movement in those with neck pain. This study aimed to determine whether neck torsion could change balance responses in those with persistent whiplash-associated disorders (WADs). Twenty subjects with persistent WAD and 20 healthy controls aged between 18 and 50 years stood on a computerised force plate with eyes closed in comfortable stance under 5 conditions: neutral head, head turned to left and right and neck torsion to left and right. Root mean square (rms) amplitude of sway was measured in the anterior-posterior (AP) and medial-lateral (ML) directions. The whiplash group had significantly greater rms amplitude in the AP direction following neck torsion compared to the control group (p < 0.03). The results show that the neck torsion manoeuvre may lead to greater postural deficits in individuals with persistent WAD and provides further evidence of neck torsion to identify abnormal cervical afferent input, as an underlying cause of balance disturbances in WAD. Further research is warranted. Crown Copyright © 2011. Published by Elsevier Ltd. All rights reserved.

Haptic Feedback Manipulation During Botulinum Toxin Injection Therapy for Focal Hand Dystonia Patients: A Possible New Assistive Strategy.

PubMed

Atashzar, Seyed Farokh; Shahbazi, Mahya; Ward, Christopher; Samotus, Olivia; Delrobaei, Mehdi; Rahimi, Fariborz; Lee, Jack; Jackman, Mallory; Jog, Mandar S; Patel, Rajni V

2016-01-01

Abnormality of sensorimotor integration in the basal ganglia and cortex has been reported in the literature for patients with task-specific focal hand dystonia (FHD). In this study, we investigate the effect of manipulation of kinesthetic input in people living with writer's cramp disorder (a major form of FHD). For this purpose, severity of dystonia is studied for 11 participants while the symptoms of seven participants have been tracked during five sessions of assessment and Botulinum toxin injection (BoNT-A) therapy (one of the current suggested therapies for dystonia). BoNT-A therapy is delivered in the first and the third session. The goal is to analyze the effect of haptic manipulation as a potential assistive technique during BoNT-A therapy. The trial includes writing, hovering, and spiral/sinusoidal drawing subtasks. In each session, the subtasks are repeated twice when (a) a participant uses a normal pen, and (b) when the participant uses a robotics-assisted system (supporting the pen) which provides a compliant virtual writing surface and manipulates the kinesthetic sensory input. The results show (p-value using one-sample t-tests) that reducing the writing surface rigidity significantly decreases the severity of dystonia and results in better control of grip pressure (an indicator of dystonic cramping). It is also shown that (p-value based on paired-samples t-test) using the proposed haptic manipulation strategy, it is possible to augment the effectiveness of BoNT-A therapy. The outcome of this study is then used in the design of an actuated pen as a writing-assistance tool that can provide compliant haptic interaction during writing for FHD patients.

Ovarian torsion: diagnostic features on CT and MRI with pathologic correlation.