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Sample records for pressure palsies hnpp

  1. CNS involvement in hereditary neuropathy with pressure palsies (HNPP).

    PubMed

    Tackenberg, B; Möller, J C; Rindock, H; Bien, S; Sommer, N; Oertel, W H; Rosenow, F; Schepelmann, K; Hamer, H M; Bandmann, O

    2006-12-26

    We assessed seven patients with hereditary neuropathy with liability to pressure palsies (HNPP) with 16 electrophysiological tests and cranial MRI for CNS abnormalities. Mean latencies differed between patients with HNPP and controls for the blink reflex, the jaw-opening reflex, and acoustic evoked potentials. MRI abnormalities were observed in four patients. Our study suggests subclinical but functionally relevant CNS myelin damage in HNPP.

  2. Phenotype HNPP (Hereditary Neuropathy With Liability to Pressure Palsies) Induced by Medical Procedures.

    PubMed

    Kramer, Mark; Ly, Amy; Li, Jun

    2016-01-01

    The phenotype HNPP (hereditary neuropathy with liability to pressure palsies) is caused by heterozygous deletion of the PMP22 gene. HNPP is clinically characterized by asymmetric focal sensory loss and muscle weakness. Reports of HNPP have been rare. In this article, we report the case of an asymptomatic woman with the HNPP mutation. After undergoing total knee arthroplasty, she developed a footdrop with prolonged recovery. We concluded (a) that the HNPP mutation may carry a high risk for certain surgical procedures not expected to cause neurologic deficits in normal patients and (b) that humans with the HNPP mutation can be asymptomatic. Lack of symptoms can contribute to underrecognition of the disease.

  3. Phenotype HNPP (Hereditary Neuropathy With Liability to Pressure Palsies) Induced by Medical Procedures

    PubMed Central

    Kramer, Mark; Ly, Amy; Li, Jun

    2016-01-01

    The phenotype HNPP (hereditary neuropathy with liability to pressure palsies) is caused by heterozygous deletion of the PMP22 gene. HNPP is clinically characterized by asymmetric focal sensory loss and muscle weakness. Reports of HNPP have been rare. In this article, we report the case of an asymptomatic woman with the HNPP mutation. After undergoing total knee arthroplasty, she developed a footdrop with prolonged recovery. We concluded (a) that the HNPP mutation may carry a high risk for certain surgical procedures not expected to cause neurologic deficits in normal patients and (b) that humans with the HNPP mutation can be asymptomatic. Lack of symptoms can contribute to underrecognition of the disease. PMID:26761923

  4. DNA analysis in Finnish patients with hereditary neuropathy with liability to pressure palsies (HNPP).

    PubMed Central

    Silander, K; Halonen, P; Sara, R; Kalimo, H; Falck, B; Savontaus, M L

    1994-01-01

    Hereditary neuropathy with liability to pressure palsies (HNPP) is a dominantly inherited disorder that presents as recurrent mononeuropathies precipitated by apparently trivial traumas. The presence of a deletion in 17p11.2 was analysed in 13 Finnish families with HNPP. The deletion was found in all patients who were neurologically and neurophysiologically confirmed to have HNPP. In the problematic cases the detection of the gene defect is the method of choice in the diagnosis of HNPP. Analysis of DNA can also be used to detect clinically unaffected family members. Images PMID:7931393

  5. DNA analysis in Finnish patients with hereditary neuropathy with liability to pressure palsies (HNPP).

    PubMed

    Silander, K; Halonen, P; Sara, R; Kalimo, H; Falck, B; Savontaus, M L

    1994-10-01

    Hereditary neuropathy with liability to pressure palsies (HNPP) is a dominantly inherited disorder that presents as recurrent mononeuropathies precipitated by apparently trivial traumas. The presence of a deletion in 17p11.2 was analysed in 13 Finnish families with HNPP. The deletion was found in all patients who were neurologically and neurophysiologically confirmed to have HNPP. In the problematic cases the detection of the gene defect is the method of choice in the diagnosis of HNPP. Analysis of DNA can also be used to detect clinically unaffected family members.

  6. Hereditary neuropathy with liability to pressure palsy (HNPP) in childhood: a case study emphasizing the relevance of detailed electrophysiological examination for suspected HNPP in the first decade.

    PubMed

    Bayrak, Ayşe Oytun; Battaloglu, Esra; Turker, Hande; Baris, Ibrahim; Oztas, Gurkan

    2009-06-01

    Hereditary neuropathy with liability to pressure palsy (HNPP) is an autosomal dominant disorder characterized by recurrent mono-neuropathies secondary to minor trauma or compression. Whilst typical episodes of palsy generally become apparent during the second and the third decades, HNPP is rarely diagnosed in the first decade. We present the case of a 6-year-old patient to draw attention to the possibility of HNPP attacks in the first decade and the importance of detailed electrophysiological examination.

  7. [Hereditary neuropathy with liability to pressure palsy (HNPP): a diagnostic trap].

    PubMed

    Ragois, P; Didailler, P; Rizzi, P

    2013-09-01

    The authors report two clinical cases of a rarely observed pathology in orthopedic surgery daily practice: hereditary neuropathy with liability to pressure palsy (HNPP), which leads to dysesthesiae, hypoesthesiae and regressive palsies. Onset, clinical signs and electromyographic abnormalities are described. Forensic consequences can occur in early postoperative period. Knowledge of this familial pathology allows precautionary measures at surgery and avoids unnecessary surgical revisions.

  8. Epidemiology of hereditary neuropathy with liability to pressure palsies (HNPP) in south western Finland.

    PubMed

    Meretoja, P; Silander, K; Kalimo, H; Aula, P; Meretoja, A; Savontaus, M L

    1997-12-01

    An epidemiological study of hereditary neuropathy with liability to pressure palsies (HNPP) was carried out in south western Finland, with a population of 435,000. The diagnosis was established in 69 patients from 23 unrelated families through family and medical history, clinical neurological and neurophysiological examinations and with documentation of the deletion at gene locus 17p11.2 in at least one member of each family. This gave a prevalence of at least 16/100,000, which is remarkably high. However, due to the insidious nature of HNPP, most probably it is still an underestimation. This is the first population-based prevalence figure reported for HNPP. The prevalence is somewhat lower than that obtained for CMT in the same population, which agrees with the proposal that HNPP and CMT 1A are reciprocal products of the same unequal crossing-over. The clinical pictures of our patients were, in general, similar to those previously described in HNPP.

  9. Characteristic features of hereditary neuropathy with liability to pressure palsy (HNPP) presenting with brachial plexopathy in soldiers.

    PubMed

    Kim, Kyoung-Eun

    2014-11-15

    A brachial plexus lesion is not common in hereditary neuropathy with liability to pressure palsy (HNPP). We report the clinical and electrodiagnostic features of young soldiers with HNPP presenting with brachial plexopathy. By reviewing 2year medical records from Korean military hospitals, we identified soldiers with brachial plexus lesions. Among them, patients diagnosed with HNPP were determined and clinical and electrophysiological findings were compared between HNPP and non-HNPP patients with a brachial plexus lesion. Thirteen patients (6.8%) were diagnosed with HNPP among 189 patients with a brachial plexus lesion. Push-ups, as either a punishment or an exercise, was the most frequent preceding event in HNPP patients (76.9%), whereas it was rare in non-HNPP patients. The distal motor latency of the median nerve showed the highest sensitivity (90.9%) and specificity (100%) for HNPP in patients with a brachial plexus lesion. In conclusion, HNPP should be suspected in patients with brachial plexopathy if brachial plexopathy develops after push-ups or if the distal motor latency of median nerves is prolonged.

  10. Moving toes and myoclonus associated with hereditary neuropathy with liability to pressure palsy (HNPP).

    PubMed

    Shaibani, A; Gooch, C; Harati, Y

    1997-07-01

    A 22-year-old male awoke with right foot drop and numbness. Nerve conduction studies, sural nerve biopsy, and molecular genetic analysis were consistent with hereditary neuropathy with liability to pressure palsy (HNPP). Two months later he developed involuntary flexion/extension movements of the right toes with associated intermittent dystonic flexion of the right foot. Over the next 2 months these movements spread to the left foot and hand and myoclonus of the left trapezius and rhomboid appeared. This is the first case report of moving toes syndrome and segmental myoclonus in association with HNPP. The temporal and topographic patterns of spread of the abnormal movements suggest a central mechanism probably induced by peripheral pathology.

  11. [A case of hereditary neuropathy with liability to pressure palsies (HNPP) with diabetes mellitus].

    PubMed

    Yasuda, T; Hakusui, S; Ando, T; Yanagi, T; Yamamoto, M; Sobue, G

    1996-08-01

    Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant neuropathy recently reported to be associated with deletion of the peripheral myelin protein-22 (PMP-22) gene. We report a 39-year-old man with recurrent brachial plexopathy and foot drop complicated by uncontrolled diabetes mellitus (DM). Right foot drop occurred at 31 years of the age and the patient subsequently experienced difficulty in raising his right arm. Neurological examination revealed weakness of the right deltoid, biceps muscles and tibialis anterior muscles. Deep tendon reflexes were generally absent. Sensory nerve conduction velocities in th ulnar, median and sural nerves were prolonged. Serum glucose and HB Alc levels were elevated to 468 mg/dl and 12.5%, respectively. Initially, it was difficult to diagnose the neuropathy as HNPP because the patient had poorly controlled diabetes mellitus and was unaware of similar disease in his family. In addition, focal asymmetric motor neuropathy and good recovery can develop in diabetes mellitus, occasionally with recurrence. We were able to make a final diagnosis of HNPP by detecting deletion of the PMP-22 gene region. After the diagnosis was confirmed, we examined the patient's family and found that his father experienced recurrent episodes of bilateral foot drop. This case suggests that gene analysis is sometimes essential in the differential diagnosis of hereditary peripheral neuropathies.

  12. A report of hereditary neuropathy with liability to pressure palsy (HNPP) presenting with brachial plexopathy: the value of complete electrodiagnostic testing.

    PubMed

    Bulusu, Srinivas; McMillan, Hugh J

    2011-09-01

    Patients with hereditary neuropathy with liability to pressure palsy (HNPP) typically present with a mononeuropathy (particularly peroneal or ulnar palsy) or a brachial plexopathy. Careful electrodiagnostic testing has an important role in establishing the diagnosis of HNPP differentiating this condition from other inherited or acquired neuropathies as well as obviating the need for unnecessary surgeries. We present a case of a patient who presented with a painless brachial plexopathy who was found to have multiple sites of segmental demyelination on nerve conduction studies, consistent with HNPP. We review the clinical and electrodiagnostic features of HNPP including the key electrodiagnostic findings to screen for this disorder.

  13. Mutational analysis of Greek patients with suspected hereditary neuropathy with liability to pressure palsies (HNPP): a 15-year experience.

    PubMed

    Karadima, Georgia; Koutsis, Georgios; Raftopoulou, Maria; Karletidi, Karolina-Maria; Zambelis, Thomas; Karandreas, Nikolaos; Panas, Marios

    2015-06-01

    There has been limited information from population studies regarding the overall frequency of the common 1.5-Mb 17p11.2 deletion and even scarcer data regarding the overall frequency of PMP22 micromutations in patients with a clinical suspicion of hereditary neuropathy with liability to pressure palsies (HNPP). We have analysed 100 consecutive Greek patients referred for HNPP genetic testing over a 15-year period to our Neurogenetics Unit in Athens, a reference centre for all regions of Greece. All patients were screened for the 1.5-Mb deletion and a selected subgroup of deletion-negative patients for PMP22 micromutations. Mutation-positive and mutation-negative patients were compared for various clinical parameters. In total, 54 mutation-positive patients were identified. In index cases, the deletion frequency was 47.8%, and the PMP22 micromutation frequency was 2.2%. Within mutation-positive patients, the common deletion represented 95.7% and PMP22 micromutations 4.3% of cases. Two previously reported PMP22 micromutations (c.364_365delCC and c.79-2A>G) were detected. HNPP index cases had a 2.8-1 male-to-female ratio, similar to mutation-negative patients. A typical phenotype (recurrent or isolated palsies) was present in 82.4% of symptomatic HNPP cases, significantly higher than mutation-negative patients. Sensitivity of proposed electrophysiological diagnostic criteria for HNPP was calculated at 95.7% and specificity at 80.5%. In conclusion, the common HNPP deletion accounts for ∼50% and PMP22 micromutations for ∼2% of cases in a large consecutive cohort of patients with suspected HNPP. The mutational and phenotypic spectrum of HNPP is similar in the Greek population compared with other populations. Proposed electrophysiological diagnostic criteria perform satisfactorily in everyday clinical practice.

  14. DTI Study of Cerebral Normal-Appearing White Matter in Hereditary Neuropathy With Liability to Pressure Palsies (HNPP)

    PubMed Central

    Wang, Wei-wei; Song, Chun-li; Huang, Liang; Song, Qing-wei; Liang, Zhan-hua; Wei, Qiang; Hu, Jia-ni; Miao, Yan-wei; Wu, Bing; Xie, Lizhi

    2015-01-01

    Abstract The majority of previous studies on hereditary neuropathy with liability to pressure palsies (HNPP) were focused on peripheral nerves, whereas cerebral alterations in HNPP have been less attended to. In this work, Diffusion tensor imaging (DTI) was used to detect the changes in WM, especially in the normal-appearing white matter (NAWM) in HNPP patients for its sensitivity in probing the microstructure of WM, the sensitive metric was searched for probing cerebral alterations and the regional distribution of cerebral abnormalities was identified. Twelve HNPP patients and 12 age- and gender-matched healthy controls underwent the conventional MRI, DTI scan, and electrophysiological examination. The conventional MRI images were first analyzed to identify abnormal intense regions and the NAWM regions. NAWM refers to the white matter regions that do not include the lesions on conventional MRI. The apparent diffusion coefficient and fractional anisotropy (FA) values of the NAWM were then measured and compared between patient and control groups. The sensitivity and specificity of 3 methods and the cerebral regional distribution of MR signal abnormalities were further analyzed. Hyperintense foci were observed on T2 weighted image and fluid attenuated inversion recovery images in 6 patients. Compared to the controls, FA values of the patients were significantly lower in bilateral frontal, orbitofrontal, and temporal NAWMs; whereas the electrophysiological examination results of patients and controls exhibited no statistically significant difference. The sensitivity of FA value was higher than that of electrophysiological examination and conventional MRI. The majority of abnormal signals on conventional MRI images and abnormal FA values were located in the frontal and temporal lobes. The results of our study show cerebral WM changes in HNPP patients. FA value in DTI has been shown to be sensitive to the cerebral microstructural changes in HNPP. The frontal lobe is the

  15. DTI Study of Cerebral Normal-Appearing White Matter in Hereditary Neuropathy With Liability to Pressure Palsies (HNPP).

    PubMed

    Wang, Wei-Wei; Song, Chun-Li; Huang, Liang; Song, Qing-Wei; Liang, Zhan-Hua; Wei, Qiang; Hu, Jia-Ni; Miao, Yan-Wei; Wu, Bing; Xie, Lizhi

    2015-10-01

    The majority of previous studies on hereditary neuropathy with liability to pressure palsies (HNPP) were focused on peripheral nerves, whereas cerebral alterations in HNPP have been less attended to. In this work, Diffusion tensor imaging (DTI) was used to detect the changes in WM, especially in the normal-appearing white matter (NAWM) in HNPP patients for its sensitivity in probing the microstructure of WM, the sensitive metric was searched for probing cerebral alterations and the regional distribution of cerebral abnormalities was identified. Twelve HNPP patients and 12 age- and gender-matched healthy controls underwent the conventional MRI, DTI scan, and electrophysiological examination. The conventional MRI images were first analyzed to identify abnormal intense regions and the NAWM regions. NAWM refers to the white matter regions that do not include the lesions on conventional MRI. The apparent diffusion coefficient and fractional anisotropy (FA) values of the NAWM were then measured and compared between patient and control groups. The sensitivity and specificity of 3 methods and the cerebral regional distribution of MR signal abnormalities were further analyzed. Hyperintense foci were observed on T2 weighted image and fluid attenuated inversion recovery images in 6 patients. Compared to the controls, FA values of the patients were significantly lower in bilateral frontal, orbitofrontal, and temporal NAWMs; whereas the electrophysiological examination results of patients and controls exhibited no statistically significant difference. The sensitivity of FA value was higher than that of electrophysiological examination and conventional MRI. The majority of abnormal signals on conventional MRI images and abnormal FA values were located in the frontal and temporal lobes. The results of our study show cerebral WM changes in HNPP patients. FA value in DTI has been shown to be sensitive to the cerebral microstructural changes in HNPP. The frontal lobe is the

  16. Hereditary neuropathy with liability to pressure palsies (HNPP) patients of Korean ancestry with chromosome 17p11.2-p12 deletion.

    PubMed

    Kim, Seung Min; Chung, Ki Wha; Choi, Byung Ok; Yoon, Eui Soo; Choi, Jung Young; Park, Kee Duk; Sunwoo, Il Nam

    2004-02-29

    Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant inherited disorder characterized by recurrent pressure palsies. Most HNPP patients have a 1.5 mb deletion in chromosome 17p11.2-p12. The present study aimed at evaluating the deletion of the 17p11.2-p12 region in Korean subjects with families exhibiting HNPP phenotype, and to determine the clinical, electrophysiological and morphological aspects specifically associated with this deletion in HNPP patients. By genotyping six microsatellite markers (D17S921, D17S955, D17S1358, D17S839, D17S122 and D17S261), HNPP with the deletion was observed in 79% (19 of 24) of HNPP families. Nerve conduction studies were performed in 35 HNPP patients from these 19 families. The observed HNPP deletion frequency in Koreans is consistent with findings in other populations. Disease onset occurred at a significantly earlier age in patients with recurrent pressure palsies than in those with a single attack (P < 0.01). Nerve conduction studies demonstrated diffuse mild to moderate slowing of nerve conduction velocities that were worse over the common entrapment sites, regardless of the clinical manifestations. A long duration of compound muscle action potentials without a conduction block or a temporal dispersion is a characteristic of this disease. A sural nerve biopsy with teasing was performed in four patients, and tomacula of the myelin sheath was found in 56.4%. Our findings appear to support the existence of a phenotype/genotype correlation in HNPP patients of Korean ancestry with the deletion, and suggest that HNPP patients with earlier symptom onset face an increased chance of having recurrent attacks.

  17. A case of rare recessive oculopharyngeal muscular dystrophy (OPMD) coexisting with hereditary neuropathy with liability to pressure palsies (HNPP).

    PubMed

    Marsh, Eleanor A; Robinson, David O

    2008-05-01

    Oculopharyngeal muscular dystrophy (OPMD) is typically inherited in an autosomal dominant fashion and is characterized by late onset proximal muscle weakness, ptosis and difficulty swallowing. It is caused by expansion mutations in the PABPN1 gene on chromosome 14q11. There is also a rare recessive form of the disease caused by homozygosity of a very small expansion mutation in the same gene. Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant disorder characterized by recurrent peripheral monofocal neuropathies. In this report a patient with both recessive OPMD and HNPP is described. The presence of two genetically unlinked neurological diagnoses in the same individual is a rare event and may have delayed the diagnoses.

  18. Molecular genetic analysis of the 17p11.2 region in patients with hereditary neuropathy with liability to pressure palsies (HNPP).

    PubMed

    Timmerman, V; Löfgren, A; Le Guern, E; Liang, P; De Jonghe, P; Martin, J J; Verhalle, D; Robberecht, W; Gouider, R; Brice, A; Van Broeckhoven, C

    1996-01-01

    Hereditary neuropathy with liability to pressure palsies (HNPP) is in most cases associated with an interstitial deletion of the same 1.5-Mb region at 17p11.2 that is duplicated in Charcot-Marie-Tooth type 1A (CMT1A) patients. Unequal crossing-over following misalignment at flanking repeat sequences (CMT1A-REP), either leads to tandem duplication in CMT1A patients or deletion in HNPP patients. With the use of polymorphic DNA markers located within the CMT1A/HNPP duplication/deletion region we detected the HNPP deletion in 16 unrelated HNPP patients, 11 of Belgian and 5 of French origin. In all cases, the 1.5-Mb size of the HNPP deletion was confirmed by EcoRI dosage analysis using a CMT1A-REP probe. In the 16 HNPP patients, the same 370/320-kb EagI deletion-junction fragments were detected with pulsed field gel electrophoresis (PFGE), while in CMT1A patients, a 150-kb EagI duplication-junction fragment was seen. Thus, PFGE analysis of EagI-digested DNA with a CMT1A-REP probe allows direct detection of the HNPP deletion or the CMT1A duplication for DNA diagnostic purposes.

  19. Laryngeal and phrenic nerve involvement in a patient with hereditary neuropathy with liability to pressure palsies (HNPP).

    PubMed

    Cortese, A; Piccolo, G; Lozza, A; Schreiber, A; Callegari, I; Moglia, A; Alfonsi, E; Pareyson, D

    2016-07-01

    Lower cranial and phrenic nerve involvement is exceptional in hereditary neuropathy with liability to pressure palsies (HNPP). Here we report the occurrence of reversible laryngeal and phrenic nerve involvement in a patient with HNPP. The patient recalled several episodes of reversible weakness and numbness of his feet and hands since the age of 30 years. His medical history was uneventful, apart from chronic obstructive pulmonary disease (COPD). At age 44, following severe weight loss, he presented with progressive dysphonia and hoarseness. EMG of cricoarytenoid and thyroarytenoid muscles and laryngeal fibroscopy confirmed vocal cord paralysis. These speech disturbances gradually regressed. Two years later, he reported rapidly worsening dyspnea. Electroneurography showed increased distal latency of the right phrenic nerve and diaphragm ultrasonography documented reduced right hemi-diaphragm excursion. Six months later and after optimization of CODP treatment, his respiratory function had improved and both phrenic nerve conduction and diaphragm excursion were completely restored. We hypothesize that chronic cough and nerve stretching in the context of CODP, together with severe weight loss, may have triggered the nerve paralysis in this patient. Our report highlights the need for optimal management of comorbidities such as CODP as well as careful control of weight in HNPP patients to avoid potentially harmful complications.

  20. [Delayed paresis of the femoral nerve after total hip arthroplasty associated with hereditary neuropathy with liability to pressure palsies (HNPP)].

    PubMed

    Schuh, A; Dürr, V; Weier, H; Zeiler, G; Winterholler, M

    2004-07-01

    Delayed lesions of the femoral or sciatic nerve are a rare complication after total hip arthroplasty. Several cases in association with cement edges, scar tissue, broken cerclages, deep hematoma, or reinforcement rings have been published. We report about a 62-year-old female who developed a pure motor paresis of the quadriceps muscle 2 weeks after total hip arthroplasty. After electrophysiological evaluation had revealed an isolated femoral nerve lesion, revision of the femoral nerve was performed. During operative revision no pathologic findings could be seen. One week later the patient developed paralysis of the left wrist and finger extensors after using crutches. Electrophysiological evaluation revealed several nerve conduction blocks in physiological entrapments and the diagnosis of hereditary neuropathy with liability to pressure palsies (HNPP) was established. Hereditary neuropathy with liability to pressure palsies (HNPP) is a rare disease with increased vulnerability of the peripheral nerve system with mostly reversible sensorimotor deficits. It should be taken into consideration in cases of atypical findings of compression syndromes of peripheral nerves or delayed neuropathy, e. g., after total hip arthroplasty.

  1. Molecular diagnosis of hereditary neuropathy with liability to pressure palsies (HNPP) by detection of 17p11.2 deletion in Italian patients.

    PubMed

    Mandich, P; James, R; Nassani, S; Defferrari, R; Bellone, E; Mancardi, G; Schenone, A; Abbruzzese, M; Rocchi, M; Ajmar, F

    1995-05-01

    Hereditary neuropathy with a liability to pressure palsies (HNPP) is an autosomal dominant disorder characterized by recurrent pressure palsies generally precipitated by minor trauma; weakness and paraesthesia usually improve and recover completely in a few months. By Southern blotting and fluorescent in situ hybridization analysis we confirm the presence of a 17p11.2 deletion in familial and in isolated cases of HNPP, suggesting that molecular analysis of the 17p11.2 region could also be a reliable and non-invasive method of diagnosis in sporadic cases, where a correct diagnosis usually requires a nerve biopsy. Although HNPP is a mild disease and not all patients seek medical attention, a presymptomatic diagnosis is useful for assessing the risk during genetic counselling, due to the inheritance of the mutation.

  2. Hereditary neuropathy with liability to pressure palsies in a Turkish patient (HNPP): a rare cause of entrapment neuropathies in young adults.

    PubMed

    Celik, Yahya; Kilinçer, Cumhur; Hamamcioğlu, M Kemal; Balci, Kemal; Birgili, Bariş; Cobanoğlu, Sebahattin; Utku, Ufuk

    2008-01-01

    Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant nerve disease usually caused by 1,5 Mb deletion on chromosome 17p11.2.2-p12, the region where the PMP-22 gene is located. The patients with HNPP usually have relapsing and remitting entrapment neuropathies due to compression. We present a 14-year-old male who had acute onset, right-sided ulnar nerve entrapment at the elbow. He had electrophysiological findings of bilateral ulnar nerve entrapments (more severe at the right side) at the elbow and bilateral median nerve entrapment at the wrist. Genetic tests of the patient demonstrated deletions in the 17p11.2 region. The patient underwent decompressive surgery for ulnar nerve entrapment at the elbow and completely recovered two months after the event. Although HNPP is extremely rare, it should be taken into consideration in young adults with entrapment neuropathies.

  3. Maternal Bilateral Radial Neuropathy During Childbirth in Hereditary Neuropathy With a Predisposition to Pressure Palsies (HNPP).

    PubMed

    Molloy, F M; Raynor, E M; Rutkove, S B

    2000-03-01

    A 30-year-old woman developed severe bilateral radial neuropathies during vaginal delivery of twins, likely secondary to positioning and muscular effort. Subsequent evaluation led to the diagnosis of hereditary neuropathy with predisposition to pressure palsies. Avoidance of prolonged muscular effort in the arms in conjunction with medial intervention to shorten the second stage of labor may help prevent debilitating radial nerve injury in women with this disorder.

  4. A de novo case of hereditary neuropathy with liability to pressure palsies (HNPP) of maternal origin: a new mechanism for deletion in 17p11.2?

    PubMed

    LeGuern, E; Gouider, R; Ravisé, N; Lopes, J; Tardieu, S; Gugenheim, M; Abbas, N; Bouche, P; Agid, Y; Brice, A

    1996-01-01

    Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant neuropathy, most often associated with a deletion of the 17p11.2 region, which is duplicated in 70% of patients with Charcot-Marie-Tooth type 1 (CMT1A). Most de novo CMT1A and HNPP cases have been of paternal origin. A rare case of de novo HNPP of maternal origin was analysed to determine the underlying mechanism. Affected individuals in the family carried a deletion corresponding to the CMT1A/HNPP monomer unit associated with a rearrangement of the CMT1A-REP sequences. Segregation analysis of 17p11-p12 markers in the family indicated that the deletion was not generated by unequal crossing over between homologous 17 chromosomes, as in de novo cases from paternal origin, but rather by an intrachromosomal rearrangement. Two distinct mechanisms can therefore lead to the same 17p11.2 deletion. This result suggests that intrachromosomal rearrangement may be specific to maternal transmissions.

  5. Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP): reliable detection of the CMT1A duplication and HNPP deletion using 8 microsatellite markers in 2 multiplex PCRs.

    PubMed

    Seeman, P; Mazanec, R; Zidar, J; Hrusáková, S; Ctvrtecková, M; Rautenstrauss, B

    2000-10-01

    Charcot-Marie-Tooth disease (CMT) and hereditary neuropathy with liability to pressure palsies (HNPP) are the most frequent inherited disorders of the peripheral nervous system. They are clinically and genetically heterogeneous. A submicroscopic tandem duplication of 1. 5 Mb in chromosome 17p11.2-12 comprising the PMP22 gene is found in 70.7% of autosomal dominant Charcot-Marie-Tooth type 1 (CMT1) patients. A reciprocal deletion is found in 87.6% of HNPP patients. The size of the typical CMT1A duplication is too small for classical cytogenetics and the whole region including the CMT1A-REP elements is sometimes too complex for a single DNA analysis method. We present results of a multiplex PCR of 8 microsatellite markers with multicolour fluorescence primer labelling followed by fragment analysis on an ABI 310 Prism analyzer to simplify the diagnostic procedure. Results for 24 patients can be obtained within 24 h. This method was applied on 92 DNA samples of unrelated patients carrying a typical CMT1A duplication previously confirmed by two colour fluorescence in situ hybridization (FISH, probe c132G8) and EcoRI/SacI Southern blotting (probe pLR7.8). Three alleles of three different sizes were clearly detected at least once in 88 of them (95.6%). Subsequently this analysis was applied on 312 Czech patients and revealed a CMT1A/HNPP rearrangement in 109 out of them.

  6. Microsatellite mapping of the deletion in patients with hereditary neuropathy with liability to pressure palsies (HNPP): new molecular tools for the study of the region 17p12 --> p11 and for diagnosis.

    PubMed

    LeGuern, E; Ravise, N; Gouider, R; Gugenheim, M; Lopes, J; Bouche, P; Agid, Y; Brice, A

    1996-01-01

    Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant peripheral neuropathy characterized by recurrent episodes of nerve palsies. We have analyzed 11 microsatellite markers from chromosome 17p12 --> p11 in nine French families with HNPP. The three microsatellites D17S839 (afm200yb12), D17S955 (afm317ygl), and D17S921 (afm191xh12) were localized in the deleted region. In allele segregation analyses, the microsatellite D17S793 (afm165zd4) detected two chromosome 17-linked loci, one of which was deleted in HNPP patients. Using these STR markers, we found that the deletion coincided with the CMT1A/HNPP monomer unit in eight of the nine families. In the remaining pedigree, the deletion lay between the centromeric microsatellite D17S805 (afm234tal) and the telomeric marker D17S922 (afm197xh6), which flank the CMT1A monomer unit. Comparison of these data with the available genetic and physical maps of 17p12 --> p11 shows that this region, which is frequently subject to rearrangement-inducing diseases, such as Smith-Magenis syndrome, Charcot-Marie-Tooth type 1A, and HNPP, presents recombination hot spots. Finally, this study demonstrates the usefulness of the D17S122 (RM11GT) and D17S921 (afm191xh12) microsatellites as tools for the molecular diagnosis of HNPP.

  7. Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) associated to hereditary neuropathy with liability to pressure palsies (HNPP) and revealed after influenza AH1N1 vaccination.

    PubMed

    Remiche, Gauthier; Abramowicz, Marc; Mavroudakis, Nicolas

    2013-12-01

    Neurological complications of AH1N1 vaccination such as Guillain-Barré syndrome were described in the previous years. Several reports suggest that hereditary neuropathies may be a predisposing factor for immune-mediated neuropathies. We report the case of a 54-year-old female who developed chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) 5 weeks after AH1N1 vaccination. She had no previous neurological history, but neurophysiological features led us to suspect an underlying hereditary neuropathy. PMP22 gene analysis showed a typical deletion, confirming the diagnosis of hereditary neuropathy with liability to pressure palsies (HNPP). We observed a significant clinical and neurophysiological improvement of the neuropathy after intravenous immunoglobulin treatment. This is, to our knowledge, the first reported case of CIDP potentially triggered by AH1N1 vaccination. This and previous observations suggest that genetic-determined neuropathies could predispose to the occurrence of immune-mediated neuropathies. One must recall the possibility of a superimposed hereditary neuropathy like HNPP in patients with a clinical presentation of CIDP, especially when positive family history or unexpected neurophysiological features are present.

  8. Hereditary neuropathy with liability to pressure palsies (HNPP) in a toddler presenting with toe-walking, pain and stiffness.

    PubMed

    Lönnqvist, Tuula; Pihko, Helena

    2003-12-01

    The typical clinical presentation of hereditary neuropathy with liability to pressure palsies is an adult-onset recurrent, painless monoparesis. Electrophysiological abnormalities--decreased nerve conduction velocities and delayed distal latencies--can be detected even in asymptomatic patients. We describe a toddler, who presented with asymmetric toe walking, painful cramps and stiffness in the legs. He had calf hypertrophy, brisk tendon reflexes and bilateral Babinski signs and the electrophysiological examination was normal. The unlikely diagnosis of hereditary neuropathy with liability to pressure palsies was reached 5 years later, when the boy started to complain of episodic numbness and weakness in the upper extremities. His father, paternal aunt and grandmother had similar symptoms, but they had never been investigated. The typical 1.5 Mb deletion on chromosome 17p11.2-12 was found in our patient and his affected relatives.

  9. Fibular nerve palsy after hip replacement: Not only surgeon responsibility. Hereditary neuropathy with liability to pressure palsies (HNPP) a rare cause of nerve liability.

    PubMed

    Logroscino, G; Del Tedesco, F; Cambise, C; Coraci, D; Donati, F; Santilli, V; Padua, L

    2016-06-01

    Mononeuropathy after surgery may occur and hereditary neuropathy with liability to pressure palsies is a possible pathological condition related to paresis after hip surgery. We present a case of 66-year-old man presenting severe weakness at inferior limb muscles after hip prosthesis revision. Clinic and electrophysiology showed severe right fibular nerve damage and ultrasound found a marked enlargement of the same nerve, associated with focal enlargements in other nerves. A diagnosis of hereditary neuropathy with liability to pressure palsies was suspected and confirmed by genetic test. The patient gradually recovered returning to a normal daily active life. Ultrasound was crucial for diagnosis. The suspicion and diagnosis of latent neuropathy, which can occur after surgical intervention, may lead to a better understand of the risks of the surgery, specific for the patient, and avoid the wrong attribution to surgical malpractice.

  10. Hereditary neuropathy with liability to pressure palsies occurring during military training.

    PubMed

    Delacour, H; Bompaire, F; Biale, L; Sallansonnet-Froment, M; Ceppa, F; Burnat, P

    2012-03-01

    Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal-dominant peripheral neuropathy characterized by recurrent isolated nerve palsies, which are precipitated by trivial compression and trauma. Although HNPP has been well-described in literature, it often goes unrecognized. We report a case of HNPP occurring during military training to promote recognition and proper management of this entity.

  11. [Hereditary neuropathy with liability to pressure palsies (HNPP) in hand surgery: reminds and warn against a usually unrecognised disease].

    PubMed

    Lazar, C-C; Auquit-Auckbur, I; Milliez, P-Y

    2007-12-01

    Tomacula is a rare hereditary disease due to a deletion on chromosome 17. Clinical presentation varies but patients usually complain of recurrent paraesthesiaes and palsies related to compression or trauma of a peripheral nerve. Diagnosis is based on electrophysiological studies, nerve biopsies and genetic tests. Implications for the patient and family members are a genetic counselling and some simple preventive measures. Although there is no curative treatment for this neuropathy, surgery can be useful for decompression of nerves and neurolysis. However, the surgical act increases the risk of nerve damage. Knowing about the diagnosis can help the patient and the surgical team avoid causing lesions.

  12. Screening of the 17p11.2--p12 region in a large cohort of patients with Charcot-Marie-Tooth (CMT) disease or hereditary neuropathy with liability to pressure palsies (HNPP).

    PubMed

    Kabzinska, D; Pierscinska, J; Kochanski, A

    2009-01-01

    Within the last decade, numerous methods have been applied to detect the most common mutation in patients affected with Charcot-Marie-Tooth (CMT) disease, i.e. submicroscopic duplication in the 17p11.2--p12 region. In 1993, another neuropathy - known as hereditary neuropathy with liability to pressure palsies (HNPP) - has been shown to be caused by a 17p11.2--p12 deletion. Historically, Southern blot analysis was the first approach to identify CMT1A duplication or HNPP deletion. This time- and labor-consuming method requires prior selection of DNA samples. In fact, only CMT patients affected with the demyelinating form of CMT1 have been screened for CMT1A duplication. After the 17p11.2--p12 duplication was identified in the CMT1 families, subsequent studies revealed additional axonal features in the patients harboring the 17p11.2--p12 duplication. Thus it seems reasonable to test all patients affected with CMT for the presence of the 17p11.2--p12 duplication. To evaluate the utility of real-time polymerase chain reaction (Q-PCR) and restriction fragment length polymorphism PCR (RFLP-PCR), we screened a large group of 179 families with the diagnosis of CMT/HNPP for the presence of the 17p11.2--p12 duplication/deletion. Due to a high frequency of CMT1A duplication in familial cases of CMT, we propose (in contrast to the previous studies) to perform Q-PCR analysis in all patients diagnosed with CMT.

  13. Is carpal tunnel decompression warranted for HNPP?

    PubMed

    Earle, Nicholas; Zochodne, Douglas W

    2013-12-01

    The role of carpal tunnel decompression surgery for patients that have hereditary neuropathy with liability to pressure palsy (HNPP) is currently unknown. Since recovery from carpal tunnel compression is often associated with remyelination or nodal reconstruction rather than axonal regeneration, it is uncertain whether the PMP22 deletion associated with HNPP interrupts myelin or nodal reconstitution. We describe two patients with genetically confirmed HNPP and symptomatic carpal tunnel syndrome that had clinical and electrophysiological improvement after surgical decompression. The findings indicate a capacity for conduction repair in HNPP. They also suggest a need for further investigation and discussion around whether to offer carpal tunnel decompression to symptomatic HNPP patients.

  14. Hereditary Neuropathy With Liability to Pressure Palsies: Diverse Phenotypes in Childhood.

    PubMed

    Harada, Yohei; Puwanant, Araya; Herrmann, David N

    2016-12-01

    Hereditary neuropathy with liability to pressure palsies (HNPP) is a rare autosomal-dominant disorder that most commonly produces recurrent painless focal sensory and motor neuropathies often preceded by minor, mechanical stress, or minor trauma. Herein, we report 2 pediatric cases of HNPP with atypical presentations; isolated muscle cramping and toe walking. Electrophysiologic testing disclosed multifocal sensorimotor polyneuropathy with slowing of sensory conduction velocities in both cases, which prompted PMP 22 gene deletion testing. Multifocal sensorimotor electrophysiologic abnormalities, with slowing of sensory conduction velocities should raise consideration of HNPP in childhood. These case reports emphasize that the diagnosis of HNPP in children requires a high index of suspicion.

  15. Sonographic evaluation of the peripheral nerves in hereditary neuropathy with liability to pressure palsies: a case report.

    PubMed

    Kim, Se Hwa; Yang, Seung Nam; Yoon, Joon Shik; Park, Bum Jun

    2014-02-01

    Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominantly inherited disorder that affects peripheral nerves by repeated focal pressure. HNPP can be diagnosed by clinical findings, electrodiagnostic studies, histopathological features, and genetic analysis. Ultrasonography is increasingly used for the diagnosis of neuromuscular diseases; however, sonographic features of HNPP have not been clearly defined. We report the sonographic findings and comparative electrodiagnostic data in a 73-year-old woman with HNPP, confirmed by genetic analysis. The cross-sectional areas of peripheral nerves were enlarged at typical nerve entrapment sites, but enlargement at non-entrapment sites was uncommon. These sonographic features may be helpful for diagnosis of HNPP when electrodiagnostic studies are suspicious of HNPP and/or gene study is not compatible.

  16. Sonographic Evaluation of the Peripheral Nerves in Hereditary Neuropathy With Liability to Pressure Palsies: A Case Report

    PubMed Central

    Kim, Se Hwa; Yoon, Joon Shik; Park, Bum Jun

    2014-01-01

    Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominantly inherited disorder that affects peripheral nerves by repeated focal pressure. HNPP can be diagnosed by clinical findings, electrodiagnostic studies, histopathological features, and genetic analysis. Ultrasonography is increasingly used for the diagnosis of neuromuscular diseases; however, sonographic features of HNPP have not been clearly defined. We report the sonographic findings and comparative electrodiagnostic data in a 73-year-old woman with HNPP, confirmed by genetic analysis. The cross-sectional areas of peripheral nerves were enlarged at typical nerve entrapment sites, but enlargement at non-entrapment sites was uncommon. These sonographic features may be helpful for diagnosis of HNPP when electrodiagnostic studies are suspicious of HNPP and/or gene study is not compatible. PMID:24639934

  17. A newly identified Thr99fsX110 mutation in the PMP22 gene associated with an atypical phenotype of the hereditary neuropathy with liability to pressure palsies.

    PubMed

    Moszyńska, Izabela; Kabzińska, Dagmara; Sinkiewicz-Darol, Elena; Kochański, Andrzej

    2009-01-01

    Hereditary neuropathy with liability to pressure palsies (HNPP) is manifested by a spectrum of phenotypes, from the classical HNPP course associated with intermittent nerve palsies to a neuropathy resembling Charcot-Marie-Tooth type 1 (CMT1) disease. The majority of HNPP cases are associated with submicroscopical deletions in the 17p11.2-p12 region containing the PMP22 gene, while PMP22 point mutations are rare, representing about 15% of HNPP cases. In this study, we present a patient manifesting with atypical HNPP phenotype associated with a new Thr99fsX110 mutation in the PMP22 gene. We conclude that all patients who fulfill the electrophysiological criteria of HNPP, even if they lack the typical HNPP phenotype, should be tested for point mutations in the PMP22 gene.

  18. A Family Harboring CMT1A Duplication and HNPP Deletion.

    PubMed

    Lee, Jung Hwa; Kang, Hee Jin; Song, Hyunseok; Hwang, Su Jin; Cho, Sun-Young; Kim, Sang-Beom; Kim, Joonki; Chung, Ki Wha; Choi, Byung-Ok

    2007-06-01

    Charcot-Marie-Tooth disease type 1A (CMT1A) is associated with duplication of chromosome 17p11.2-p12, whereas hereditary neuropathy with liability to pressure palsies (HNPP), which is an autosomal dominant neuropathy showing characteristics of recurrent pressure palsies, is associated with 17p11.2-p12 deletion. An altered gene dosage of PMP22 is believed to the main cause underlying the CMT1A and HNPP phenotypes. Although CMT1A and HNPP are associated with the same locus, there has been no report of these two mutations within a single family. We report a rare family harboring CMT1A duplication and HNPP deletion.

  19. An abnormal mRNA produced by a novel PMP22 splice site mutation associated with HNPP.

    PubMed

    Bellone, E; Balestra, P; Ribizzi, G; Schenone, A; Zocchi, G; Di Maria, E; Ajmar, F; Mandich, P

    2006-04-01

    Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant, demyelinating neuropathy. Point mutations in the PMP22 gene are a rare cause of HNPP. A novel PMP22 splice site mutation (c.179+1 G-->C) is reported in an HNPP family. By reverse transcriptase-polymerase chain reaction experiments, this mutation was shown to cause the synthesis of an abnormal mRNA in which a premature stop codon probably produces a truncated non-functional protein.

  20. Hereditary neuropathy with liability to pressure palsy: two cases of difficult diagnosis.

    PubMed

    Beydoun, Said R; Cho, Justin

    2013-09-01

    Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited autosomal dominant disorder that causes a polyneuropathy with predisposition for involvement at sites of compression and is often underdiagnosed or misdiagnosed due to its heterogeneity in clinical and electrophysiological presentation. We report 2 cases of HNPP, which were initially diagnosed and treated as either an acquired demyelinating disorder or alternative inherited demyelinating disorder. Thorough evaluation of repeat electrodiagnostic studies and genetic testing confirmed the diagnosis of HNPP in both cases. One case showed the classic peripheral myelin protein 22 (PMP22) deletion and the other case showed a previously reported single base pair deletion at Leu145 causing a frameshift mutation at the PMP22 gene. These cases underscore the difficulty of diagnosing HNPP, because of the variations in clinical and electrophysiological findings and reinforce the importance of a combination high index of clinical suspicion, electrodiagnostic testing, and genetic testing to make the diagnosis.

  1. Progress in molecular diagnosis of Charcot-Marie-Tooth-disease type 1 (CMT 1, HMSN I) and hereditary neuropathy with liability to pressure palsies (HNPP) by fluorescence in situ hybridization (FISH)-detection of a potential genetic mosaicism

    SciTech Connect

    Bathke, K.; Liehr. T.; Ekici, A.

    1994-09-01

    We tested 20 CMT 1 patients characterized according to the criteria of the European CMT consortium by Southern hybridization of MspI restricted genomic DNA with probes pVAW409R1, pVAW412Hec and pEW401HE. In 11 of the 20 CMT 1 cases (55%), we observed a duplication in 17q11.2; one patient had a dinucleotide insertion in exon 6 of the PO-gene (5%). One HNPP case had a typical 17p11.2 deletion. Analysis of CA-repeats was performed with primers RM11GT and Mfd41; SSCP-analysis of the PO, PMP22 and Cx32-genes is in progress. FISH was carried out with probe pVAW409R1. 125 interphase nuclei were analyzed for each proband by counting the signals per nucleus. Normal cells show a characteristic distribution of signals: 1 signal in 5.9% of nuclei, 2 in 86.3% and 3 in 7.8%. A duplication is indicated by a shift to 3 signals in more than approximately 60% and 2 in less than 25% of the nuclei. In contrast, the 17p11.2 deletion of the HNPP patient shifts to 82.4% of nuclei with a single hybridization signal versus 14.4% with 2 signals. We detected one case with significantly abnormal distribution of interphase nuclei hybridization signals compared to cultures of normal cells and to those with 17p11.2 duplication or deletion: 3.2% nuclei revealed 1 signal, 48.0% two signals and 48.8% 3 signals, indicating a pathogenic but moderate dosis increase compared to the throughout duplicated cases. FISH with probe pVAW409R1 is a versatile tool to detect the HNPP deletion both in interphase nuclei and in metaphase chromosomes. In CMT 1 disease interphase nuclei are required for FISH analysis due to the small duplication of 1.5 Mbp. In contrast to Southern techniques, FISH is able to detect genetic mosaicism.

  2. Inherited focal, episodic neuropathies: hereditary neuropathy with liability to pressure palsies and hereditary neuralgic amyotrophy.

    PubMed

    Chance, Phillip F

    2006-01-01

    Hereditary neuropathy with liability to pressure palsies (HNPP; also called tomaculous neuropathy) is an autosomal-dominant disorder that produces a painless episodic, recurrent, focal demyelinating neuropathy. HNPP generally develops during adolescence, and may cause attacks of numbness, muscular weakness, and atrophy. Peroneal palsies, carpal tunnel syndrome, and other entrapment neuropathies may be frequent manifestations of HNPP. Motor and sensory nerve conduction velocities may be reduced in clinically affected patients, as well as in asymptomatic gene carriers. The histopathological changes observed in peripheral nerves of HNPP patients include segmental demyelination and tomaculous or "sausage-like" formations. Mild overlap of clinical features with Charcot-Marie-Tooth (CMT) disease type 1 (CMT1) may lead patients with HNPP to be misdiagnosed as having CMT1. HNPP and CMT1 are both demyelinating neuropathies, however, their clinical, pathological, and electrophysiological features are quite distinct. HNPP is most frequently associated with a 1.4-Mb pair deletion on chromosome 17p12. A duplication of the identical region leads to CMT1A. Both HNPP and CMT1A result from a dosage effect of the PMP22 gene, which is contained within the deleted/duplicated region. This is reflected in reduced mRNA and protein levels in sural nerve biopsy samples from HNPP patients. Treatment for HNPP consists of preventative and symptom-easing measures. Hereditary neuralgic amyotrophy (HNA; also called familial brachial plexus neuropathy) is an autosomal-dominant disorder causing episodes of paralysis and muscle weakness initiated by severe pain. Individuals with HNA may suffer repeated episodes of intense pain, paralysis, and sensory disturbances in an affected limb. The onset of HNA is at birth or later in childhood with prognosis for recovery usually favorable; however, persons with HNA may have permanent residual neurological dysfunction following attack(s). Episodes are often

  3. Clinical, electrophysiological and magnetic resonance findings in a family with hereditary neuropathy with liability to pressure palsies caused by a novel PMP22 mutation.

    PubMed

    Yurrebaso, Izaskun; Casado, Oscar L; Barcena, Joseba; Perez de Nanclares, Guiomar; Aguirre, Urko

    2014-01-01

    Hereditary neuropathy with liability to pressure palsies (HNPP) is a disorder mainly caused by a 1.5-Mb deletion at 17p11.2-12 (and in some rare cases by point mutations) and clinically associated with recurrent painless palsies. Here, we performed electrophysiological (motor, sensory and terminal latency index), MRI and genetic studies in a family referred for ulnar neuropathy with pain. Surprisingly, we found typical neurophysiological features of HNPP (prolongation of distal motor latencies and diffuse SNCV slowing with significant slowing of motor nerve conduction velocities). Besides, the proband presented conduction block in left ulnar, left median and both peroneal nerves. MRI findings were consistent with an underlying neuropathy. Molecular studies identified a novel frameshift mutation in PMP22 confirming the diagnosis of HNPP. Our data suggest that neurophysiological studies are essential to characterize underdiagnosed HNPP patients referred for peripheral neuropathy. Our experience shows that MRI could be a complementary tool for the diagnosis of these patients.

  4. [Hereditary neuropathy with liability to pressure palsies in childhood: Report of three cases].

    PubMed

    Bar, C; Villéga, F; Espil, C; Husson, M; Pedespan, J-M; Rouanet, M-F

    2017-03-01

    Hereditary neuropathy with liability to pressure palsy (HNPP) is an autosomal dominant neuropathy. It is characterized by recurrent sensory and motor nerve palsies, usually precipitated by minor trauma or compression. Even though rare in childhood, this disorder is probably underdiagnosed given its wide spectrum of clinical symptoms. We review three separate cases of HNPP diagnosed in children with various phenotypes: fluctuating and distal paresthesias disrupting learning at school, cramps related to intensive piano practice, and discrete muscle weakness with no functional complaint. Family history should be carefully reviewed to identify potential undiagnosed HNPP cases, as in our three reports. Electrophysiological study is essential for the diagnosis, with a double advantage: to confirm the presence of focal abnormalities in clinically symptomatic areas and to guide molecular biology by revealing an underlying demyelinating polyneuropathy. The diagnosis of HNPP is confirmed by genetic testing, which in 90% of cases shows a 1.5-Mb deletion of chromosome 17p11.2 including the PMP22 gene. Patients are expected to make a full recovery after each relapse. However, it is very important for both the patient and his or her family to establish a diagnosis in order to prevent recurrent palsy brought on by situations involving prolonged immobilizations leading to nerve compression.

  5. Hereditary neuropathy with liability to pressure palsies presenting with sciatic neuropathy.

    PubMed

    Topakian, Raffi; Wimmer, Sibylle; Pischinger, Barbara; Pichler, Robert

    2014-10-17

    Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal-dominant disorder associated with recurrent mononeuropathies following compression or trivial trauma. Reports on sciatic neuropathy as the presenting manifestation of HNPP are very scarce. We report on a 21-year-old previously healthy man who was admitted with sensorimotor deficits in his left leg. He had no history of preceding transient episodes of weakness or sensory loss. Clinical and electrophysiological examinations were consistent with sciatic neuropathy. Cerebrospinal fluid investigation and MRI of the nerve roots, plexus, and sciatic nerve did not indicate the underlying aetiology. When extended electrophysiological tests revealed multiple subclinical compression neuropathies in the upper limbs, HNPP was contemplated and eventually confirmed by genetic testing.

  6. Electrophysiological comparison between males and females in HNPP.

    PubMed

    Manganelli, Fiore; Pisciotta, Chiara; Dubbioso, Raffaele; Maruotti, Valerio; Iodice, Rosa; Notturno, Francesca; Ruggiero, Lucia; Vitale, Carmine; Nolano, Maria; Uncini, Antonino; Santoro, Lucio

    2013-08-01

    Some evidences highlighted a higher clinical expression of hereditary neuropathy with liability to pressure palsy (HNPP) in males, and a higher load of traumatic nerve injuries due to different occupational activity has been invoked to explain this observation. It is unknown whether this increased clinical impairment corresponds to a greater electrophysiological involvement. Thus, we compared clinical and electrophysiological features between men and women in a large cohort of HNPP patients. Nerve palsies and electrophysiological abnormalities were more frequent in men, and electrophysiological findings which differentiated males from females did not show any age-related worsening. In conclusion, our findings showed a higher clinical and electrophysiological involvement in males which does not seem related to different cumulative nerve damage over time. We believe that the higher disease expression may increase the chance to detect the disease in males and, thereby, to underestimate the HNPP diagnosis in females.

  7. Hereditary Neuropathy with Liability to Pressure Palsies Masked by Previous Gunshots and Tuberculosis

    PubMed Central

    Gencik, Martin; Finsterer, Josef

    2015-01-01

    Objectives. Although hereditary neuropathy with liability to pressure palsies (HNPP) presents with a distinct phenotype on history, clinical exam, and nerve conduction studies, it may be masked if diagnostic work-up suggests other causes. Case Report. In a 37-year-old male with pseudoradicular lumbar pain, neurological exam revealed sore neck muscles, peripheral facial nerve palsy, right anacusis and left hypoacusis, hemihypesthesia of the right face, mild distal quadriparesis, diffuse wasting, and generally reduced tendon reflexes. He had a history of skull fracture due to a gunshot behind the right ear and tuberculosis for which he had received adequate treatment for 3 years; MRI revealed a disc prolapse at C6/7 and Th11/12. Nerve conduction studies were indicative of demyelinating polyneuropathy with conduction blocks. Despite elevated antinuclear antibodies and elevated CSF-protein, HNPP was diagnosed genetically after having excluded vasculitis, CIDP, radiculopathy, and the side effects of antituberculous treatment. Conclusions. HNPP may manifest with mild, painless, distal quadriparesis. The diagnosis of HNPP may be blurred by a history of tuberculosis, tuberculostatic treatment, hepatitis, and the presence of elevated CSF-protein. PMID:26640726

  8. Hereditary Neuropathy With Liability to Pressure Palsies: A Single-Center Experience in Southern Brazil

    PubMed Central

    Lorenzoni, Paulo José; Kay, Cláudia Suemi Kamoi; Cavalet, Cristiane; Arndt, Raquel C.; Werneck, Lineu Cesar; Scola, Rosana Herminia

    2016-01-01

    The spectrum of clinical and electrophysiological features in hereditary neuropathy with liability to pressure palsies (HNPP) is broad. We analyze a series of Brazilian patients with HNPP. Correlations between clinical manifestations, laboratory features, electrophysiological analyze, histological and molecular findings were done. In five cases, more than one episode occurred before diagnosis. Median nerve in the carpal tunnel at the wrist, ulnar nerve in its groove at the elbow, fibular nerve in the head of the fibula at the knee, radial nerve in its groove of the humerus and suprascapular nerve in its notch at the supraspinous fossa were found as focal neuropathies. One patient presented with persistent writer’s cramp after ulnar nerve palsy. Nerve conduction studies showed focal neuropathy in all patients and concomitant generalized symmetrical neuropathy in eight patients. Molecular analysis of the PMP22 gene detected deletion of the 1.5-Mb fragment in all patients. PMID:27761228

  9. A new single-nucleotide deletion of PMP22 in an HNPP family without recurrent palsies.

    PubMed

    Luigetti, Marco; Conte, Amelia; Madia, Francesca; Mereu, Maria Lucia; Zollino, Marcella; Marangi, Giuseppe; Pomponi, Maria Grazia; Liberatore, Giuseppe; Tonali, Pietro Altilio; Sabatelli, Mario

    2008-08-01

    In this study we describe four patients from the same kindred who were affected by an autosomal-dominantly inherited peripheral neuropathy. They presented an unusual combination of clinical, electrophysiological, and pathological findings in association with a new mutation of the PMP22 gene. Clinically, three patients had carpal tunnel syndrome symptoms and one patient had late-onset peroneal atrophy. Motor and sensory nerve conduction velocities were reduced without focal slowing at entrapment sites. Nerve biopsy disclosed diffuse hypomyelination with focal thickening of the myelin sheath in some fibers. Sequence analysis of the PMP22 gene showed a single-nucleotide deletion (227delG) in the affected patients. This mutation, which has not been reported previously, leads to an open reading frame shift and probably to a truncated and unstable PMP22 protein. We conclude that this novel 227delG mutation of PMP22 gives a mild form of hereditary neuropathy with liability to pressure palsy with atypical clinical and electrophysiological findings.

  10. Hereditary neuropathy with liability to pressure palsies in childhood: Case series and literature update.

    PubMed

    Chrestian, Nicolas; McMillan, Hugh; Poulin, Chantal; Campbell, Craig; Vajsar, Jiri

    2015-09-01

    Hereditary Neuropathy with Liability to Pressure Palsy (HNPP) is a rare condition in childhood with a diverse range of clinical presentations. We analyzed the clinical presentation and electrophysiological data of 12 children with a confirmed PMP22 gene deletion and reviewed the published reports of HNPP in children and compared our data with the reports from the literature review. Peroneal palsy was the most common presentation (42%) followed by brachial plexus palsy in 25% of our cases. Nerve conduction studies were always suggestive of the diagnosis demonstrating 3 major patterns: multifocal demyelination at the area of entrapment, generalized sensory-motor polyneuropathy and a combination of the two first patterns in a vast majority (60%). Surprisingly, there was bilateral or unilateral electrophysiological entrapment of the median nerve at the carpal tunnel in all our patients. The clinical presentation of HNPP in childhood is heterogeneous and electrophysiological findings are helpful in establishing the diagnosis. Any unexplained mononeuropathy or multifocal neuropathy should lead to PMP22 gene testing to look for the deletion. Early diagnosis is important in order to facilitate appropriate genetic counseling and also for the appropriate care for these patients.

  11. Compression of Root Level in a Patient with Hereditary Neuropathy with Liability to Pressure Palsy Diagnosed by Magnetic Resonance Imaging.

    PubMed

    Park, Donghwi; Ryu, Ju Seok; Kim, Ki-Jeong

    2016-09-01

    Hereditary neuropathy with liability to pressure palsies (HNPP) is characterized by acute, painless, and recurrent mononeuropathies that are secondary to compression or minor trauma. This case is the first to report an intraspinal compression of the radicular nerve by schwannoma in a patient with HNPP. A 66-year-old woman developed left foot drop and paresthesia of the lateral aspects of left distal lower leg. An electromyography showed left L5 radiculopathy and severe peripheral polyneuropathy. A lumbosacral magnetic resonance imaging revealed a radicular nerve in the intradural and extramedullary space being compressed by schwannoma. She previously had symptoms of foot drop several years ago, and HNPP was confirmed by peripheral myelin protein 22 deletion. She was surgically treated for L5 radiculopathy, which might have been caused by a traction of the nerve root by schwannoma at the intradural and extramedullary space. After surgical treatment, her symptoms of foot drop had improved from zero grade to IV+ grade within 4 weeks. The occurrence of HNPP and schwannoma in the same patient may be coincidental, but it is tempting to speculate that they share a common genetic basis. Therefore, for patients with HNPP, it is important to consider not only an electrophysiologic study but also a magnetic resonance imaging to locate the exact pathologic site.

  12. A rare genetic disorder in the differential diagnosis of the entrapment neuropathies: hereditary neuropathy with liability to pressure palsies.

    PubMed

    Koc, Filiz; Güzel, Rengin; Benlidayi, Ilke Coskun; Yerdelen, Deniz; Güzel, Irfan; Sarica, Yakup

    2006-04-01

    Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal-dominant, slowly progressive neuromuscular disorder, which is characterized by recurrent acute peripheral nerve palsies. Electrophysiological studies show decreased motor and sensory conduction velocities in both clinically affected and unaffected nerves. Focal thickening of myelin sheath with sausage-like formation, also called tomacula, is seen in nerve biopsies. In genetic studies, 1.5-Mb deletion on chromosome 17p11.2 is detected in approximately 85% of HNPP cases and point mutations are determined in some cases. We describe a 26-year-old man who had a 6-month history of paresthesia in the little fingers of his hands. He was diagnosed with HNPP by neurologic examination, and electrophysiological and histopathologic studies. Studies in his mother and one brother also showed entrapment neuropathy. However, no deletions or point mutations were determined in this family. Other genetic defects apart from the known ones might be present in this disease. The most frequent entrapment syndrome, carpal tunnel syndrome, is also seen in this disease, so physicians dealing with musculoskeletal problems should be alert about this subject. Awareness of HNPP may help avoid unnecessary operative interventions.

  13. New mutations in CMT 1 and HNPP

    SciTech Connect

    Vandenberghe, A.; Boucherat, M.; Bonnebouche, C.

    1994-09-01

    The majority of mutations in CMT 1 (Charcot-Marie-Tooth disease type 1) are due to a duplication of a 1.5 Mb fragment from chromosome 17 containing the PMP22 myelin gene. In addition, micromutations are found in the genes for PMP22 and myelin Po. We collected data from over one hundred families with a duplication in 17p11.2. In about 10% of these families, a de novo mutation was observed. All parents were clinically examined as normal and correct paternity was confirmed. Some families were informative for polymorphic probes located in the duplicated region, and we could deduce a majority of new mutations to be from paternal origin. HNPP (hereditary neuropathy with liability to pressure palsies) is believed to be the reciprocal product of an unequal crossing over underlying the CMT 1 mutation and is due to a deletion of the 1.5 Mb fragment. One new HNPP mutation was found among 7 deleted HNPP families. This mutation is of paternal origin. Clinically assigned CMT 1 patients without a duplication are screened for micromutations applying the SSCP technique. In one family, a de novo mutation was found in the gene for Po.

  14. Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent.

    PubMed Central

    Timmerman, V; Rautenstrauss, B; Reiter, L T; Koeuth, T; Löfgren, A; Liehr, T; Nelis, E; Bathke, K D; De Jonghe, P; Grehl, H; Martin, J J; Lupski, J R; Van Broeckhoven, C

    1997-01-01

    Charcot-Marie-Tooth type 1 disease (CMT1) and hereditary neuropathy with liability to pressure palsies (HNPP) are common inherited disorders of the peripheral nervous system. The majority of CMT1 patients have a 1.5Mb tandem duplication (CMT1A) in chromosome 17p11.2 while most HNPP patients have a deletion of the same 1.5 Mb region. The CMT1A duplication and HNPP deletion are the reciprocal products of an unequal crossing over event between misaligned flanking CMT1A-REP elements. We analysed 162 unrelated CMT1A duplication patients and HNPP deletion patients from 11 different countries for the presence of a recombination hotspot in the CMT1A-REP sequences. A hotspot for unequal crossing over between the misaligned flanking CMT1A-REP elements was observed through the detection of novel junction fragments in 76.9% of 130 unrelated CMT1A patients and in 71.9% of 32 unrelated HNPP patients. This recombination hotspot was also detected in eight out of 10 de novo CMT1A duplication and in two de novo HNPP deletion patients. These data indicate that the hotspot of unequal crossing over occurs in several populations independently of ethnic background and is directly involved in the pathogenesis of CMT1A and HNPP. We conclude that the detection of junction fragments from the CMT1A-REP element on Southern blot analysis is a simple and reliable DNA diagnostic tool for the identification of the CMT1A duplication and HNPP deletion in most patients. Images PMID:9032649

  15. Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent.

    PubMed

    Timmerman, V; Rautenstrauss, B; Reiter, L T; Koeuth, T; Löfgren, A; Liehr, T; Nelis, E; Bathke, K D; De Jonghe, P; Grehl, H; Martin, J J; Lupski, J R; Van Broeckhoven, C

    1997-01-01

    Charcot-Marie-Tooth type 1 disease (CMT1) and hereditary neuropathy with liability to pressure palsies (HNPP) are common inherited disorders of the peripheral nervous system. The majority of CMT1 patients have a 1.5Mb tandem duplication (CMT1A) in chromosome 17p11.2 while most HNPP patients have a deletion of the same 1.5 Mb region. The CMT1A duplication and HNPP deletion are the reciprocal products of an unequal crossing over event between misaligned flanking CMT1A-REP elements. We analysed 162 unrelated CMT1A duplication patients and HNPP deletion patients from 11 different countries for the presence of a recombination hotspot in the CMT1A-REP sequences. A hotspot for unequal crossing over between the misaligned flanking CMT1A-REP elements was observed through the detection of novel junction fragments in 76.9% of 130 unrelated CMT1A patients and in 71.9% of 32 unrelated HNPP patients. This recombination hotspot was also detected in eight out of 10 de novo CMT1A duplication and in two de novo HNPP deletion patients. These data indicate that the hotspot of unequal crossing over occurs in several populations independently of ethnic background and is directly involved in the pathogenesis of CMT1A and HNPP. We conclude that the detection of junction fragments from the CMT1A-REP element on Southern blot analysis is a simple and reliable DNA diagnostic tool for the identification of the CMT1A duplication and HNPP deletion in most patients.

  16. A 1.5 Mb submicroscopic deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies

    SciTech Connect

    Lorenzetti, D.; Roa, B.B.; Abbas, N.E.

    1994-09-01

    Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant disorder characterized by recurrent mononeuropathies that was recently associated with a 1.5 Mb deletion in chromosome 17p11.2-p12. Duplication of the same region is known to be associated with Charcot-Marie-Tooth disease type 1A (CMT1A), a more severe peripheral neuropathy characterized by symmetrically slowed nerve conduction velocity. The CMT1A duplication and HNPP deletion are reciprocal recombination products involving a repeat element (CMT1A-REP) which flanks the 1.5 Mb region involved in the duplication/deletion. Patients from 9 unrelated HNPP Italian families were clinically, electrophysiologically and histologically evaluated. Families were typed with a polymorphic (CA){sub n} repeat and with RFLPs corresponding to loci D17S122, D17S125 and D17S61, which all map within the deleted region. Lack of allelic transmission from affected parent to affected offspring was observed in four informative families, suggesting the presence of deletion. Southern blot analysis of EcoRI digested genomic DNA from HNPP patients and control subjects was performed using a probe mapping within the CMT1A-REP elements. A reduced hybridization signal of a 6.0 kb EcoRI fragment, mapping within the distal CMT1A-REP, was observed in all HNPP patients suggesting the loss of one copy of this fragment in the HNPP-deleted chromosome. PFGE analysis of SacII digested genomic DNA from selected HNPP subjects showed the presence of a junction fragment which has previously been found in association with the 1.5 Mb HNPP deletion. Evidence for deletion could be demonstrated in all 9 families suggesting that the 17p11.2-p12 deletion is commonly associated with HNPP.

  17. A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies

    SciTech Connect

    Lorenzetti, D.; Pandolfo, M. |; Pareyson, D.; Sghirlanzoni, A.; Di Donato, S.; Roa, B.B.; Abbas, N.E.; Lupski, J.R.

    1995-01-01

    Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant disorder characterized by recurrent mononeuropathies. A 1.5-Mb deletion in chromosome 17p11.2-p12 has been associated with HNPP. Duplication of the same 1.5-Mb region is known to be associated with Charcot-Marie-Tooth disease type 1 (CMT1A), a more severe peripheral neuropathy characterized by symmetrically slowed nerve conduction velocity (NCV). The CMT1A duplication and HNPP deletion appear to be the reciprocal products of a recombination event involving a repeat element (CMT1A-REP) that flanks the 1.5-Mb region involved in the duplication/deletion. Patients from nine unrelated Italian families who were diagnosed with HNPP on the basis of clinical, electrophysiological, and histological evaluations were analyzed by molecular methods for DNA deletion on chromosome 17p. In all nine families, Southern analysis using a CMT1A-REP probe detected a reduced hybridization signal of a 6.0-kb EcoRI fragment mapping within the distal CMT1A-REP, indicating deletion of one copy of CMT1A-REP in these HNPP patients. Families were also typed with a polymorphic (CA){sub n} repeat and with RFLPs corresponding to loci D17S122, D17S125, and D17S61, which all map within the deleted region. Lack of allelic transmission from affected parent to affected offspring was observed in four informative families, providing an independent indication for deletion. Furthermore, pulsed-field gel electrophoresis analysis of SacII-digested genomic DNA detected junction fragments specific to the 1.5-Mb HNPP deletion in seven of nine Italian families included in this study. These findings suggest that a 1.5-Mb deletion on 17p11.2-p12 is the most common mutation associated with HNPP. 51 refs., 5 figs., 1 tab.

  18. A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies.

    PubMed Central

    Lorenzetti, D; Pareyson, D; Sghirlanzoni, A; Roa, B B; Abbas, N E; Pandolfo, M; Di Donato, S; Lupski, J R

    1995-01-01

    Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant disorder characterized by recurrent mononeuropathies. A 1.5-Mb deletion in chromosome 17p11.2-p12 has been associated with HNPP. Duplication of the same 1.5-Mb region is known to be associated with Charcot-Marie-Tooth disease type 1 (CMT1A), a more severe peripheral neuropathy characterized by symmetrically slowed nerve conduction velocity (NCV). The CMT1A duplication and HNPP deletion appear to be the reciprocal products of a recombination event involving a repeat element (CMT1A-REP) that flanks the 1.5-Mb region involved in the duplication/deletion. Patients from nine unrelated Italian families who were diagnosed with HNPP on the basis of clinical, electrophysiological, and histological evaluations were analyzed by molecular methods for DNA deletion on chromosome 17p. In all nine families, Southern analysis using a CMT1A-REP probe detected a reduced hybridization signal of a 6.0-kb EcoRI fragment mapping within the distal CMT1A-REP, indicating deletion of one copy of CMT1A-REP in these HNPP patients. Families were also typed with a polymorphic (CA)n repeat and with RFLPs corresponding to loci D17S122, D17S125, and D17S61, which all map within the deleted region. Lack of allelic transmission from affected parent to affected offspring was observed in four informative families, providing an independent indication for deletion. Furthermore, pulsed-field gel electrophoresis analysis of SacII-digested genomic DNA detected junction fragments specific to the 1.5-Mb HNPP deletion in seven of nine Italian families included in this study. These findings suggest that a 1.5-Mb deletion on 17p11.2-p12 is the most common mutation associated with HNPP. Images Figure 2 Figure 4 Figure 5 PMID:7825607

  19. Family with inflammatory demyelinating polyneuropathy and the HNPP 17p12 deletion.

    PubMed

    Korn-Lubetzki, Isabelle; Argov, Zohar; Raas-Rothschild, Annick; Wirguin, Itzchak; Steiner, Israel

    2002-12-01

    Hereditary neuropathy with liability to pressure palsies (HNPP), classically presenting as recurrent focal neuropathies precipitated by trauma or compression, is an autosomal dominant neuropathy due to a deletion at chromosomal locus 17p12. Inflammatory demyelinating polyneuropathy (IDP), a putative autoimmune disorder presenting in an acute (AIDP) or a chronic form (CIDP), has been rarely reported as familial. We present a father and two daughters of Jewish Kurdish origin who developed IDP within 10 years. The unusual familial history led us to reevaluate the diagnosis of IDP, and suggested an autosomal dominant pedigree. DNA analysis identified the deletion typical of HNPP on chromosome 17. Screening for the HNPP deletion in patients with atypical, recurrent, or familial IDP might be warranted.

  20. The LITAF/SIMPLE I92V sequence variant results in an earlier age of onset of CMT1A/HNPP diseases.

    PubMed

    Sinkiewicz-Darol, Elena; Lacerda, Andressa Ferreira; Kostera-Pruszczyk, Anna; Potulska-Chromik, Anna; Sokołowska, Beata; Kabzińska, Dagmara; Brunetti, Craig R; Hausmanowa-Petrusewicz, Irena; Kochański, Andrzej

    2015-01-01

    Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) represent the most common heritable neuromuscular disorders. Molecular diagnostics of CMT1A/HNPP diseases confirm clinical diagnosis, but their value is limited to the clinical course and prognosis. However, no biomarkers of CMT1A/HNPP have been identified. We decided to explore if the LITAF/SIMPLE gene shared a functional link to the PMP22 gene, whose duplication or deletion results in CMT1A and HNPP, respectively. By studying a large cohort of CMT1A/HNPP-affected patients, we found that the LITAF I92V sequence variant predisposes patients to an earlier age of onset of both the CMT1A and HNPP diseases. Using cell transfection experiments, we showed that the LITAF I92V sequence variant partially mislocalizes to the mitochondria in contrast to wild-type LITAF which localizes to the late endosome/lysosomes and is associated with a tendency for PMP22 to accumulate in the cells. Overall, this study shows that the I92V LITAF sequence variant would be a good candidate for a biomarker in the case of the CMT1A/HNPP disorders.

  1. Rapid diagnosis of CMT1A duplications and HNPP deletions by multiplex microsatellite PCR.

    PubMed

    Choi, Byung-Ok; Kim, Joonki; Lee, Kyung Lyong; Yu, Jin Seok; Hwang, Jung Hee; Chung, Ki Wha

    2007-02-28

    Charcot-Marie-Tooth (CMT) disease and hereditary neuropathy with liability to pressure palsies (HNPP) are frequent forms of genetically heterogeneous peripheral neuropathies. Reciprocal unequal crossover between flanking CMT1A-REPs on chromosome 17p11.2-p12 is a major cause of CMT type 1A (CMT1A) and HNPP. The importance of a sensitive and rapid method for identifying the CMT1A duplication and HNPP deletion is being emphasized. In the present study, we established a molecular diagnostic method for the CMT1A duplication and HNPP deletion based on hexaplex PCR of 6 microsatellite markers (D17S921, D17S9B, D17S9A, D17S918, D17S4A and D17S2230). The method is highly time-, cost- and sample-saving because the six markers are amplified by a single PCR reaction and resolved with a single capillary in 3 h. Several statistical and forensic estimates indicated that most of these markers are likely to be useful for diagnosing the peripheral neuropathies. Reproducibility, as determined by concordance between independent tests, was estimated to be 100%. The likelihood that genotypes of all six markers are homozygous in randomly selected individuals was calculated to be 1.6 x 10(-4) which indicates that the statistical error rate for this diagnosis of HNPP deletion is only 0.016%.

  2. Mutation analysis of the nerve specific promoter of the peripheral myelin protein 22 gene in CMT1 disease and HNPP.

    PubMed

    Nelis, E; De Jonghe, P; De Vriendt, E; Patel, P I; Martin, J J; Van Broeckhoven, C

    1998-07-01

    We analysed the nerve specific promoter of the peripheral myelin protein 22 gene (PMP22) in a set of 15 unrelated patients with Charcot-Marie-Tooth type 1 disease (CMT1) and 16 unrelated patients with hereditary neuropathy with liability to pressure palsies (HNPP). In these patients no duplication/deletion nor a mutation in the coding region of the CMT1/ HNPP genes was detected. In one autosomal dominant CMT1 patient, we identified a base change in the non-coding exon 1A of PMP22 which, however, did not cosegregate with the disease in the family. This study indicates that mutations in the nerve specific PMP22 promoter and 5' untranslated exon will not be a common genetic cause of CMT1A and HNPP.

  3. Tuning PAK Activity to Rescue Abnormal Myelin Permeability in HNPP.

    PubMed

    Hu, Bo; Arpag, Sezgi; Zhang, Xuebao; Möbius, Wiebke; Werner, Hauke; Sosinsky, Gina; Ellisman, Mark; Zhang, Yang; Hamilton, Audra; Chernoff, Jonathan; Li, Jun

    2016-09-01

    Schwann cells in the peripheral nervous systems extend their membranes to wrap axons concentrically and form the insulating sheath, called myelin. The spaces between layers of myelin are sealed by myelin junctions. This tight insulation enables rapid conduction of electric impulses (action potentials) through axons. Demyelination (stripping off the insulating sheath) has been widely regarded as one of the most important mechanisms altering the action potential propagation in many neurological diseases. However, the effective nerve conduction is also thought to require a proper myelin seal through myelin junctions such as tight junctions and adherens junctions. In the present study, we have demonstrated the disruption of myelin junctions in a mouse model (Pmp22+/-) of hereditary neuropathy with liability to pressure palsies (HNPP) with heterozygous deletion of Pmp22 gene. We observed a robust increase of F-actin in Pmp22+/- nerve regions where myelin junctions were disrupted, leading to increased myelin permeability. These abnormalities were present long before segmental demyelination at the late phase of Pmp22+/- mice. Moreover, the increase of F-actin levels correlated with an enhanced activity of p21-activated kinase (PAK1), a molecule known to regulate actin polymerization. Pharmacological inhibition of PAK normalized levels of F-actin, and completely prevented the progression of the myelin junction disruption and nerve conduction failure in Pmp22+/- mice. Our findings explain how abnormal myelin permeability is caused in HNPP, leading to impaired action potential propagation in the absence of demyelination. We call it "functional demyelination", a novel mechanism upstream to the actual stripping of myelin that is relevant to many demyelinating diseases. This observation also provides a potential therapeutic approach for HNPP.

  4. Tuning PAK Activity to Rescue Abnormal Myelin Permeability in HNPP

    PubMed Central

    Hu, Bo; Zhang, Xuebao; Möbius, Wiebke; Werner, Hauke; Sosinsky, Gina; Ellisman, Mark; Zhang, Yang; Hamilton, Audra; Chernoff, Jonathan; Li, Jun

    2016-01-01

    Schwann cells in the peripheral nervous systems extend their membranes to wrap axons concentrically and form the insulating sheath, called myelin. The spaces between layers of myelin are sealed by myelin junctions. This tight insulation enables rapid conduction of electric impulses (action potentials) through axons. Demyelination (stripping off the insulating sheath) has been widely regarded as one of the most important mechanisms altering the action potential propagation in many neurological diseases. However, the effective nerve conduction is also thought to require a proper myelin seal through myelin junctions such as tight junctions and adherens junctions. In the present study, we have demonstrated the disruption of myelin junctions in a mouse model (Pmp22+/-) of hereditary neuropathy with liability to pressure palsies (HNPP) with heterozygous deletion of Pmp22 gene. We observed a robust increase of F-actin in Pmp22+/- nerve regions where myelin junctions were disrupted, leading to increased myelin permeability. These abnormalities were present long before segmental demyelination at the late phase of Pmp22+/- mice. Moreover, the increase of F-actin levels correlated with an enhanced activity of p21-activated kinase (PAK1), a molecule known to regulate actin polymerization. Pharmacological inhibition of PAK normalized levels of F-actin, and completely prevented the progression of the myelin junction disruption and nerve conduction failure in Pmp22+/- mice. Our findings explain how abnormal myelin permeability is caused in HNPP, leading to impaired action potential propagation in the absence of demyelination. We call it “functional demyelination”, a novel mechanism upstream to the actual stripping of myelin that is relevant to many demyelinating diseases. This observation also provides a potential therapeutic approach for HNPP. PMID:27583434

  5. Mutational analysis and genotype/phenotype correlation in Turkish Charcot-Marie-Tooth Type 1 and HNPP patients.

    PubMed

    Bissar-Tadmouri, N; Parman, Y; Boutrand, L; Deymeer, F; Serdaroglu, P; Vandenberghe, A; Battaloglu, E

    2000-11-01

    The major Charcot- Marie-Tooth Type 1 (CMT1) locus, CMT1A, and Hereditary neuropathy with liability to pressure palsies (HNPP) cosegregate with a 1.5-Mb duplication and a 1.5-Mb deletion, respectively, in band 17p11.2. Point mutations in peripheral myelin gene 22 (PMP22), myelin protein zero (MPZ), and connexin 32 (Cx32) have been reported in CMT1, and in PMP22 in HNPP patients without deletion. We have screened 54 CMT1 patients, of variable clinical severity, and 25 HNPP patients from Turkey, with no duplication or deletion, for mutations in the PMP22 and Cx32 genes. A novel frameshift mutation affecting the second extracellular domain of PMP22 was found in an HNPP patient, while a point mutation in the second transmembrane domain of the protein was detected in a CMT1 patient. Two point mutations affecting different domains of Cx32 were identified in two CMTX patients. Another patient was found to carry a polymorphism in a non-conserved codon of the Cx32 gene. The clinical phenotypes of the patients correlate well with the effect of the mutation on the protein.

  6. PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies.

    PubMed

    van Paassen, Barbara W; van der Kooi, Anneke J; van Spaendonck-Zwarts, Karin Y; Verhamme, Camiel; Baas, Frank; de Visser, Marianne

    2014-03-19

    PMP22 related neuropathies comprise (1) PMP22 duplications leading to Charcot-Marie-Tooth disease type 1A (CMT1A), (2) PMP22 deletions, leading to Hereditary Neuropathy with liability to Pressure Palsies (HNPP), and (3) PMP22 point mutations, causing both phenotypes. Overall prevalence of CMT is usually reported as 1:2,500, epidemiological studies show that 20-64% of CMT patients carry the PMP22 duplication. The prevalence of HNPP is not well known. CMT1A usually presents in the first two decades with difficulty walking or running. Distal symmetrical muscle weakness and wasting and sensory loss is present, legs more frequently and more severely affected than arms. HNPP typically leads to episodic, painless, recurrent, focal motor and sensory peripheral neuropathy, preceded by minor compression on the affected nerve. Electrophysiological evaluation is needed to determine whether the polyneuropathy is demyelinating. Sonography of the nerves can be useful. Diagnosis is confirmed by finding respectively a PMP22 duplication, deletion or point mutation. Differential diagnosis includes other inherited neuropathies, and acquired polyneuropathies. The mode of inheritance is autosomal dominant and de novo mutations occur. Offspring of patients have a chance of 50% to inherit the mutation from their affected parent. Prenatal testing is possible; requests for prenatal testing are not common. Treatment is currently symptomatic and may include management by a rehabilitation physician, physiotherapist, occupational therapist and orthopaedic surgeon. Adult CMT1A patients show slow clinical progression of disease, which seems to reflect a process of normal ageing. Life expectancy is normal.

  7. PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies

    PubMed Central

    2014-01-01

    PMP22 related neuropathies comprise (1) PMP22 duplications leading to Charcot-Marie-Tooth disease type 1A (CMT1A), (2) PMP22 deletions, leading to Hereditary Neuropathy with liability to Pressure Palsies (HNPP), and (3) PMP22 point mutations, causing both phenotypes. Overall prevalence of CMT is usually reported as 1:2,500, epidemiological studies show that 20-64% of CMT patients carry the PMP22 duplication. The prevalence of HNPP is not well known. CMT1A usually presents in the first two decades with difficulty walking or running. Distal symmetrical muscle weakness and wasting and sensory loss is present, legs more frequently and more severely affected than arms. HNPP typically leads to episodic, painless, recurrent, focal motor and sensory peripheral neuropathy, preceded by minor compression on the affected nerve. Electrophysiological evaluation is needed to determine whether the polyneuropathy is demyelinating. Sonography of the nerves can be useful. Diagnosis is confirmed by finding respectively a PMP22 duplication, deletion or point mutation. Differential diagnosis includes other inherited neuropathies, and acquired polyneuropathies. The mode of inheritance is autosomal dominant and de novo mutations occur. Offspring of patients have a chance of 50% to inherit the mutation from their affected parent. Prenatal testing is possible; requests for prenatal testing are not common. Treatment is currently symptomatic and may include management by a rehabilitation physician, physiotherapist, occupational therapist and orthopaedic surgeon. Adult CMT1A patients show slow clinical progression of disease, which seems to reflect a process of normal ageing. Life expectancy is normal. PMID:24646194

  8. Mutation analysis of PMP22 in Slovak patients with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies.

    PubMed

    Resko, Peter; Radvansky, Jan; Odnogova, Zuzana; Baldovic, Marian; Minarik, Gabriel; Polakova, Helena; Palffy, Roland; Kadasi, Ludevit

    2011-12-01

    Charcot-Marie-Tooth disease (CMT) and related peripheral neuropathies are the most commonly inherited neurological disorders in humans, characterized by clinical and genetic heterogeneity. The most prevalent clinical entities belonging to this group of disorders are CMT type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP). CMT1A and HNPP are predominantly caused by a 1.5 Mb duplication and deletion in the chromosomal region 17p11.2, respectively, and less frequently by other mutations in the peripheral myelin protein 22 (PMP22) gene. Despite being relatively common diseases, they haven't been previously studied in the Slovak population. Therefore, the aim of this study was to identify the spectrum and frequency of PMP22 mutations in the Slovak population by screening 119 families with CMT and 2 families with HNPP for causative mutations in this gene. The copy number determination of PMP22 resulted in the detection of CMT1A duplication in 40 families and the detection of HNPP deletion in 7 families, 6 of which were originally diagnosed as CMT. Consequent mutation screening of families without duplication or deletion using dHPLC and sequencing identified 6 single base changes (3 unpublished to date), from which only c.327C>A (Cys109X) present in one family was provably causative. These results confirm the leading role of PMP22 mutation analysis in the differential diagnosis of CMT and show that the spectrum and frequency of PMP22 mutations in the Slovak population is comparable to that seen in the global population.

  9. Afferent Visual Pathway Affection in Patients with PMP22 Deletion-Related Hereditary Neuropathy with Liability to Pressure Palsies

    PubMed Central

    Rinnenthal, Jan Leo; Zimmermann, Hanna; Mikolajczak, Janine; Oberwahrenbrock, Timm; Papazoglou, Sebastian; Pfüller, Caspar F.; Schinzel, Johann; Tackenberg, Björn; Paul, Friedemann; Hahn, Katrin; Bellmann-Strobl, Judith

    2016-01-01

    Background The PMP22 gene encodes a protein integral to peripheral myelin. Its deletion leads to hereditary neuropathy with liability to pressure palsies (HNPP). PMP22 is not expressed in the adult central nervous system, but previous studies suggest a role in CNS myelin development. The objective of this study was to identify potential structural and functional alterations in the afferent visual system in HNPP patients. Methods Twenty HNPP patients and 18 matched healthy controls (HC) were recruited in a cross-sectional study. Participants underwent neurological examination including visual acuity, visual evoked potential (VEP) examination, optical coherence tomography (OCT), and magnetic resonance imaging with calculation of brain atrophy, regarding grey and white matter, and voxel based morphometry (VBM), in addition answered the National Eye Institute’s 39-item Visual Functioning Questionnaire (NEI-VFQ). Thirteen patients and 6 HC were additionally examined with magnetic resonance spectroscopy (MRS). Results All patients had normal visual acuity, but reported reduced peripheral vision in comparison to HC in the NEI-VFQ (p = 0.036). VEP latency was prolonged in patients (P100 = 103.7±5.7 ms) in comparison to healthy subjects (P100 = 99.7±4.2 ms, p = 0.007). In OCT, peripapillary retinal nerve fiber layer thickness RNFL was decreased in the nasal sector (90.0±15.5 vs. 101.8±16.5, p = 0.013), and lower nasal sector RNFL correlated with prolonged VEP latency (Rho = -0.405, p = 0.012). MRS revealed reduced tNAA (731.4±45.4 vs. 814.9±62.1, p = 0.017) and tCr (373.8±22.2 vs. 418.7±31.1, p = 0.002) in the visual cortex in patients vs. HC. Whole brain volume, grey and white matter volume, VBM and metabolites in a MRS sensory cortex control voxel did not differ significantly between patients and HC. Conclusion PMP22 deletion leads to functional, metabolic and macro-structural alterations in the afferent visual system of HNPP patients. Our data suggest a

  10. Analysis of the CMT1A-REP repeat: mapping crossover breakpoints in CMT1A and HNPP.

    PubMed

    Kiyosawa, H; Lensch, M W; Chance, P F

    1995-12-01

    The CMT1A-REP repeat sequence flanks a 1.5 megabase pair (Mb) segment of chromosome 17p11.2-12 which is duplicated in Charcot-Marie-Tooth neuropathy type 1A (CMT1A) and deleted in hereditary neuropathy with liability to pressure palsies (HNPP). The CMT1A-REP repeat is proposed to mediate misalignment and unequal crossover resulting in reciprocal chromosomal rearrangements in CMT1A and HNPP. We have constructed a physical map of the proximal and distal CMT1A-REP repeats. Cloned fragments from CMT1A-REP repeat regions are used to determine the size of the repeats and assess regions of homology. The crossover breakpoints were mapped in series of 30 unrelated CMT1A patients and 22 unrelated HNPP patients. The CMT1A-REP repeat spans approximately 27 kilobase pairs and appears to be continuous. Locations of restriction enzyme sites are highly conserved for the proximal and distal CMT1A-REP repeats. All crossovers mapped within the CMT1A-REP repeat sequence and heterogeneity for breakpoint location demonstrated. Seventy-seven percent (40 to 52) of CMT1A and HNPP chromosomes contained breakpoints which mapped within a 7.9 kb interval, suggesting the presence of a possible 'hotspot'for recombination in CMT1A-REP. DNA sequence analysis for 4 kb of the interval containing the majority of crossovers revealed over 98% sequence identity between proximal and distal CMT1A-REP repeat sequences. Probes useful for molecular-based diagnosis of CMT1A and HNPP are described.

  11. Hereditary Neuropathy with Liability to Pressure Palsy Presenting as an Acute Brachial Plexopathy: A Lover's Palsy

    PubMed Central

    Wedderburn, Sarah; Pateria, Puraskar; Panegyres, Peter K.

    2014-01-01

    It is generally regarded that patients with hereditary neuropathy to pressure palsies, due to a deletion in the PMP22 gene, show recurrent pressure palsy and generalised peripheral neuropathy (pes cavus and hammer toes sometimes develop). Brachial plexopathy is rarely identified as a first presentation of hereditary neuropathy to pressure palsies. We describe a young man who developed a painless flail upper limb with a clinical diagnosis of a brachial plexopathy after his partner slept on his arm – a PMP22 deletion was found. His father, who had a symmetrical polyneuropathy without recurrent mononeuropathies, shared the PMP22 deletion. PMID:25685136

  12. Effectiveness of real-time quantitative PCR compare to repeat PCR for the diagnosis of Charcot-Marie-Tooth Type 1A and hereditary neuropathy with liability to pressure palsies.

    PubMed

    Choi, Jong Rak; Lee, Woon Hyoung; Sunwoo, Il Nam; Lee, Eun Kyung; Lee, Chang Hoon; Lim, Jong Baeck

    2005-06-30

    The majority of cases of Charcot-Marie-Tooth type 1A (CMT1A) and of hereditary neuropathy with a liability to pressure palsies (HNPP) are the result of heterozygosity for the duplication or deletion of peripheral myelin protein 22 gene (PMP22) on 17p11.2. Southern blots, pulsed-field gel electrophoresis (PFGE), fluorescence in situ hybridization (FISH) and polymorphic marker analysis are currently used diagnostic methods. But they are time-consuming, labor-intensive and have some significant limitations. We describe a rapid real- time quantitative PCR method for determining gene copy number for the identification of DNA duplication or deletion occurring in CMT1A or HNPP and compare the results obtained with REP-PCR. Six patients with CMT1A and 14 patients with HNPP [confirmed by Repeat (REP)-PCR], and 16 patients with suspicious CMT1A and 13 patients with suspicious HNPP [negative REP-PCR], and 15 normal controls were studied. We performed REP-PCR, which amplified a 3.6 Kb region (including a 1.7Kb recombination hotspot), using specific CMT1A-REP and real-time quantitative PCR on the LightCycler system. Using a comparative threshold cycle (Ct) method and beta -globin as a reference gene, the gene copy number of the PMP22 gene was quantified. The PMP22 duplication ratio ranged from 1.35 to 1.74, and the PMP22 deletion ratio from 0.41 to 0.53. The PMP22 ratio in normal controls ranged from 0.81 to 1.12. All 6 patients with CMT1A and 14 patients with HNPP confirmed by REP-PCR were positive by real-time quantitative PCR. Among the 16 suspicious CMT1A and 13 suspicious HNPP with negative REP-PCR, 2 and 4 samples, respectively, were positive by real-time quantitative PCR. Real-time quantitative PCR is a more sensitive and more accurate method than REP-PCR for the detection of PMP22 duplications or deletions, and it is also faster and easier than currently available methods. Therefore, we believe that the real-time quantitative method is useful for diagnosing CMT1A and

  13. Improved testing for CMT1A and HNPP using multiplex ligation-dependent probe amplification (MLPA) with rapid DNA preparations: comparison with the interphase FISH method.

    PubMed

    Slater, Howard; Bruno, Damien; Ren, Hua; La, Phung; Burgess, Trent; Hills, Louise; Nouri, Sara; Schouten, Jan; Choo, K H Andy

    2004-08-01

    Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) are the two most common peripheral neuropathies, with incidences of about 1 in 2,500. Several techniques can be used to detect the typical 1.5-Mb duplication or deletion associated with these respective conditions, but none combines simplicity with high sensitivity. MLPA is a new technique for measuring sequence dosage. We have assessed its performance for the detection of the specific 1.5-Mb duplication/deletion by prospectively testing 50 patients referred with differential diagnoses of CMT or HNPP. Probes were designed to evaluate the TEKT3, PMP22, and COX10 genes within the CMT1A/HNPP region. We have compared the results with our existing fluorescence in situ hybridization (FISH) assay, which was performed in parallel. There was concordance of results for 49 patients. Of note, one patient showed an intermediate multiplex ligation-dependent probe amplification (MLPA) result with an abnormal FISH result, which is consistent with mosaicism. The assay works equally well with either purified DNA or rapid DNA preparations made by direct cell lysis. The use of the latter significantly reduces the cost of the assay. MLPA is a sensitive, specific, robust, and cost-effective technique suitable for fast, high-throughput testing and offers distinct advantages over other testing methods.

  14. A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP.

    PubMed

    Thiel, Christian T; Kraus, Cornelia; Rauch, Anita; Ekici, Arif B; Rautenstrauss, Bernd; Reis, André

    2003-02-01

    A 1.4-Mb tandem duplication, including the gene for peripheral myelin protein 22 (PMP22) in chromosome 17p11.2-12 is responsible for 70% of the cases of the demyelinating type 1 of Charcot-Marie-Tooth disease or hereditary motor and sensory neuropathy I (CMT1A/HMSN I). A reciprocal deletion of this CMT1A region causes the hereditary neuropathy with liability to pressure palsies (HNPP). The CMT1A duplication increases the PMP22 gene dosage from two to three, the HNPP deletion reduces the gene dosage from two to one. Currently, routine diagnosis of HMSN/HNPP patients is mainly performed with polymorphic markers in-between the repetitive elements flanking the CMT1A region. These show quantitative and/or qualitative changes in case of a CMT1A duplication and a homozygous allele pattern in case of HNPP deletion. In HNPP patients the deletion is usually confirmed by fluorescence in situ hybridisation (FISH). We now developed a reliable, single tube real-time quantitative PCR assay for rapid determination of PMP22 gene dosage directly. This method involves a multiplex reaction using FAM labelled Taqman-probe with TAMRA quencher derived from PMP22 exon 3 and a VIC labelled probe with non-fluorescent quencher from exon 12 of the albumin gene as internal reference. Copy number of the PMP22 gene was determined by the comparative threshold cycle method (deltadeltaCt). Each sample was run in quadruplicate and analysed at two different threshold levels. The level giving the smallest standard deviation was scored. We evaluated this method through the retrospective analysis of 252 HMSN patients with known genotype and could confirm the previous findings in 99% of cases. Two patients were wrongly diagnosed with microsatellite analysis while quantitative real-time PCR identified the correct genotype, as confirmed by FISH. Thus, this method shows superior sensitivity to microsatellite analysis and has the additional advantage of being a fast and uniform assay for quantitative

  15. Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: Implications for testing in the cytogenetics laboratory

    SciTech Connect

    Shaffer, L.G.; Kennedy, G.M.; Spikes, A.S.

    1997-03-31

    Charcot-Marie-Tooth (CMT) disease type 1A is an inherited peripheral neuropathy characterized by slowly progressive distal muscle wasting and weakness, decreased nerve conduction velocities, and genetic linkage to 17p12. Most (>98%) CMT1A cases are caused by a DNA duplication of a 1.5-Mb region in 17p12 containing the PMP22 gene. The reciprocal product of the CMT1A duplication is a 1.5-Mb deletion which causes hereditary neuropathy with liability to pressure palsies (HNPP). The most informative current diagnostic testing requires pulsed-field gel electrophoresis to detect DNA rearrangement-specific junction fragments. We investigated the use of interphase FISH for the detection of duplications and deletions for these disorders in the clinical molecular cytogenetics laboratory. Established cell lines or blood specimens from 23 individuals with known molecular diagnoses and 10 controls were obtained and scored using a two-color FISH assay. At least 70%, of CMT1A cells displayed three signals consistent with duplications. Using this minimum expected percentile to make a CMT1A duplication diagnosis, all patients with CMT1A showed a range of 71-92% of cells displaying at least three signals. Of the HNPP cases, 88% of cells displayed only one hybridization signal, consistent with deletions. The PMP22 locus from normal control individuals displayed a duplication pattern in {approximately}9% of cells, interpreted as replication of this locus. The percentage of cells showing replication was significantly lower than in those cells displaying true duplications. We conclude that FISH can be reliably used to diagnose CMT1A and HNPP in the clinical cytogenetics laboratory and to readily distinguish the DNA rearrangements associated with these disorders from individuals without duplication or deletion of the PMP22 locus. 43 refs., 4 figs., 2 tabs.

  16. Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients.

    PubMed

    Reiter, L T; Hastings, P J; Nelis, E; De Jonghe, P; Van Broeckhoven, C; Lupski, J R

    1998-05-01

    The HNPP (hereditary neuropathy with liability to pressure palsies) deletion and CMT1A (Charcot-Marie-Tooth disease type 1A) duplication are the reciprocal products of homologous recombination events between misaligned flanking CMT1A-REP repeats on chromosome 17p11. 2-p12. A 1.7-kb hotspot for homologous recombination was previously identified wherein the relative risk of an exchange event is 50 times higher than in the surrounding 98.7% identical sequence shared by the CMT1A-REPs. To refine the region of exchange further, we designed a PCR strategy to amplify the recombinant CMT1A-REP from HNPP patients as well as the proximal and distal CMT1A-REPs from control individuals. By comparing the sequences across recombinant CMT1A-REPs to that of the proximal and distal CMT1A-REPs, the exchange was mapped to a 557-bp region within the previously identified 1.7-kb hotspot in 21 of 23 unrelated HNPP deletion patients. Two patients had recombined sequences suggesting an exchange event closer to the mariner-like element previously identified near the hotspot. Five individuals also had interspersed patches of proximal or distal repeat specific DNA sequence indicating potential gene conversion during the exchange of genetic material. Our studies provide a direct observation of human meiotic recombination products. These results are consistent with the hypothesis that minimum efficient processing segments, which have been characterized in Escherichia coli, yeast, and cultured mammalian cells, may be required for efficient homologous meiotic recombination in humans.

  17. Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: implications for testing in the cytogenetics laboratory.

    PubMed

    Shaffer, L G; Kennedy, G M; Spikes, A S; Lupski, J R

    1997-03-31

    Charcot-Marie-Tooth (CMT) disease type 1A is an inherited peripheral neuropathy characterized by slowly progressive distal muscle wasting and weakness, decreased nerve conduction velocities, and genetic linkage to 17p12. Most (> 98%) CMT1A cases are caused by a DNA duplication of a 1.5-Mb region in 17p12 containing the PMP22 gene. The reciprocal product of the CMT1A duplication is a 1.5-Mb deletion which causes hereditary neuropathy with liability to pressure palsies (HNPP). The most informative current diagnostic testing requires pulsed-field gel electrophoresis to detect DNA rearrangement-specific junction fragments. We investigated the use of interphase FISH for the detection of duplications and deletions for these disorders in the clinical molecular cytogenetics laboratory. Established cell lines or blood specimens from 23 individuals with known molecular diagnoses and 10 controls were obtained and scored using a two-color FISH assay. At least 70% of CMT1A cells displayed three signals consistent with duplications. Using this minimum expected percentile to make a CMT1A duplication diagnosis, all patients with CMT1A showed a range of 71-92% of cells displaying at least three signals. Of the HNPP cases, 88% of cells displayed only one hybridization signal, consistent with deletions. The PMP22 locus from normal control individuals displayed a duplication pattern in approximately 9% of cells, interpreted as replication of this locus. The percentage of cells showing replication was significantly lower than in those cells displaying true duplications. We conclude that FISH can be reliably used to diagnose CMT1A and HNPP in the clinical cytogenetics laboratory and to readily distinguish the DNA rearrangements associated with these disorders from individuals without duplication or deletion of the PMP22 locus.

  18. Recombination hot spot in 3.2-kb region of the Charcot-Marie Tooth type 1A repeat sequences: New tools for molecular diagnosis of hereditary neuropathy with liability to pressure palsies and of Charcot-Marie-Tooth type 1A

    SciTech Connect

    Lopes, J.; LeGuern, E.; Gouider, R.; Tardieu, S.; Abbas, N.

    1996-06-01

    Charcot-Marie-Tooth type 1A (CMT1A) disease and hereditary neuropathy with liability to pressure palsies (HNPP) are autosomal dominant neuropathies, associated, respectively, with duplications and deletions of the same 1.5-Mb region on 17p11.2-p12. These two rearrangements are the reciprocal products of an unequal meiotic crossover between the two chromosome 17 homologues, caused by the misalignment of the CMT1A repeat sequences (CMT1A-REPs), the homologous sequences flanking the 1.5-Mb CMT1A/HNPP monomer unit. In order to map recombination breakpoints within the CMT1A-REPs, a 12.9-kb restriction map was constructed from cloned EcoRI fragments of the proximal and distal CMT1A-REPs. Only 3 of the 17 tested restriction sites were present in the proximal CMT1A-REP but absent in the distal CMT1A-REP, indicating a high degree of homology between these sequences. The rearrangements were mapped in four regions of the CMT1A-REPs by analysis of 76 CMT1A index cases and 38 HNPP patients, who were unrelated. A hot spot of crossover breakpoints located in a 3.2-kb region accounted for three-quarters of the rearrangements, detected after EcoRI/SacI digestion, by the presence of 3.2-kb and 7.8-kb junction fragments in CMT1A and HNPP patients, respectively. These junction fragments, which can be detected on classical Southern blots, permit molecular diagnosis. Other rearrangements can also be detected by gene dosage on the same Southern blots. 25 refs., 4 figs., 2 tabs.

  19. [A case of HNPP presenting with late onset of symptoms, chronic progressive course and sensory impairment in face and trunk].

    PubMed

    Yakushiji, Yusuke; Kurohara, Kazuhiro; Yoshimura, Toshiro; Yamamoto, Masahiko; Kuroda, Yasuo

    2004-03-01

    A 69-year-old man was admitted with a chief complaint of progressive muscle weakness and tingling sensation in the distal portion of all extremities since the age of 55. On neurological examination, sensory impairment of all modalities was noted in the right side of face, segmental areas of the right Th4-10 and the distal portion of four extremities. Symmetrical muscle weakness and atrophy was also found over the distal portion of all extremities. All deep tendon reflexes except biceps brachii reflexes were absent. Neurophysiological studies, however, rather indicated mononeuritis multiplex in this case. The biopsied specimen of the sural nerve showed a significant decrease in large myelinated fibers and many tomaculous changes. The gene analysis revealed deletion in the CMT 1A locus on chromosome 17p11.2, providing evidence for the diagnosis of hereditary neuropathy with liability to pressure palsies (HNPP). The development of sensory impairment in face or thoracic nerves is quite rare in HNPP, indicating that there exists considerable phenotypic heterogeneity in the disease.

  20. Isolation of novel genes from the CMT1A duplication/HNPP deletion critical region in 17p11.2-p12.

    PubMed

    Murakami, T; Sun, Z S; Lee, C C; Lupski, J R

    1997-01-01

    Charcot-Marie-Tooth disease type 1A (CMT1A) is associated with a 1.5-Mb tandem DNA duplication in chromosome 17p11.2-p12, while hereditary neuropathy with liability to pressure palsies (HNPP) is associated with a 1.5-Mb deletion at this locus. The 1.5-Mb CMT1A monomer unit duplicated in CMT1A and deleted in HNPP is flanked by low-copy repeats termed CMT1A-REPs. Both diseases appear to be caused by an altered copy number of the peripheral myelin protein 22 gene (PMP22), which lies within the critical region. To identify additional genes rapidly, we used a cosmid contig of this region and reciprocal probing of arrayed chromosome 17-specific cosmid and cDNA libraries. Three cDNA clones were identified within the CMT1A duplication/HNPP deletion region and one just proximal to the critical region. The cDNA for human heme A:farnesyltransferase (COX10) mapped 10 kb centromeric to the distal CMT1A-REP. The other two cDNA clones from within the critical interval mapped to cosmid 126D1 at the mfd41 (D17S261) DNA marker, and their conceptual translation showed homology to 60S ribosomal protein L9 (RPL9) and chromosomal protein RMSA-1 (RMSA-1). A gene that is homologous to human peroxisome proliferator activated receptor alpha (hPPARA) was identified near the proximal CMT1A-REP.

  1. A 1.5-Mb cosmid contig of the CMT1A duplication/HNPP deletion critical region in 17p11.2-p12

    SciTech Connect

    Murakami, Tatsufumi; Lupski, J.R.

    1996-05-15

    Charcot-Marie-Tooth disease type 1A (CMT1A) is associated with a 1.5-Mb tandem duplication in chromosome 17p11.2-p12, and hereditary neuropathy with liability to pressure palsies (HNPP) is associated with a 1.5-Mb deletion at this locus. Both diseases appear to result from an altered copy number of the peripheral myelin protein-22 gene, PMP22, which maps within the critical region. To identify additional genes and characterize chromosomal elements, a 1.5-Mb cosmid contig of the CMT1A duplication/HNPP deletion critical region was assembled using a yeast artificial chromosome (YAC)-based isolation and binning strategy. Whole YAC probes were used for screening a high-density arrayed chromosome 17-specific cosmid library. Selected cosmids were spotted on dot blots and assigned to bins defined by YACs. This binning of cosmids facilitated the subsequent fingerprint analysis. The 1.5-Mb region was covered by 137 cosmids with a minimum overlap set of 52 cosmids assigned to 17 bins and 9 contigs. 20 refs., 2 figs.

  2. A 1.5-Mb cosmid contig of the CMT1A duplication/HNPP deletion critical region in 17p11.2-p12.

    PubMed

    Murakami, T; Lupski, J R

    1996-05-15

    Charcot-Marie-Tooth disease type 1A (CMT1A) is associated with a 1. 5-Mb tandem duplication in chromosome 17p11.2-p12, and hereditary neuropathy with liability to pressure palsies (HNPP) is associated with a 1.5-Mb deletion at this locus. Both diseases appear to result from an altered copy number of the peripheral myelin protein-22 gene, PMP22, which maps within the critical region. To identify additional genes and characterize chromosomal elements, a 1.5-Mb cosmid contig of the CMT1A duplication/HNPP deletion critical region was assembled using a yeast artificial chromosome (YAC)-based isolation and binning strategy. Whole YAC probes were used for screening a high-density arrayed chromosome 17-specific cosmid library. Selected cosmids were spotted on dot blots and assigned to bins defined by YACs. This binning of cosmids facilitated the subsequent fingerprint analysis. The 1.5-Mb region was covered by 137 cosmids with a minimum overlap set of 52 cosmids assigned to 17 bins and 9 contigs.

  3. Locations of crossover breakpoints within the CMT1A-REP repeat in Japanese patients with CMT1A and HNPP.

    PubMed

    Yamamoto, M; Yasuda, T; Hayasaka, K; Ohnishi, A; Yoshikawa, H; Yanagihara, T; Ikegami, T; Yamamoto, T; Ohashi, H; Nishimura, T; Mitsuma, T; Kiyosawa, H; Chance, P F; Sobue, G

    1997-02-01

    The crossover breakpoints for Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) are located in the CMT1A-REP repeat flanking a 1.5-Mb region of chromosome 17p11.2-12. The precise locations of the breakpoints are heterogeneous, and we analyzed the relative frequency distribution of breakpoints in 33 unrelated Japanese CMT1A and 3 unrelated HNPP families. The CMT1A-REP repeat region was divided into five regions, A, B, C, D and E, based on restriction site differences between the proximal and distal CMT1A-REP repeats. The frequency distribution of breakpoints within the CMT1A-REP repeat in the Japanese patients was 3% in region A, .78% in B/C and 19% in D, which is similar to that in Caucasian patients. This result also indicates that an 8-kb region defined by region B/C is a recombinational hotspot within the CMT1A-REP repeat in Japanese patients.

  4. Foot pressure distribution in children with cerebral palsy while standing.

    PubMed

    Galli, Manuela; Cimolin, Veronica; Pau, Massimiliano; Leban, Bruno; Brunner, Reinald; Albertini, Giorgio

    2015-01-01

    Foot deformity is a major component of impaired functioning in cerebral palsy (CP). While gait and balance issues related to CP have been studied extensively, there is little information to date on foot-ground interaction (i.e. contact area and plantar pressure distribution). This study aimed to characterize quantitatively the foot-ground contact parameters during static upright standing in hemiplegia and diplegia. We studied 64 children with hemiplegia (mean age 8.2 years; SD 2.8 years) and 43 with diplegia (mean age 8.8 years; SD 2.3 years) while standing on both legs statically on a pressure sensitive mat. We calculated pressure data for the whole foot and sub-regions (i.e. rearfoot, midfoot and forefoot) and average contact pressure. The Arch Index (AI) served for classifying the feet as flat, normal or cavus feet. The data were compared with those from a sample of age- and gender-matched participants (control group, 68 children). Most of the feet showed very high AI values, thus indicating a flat foot. This deformity was more common in diplegia (74.4%) than in hemiplegia (54.7%). In both diplegic and hemiplegic children, average plantar pressure was significantly increased in the forefoot and midfoot and decreased in the rearfoot (p<0.001). The present data indicate an increased load on the front parts of the foot, which may be due to plantarflexor overactivity or knee flexion, combined with an increased incidence of low foot arches. As a low foot arch does not necessarily increase forefoot load, this deformity can be regarded as secondary.

  5. Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability.

    PubMed

    Zhang, Feng; Seeman, Pavel; Liu, Pengfei; Weterman, Marian A J; Gonzaga-Jauregui, Claudia; Towne, Charles F; Batish, Sat Dev; De Vriendt, Els; De Jonghe, Peter; Rautenstrauss, Bernd; Krause, Klaus-Henning; Khajavi, Mehrdad; Posadka, Jan; Vandenberghe, Antoon; Palau, Francesc; Van Maldergem, Lionel; Baas, Frank; Timmerman, Vincent; Lupski, James R

    2010-06-11

    Genomic rearrangements involving the peripheral myelin protein gene (PMP22) in human chromosome 17p12 are associated with neuropathy: duplications cause Charcot-Marie-Tooth disease type 1A (CMT1A), whereas deletions lead to hereditary neuropathy with liability to pressure palsies (HNPP). Our previous studies showed that >99% of these rearrangements are recurrent and mediated by nonallelic homologous recombination (NAHR). Rare copy number variations (CNVs) generated by nonrecurrent rearrangements also exist in 17p12, but their underlying mechanisms are not well understood. We investigated 21 subjects with rare CNVs associated with CMT1A or HNPP by oligonucleotide-based comparative genomic hybridization microarrays and breakpoint sequence analyses, and we identified 17 unique CNVs, including two genomic deletions, ten genomic duplications, two complex rearrangements, and three small exonic deletions. Each of these CNVs includes either the entire PMP22 gene, or exon(s) only, or ultraconserved potential regulatory sequences upstream of PMP22, further supporting the contention that PMP22 is the critical gene mediating the neuropathy phenotypes associated with 17p12 rearrangements. Breakpoint sequence analysis reveals that, different from the predominant NAHR mechanism in recurrent rearrangement, various molecular mechanisms, including nonhomologous end joining, Alu-Alu-mediated recombination, and replication-based mechanisms (e.g., FoSTeS and/or MMBIR), can generate nonrecurrent 17p12 rearrangements associated with neuropathy. We document a multitude of ways in which gene function can be altered by CNVs. Given the characteristics, including small size, structural complexity, and location outside of coding regions, of selected rare CNVs, their identification remains a challenge for genome analysis. Rare CNVs may potentially represent an important portion of "missing heritability" for human diseases.

  6. Fine mapping of de novo CMT1A and HNPP rearrangements within CMT1A-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombination.

    PubMed

    Lopes, J; Ravisé, N; Vandenberghe, A; Palau, F; Ionasescu, V; Mayer, M; Lévy, N; Wood, N; Tachi, N; Bouche, P; Latour, P; Ruberg, M; Brice, A; LeGuern, E

    1998-01-01

    The molecular mechanism resulting in the duplication or deletion of a 1.5 Mb region of 17p11.2-p12, associated, respectively, with Charcot-Marie-Tooth type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP), has been proposed to be an unequal crossing-over during meiosis between the two chromosome 17 homologues generated by misalignment of the proximal and distal CMT1A-REP repeats, two homologous sequences flanking the 1.5 Mb CMT1A/HNPP monomer unit. In a recent study of a large series of de novo cases of CMT1A and HNPP, two distinct sex-dependent mechanisms were identified. Rearrangements of paternal origin, essentially duplications, were indeed generated by unequal meiotic crossing-over between the two chromosome 17 homologues, but duplications and deletions of maternal origin resulted from an intrachromosomal process, either unequal sister chromatid exchange or, in the case of deletion, excision of an intrachromatidal loop. In order to determine how these recombinations occur, 24 de novo crossover breakpoints were localized within the 1.7 kb rearrangement hot spot by comparing the sequences of the parental CMT1A-REPs with the chimeric copy in affected offspring. Nineteen out of 21 paternal crossovers were found in a 741 bp hot spot. All the breakpoints of maternal origin (n = 3), however, were located outside this interval, but in closely flanking sequences, supporting the hypothesis that two distinct sex-dependent mechanisms are involved. Several putative recombination promoting sequences in the hot spot, which are rare or absent in the surrounding 7.8 kb, were identified.

  7. Comparison of differences in respiratory function and pressure as a predominant abnormal movement of children with cerebral palsy

    PubMed Central

    Kwon, Hae-Yeon

    2017-01-01

    [Purpose] The purpose of this study was to determine differences in respiratory function and pressure among three groups of children with cerebral palsy as a predominant abnormal movement which included spastic type, dyskinetic type, and ataxic type. [Subjects and Methods] Forty-three children with cerebral palsy of 5–13 years of age in I–III levels according to the Gross Motor Function Classification System, the study subjects were divided by stratified random sampling into three groups of spastic type, dyskinetic type, and ataxic type. For reliability of the measurement results, respiratory function and pressure of the children with cerebral palsy were measured by the same inspector using Spirometer Pony FX (Cosmed Ltd., Italy) equipment, and the subject’s guardians (legal representative) was always made to observe. [Results] In the respiratory function, there were significant differences among three groups in all of forced vital capacity, forced expiratory volume at one second, and peak expiratory flow. For respiratory pressure, the maximal inspiratory pressure had significant differences among three groups, although the maximal expiratory pressure had no significant difference. [Conclusion] Therefore, pediatric physical therapists could be provided with important clinical information in understanding the differences in respiratory function and pressure for the children with cerebral palsy showing predominantly abnormal movement as a diverse qualitative characteristics of the muscle tone and movement patterns, and in planning intervention programs for improvement of respiratory capacity. PMID:28265153

  8. Comparison of differences in respiratory function and pressure as a predominant abnormal movement of children with cerebral palsy.

    PubMed

    Kwon, Hae-Yeon

    2017-02-01

    [Purpose] The purpose of this study was to determine differences in respiratory function and pressure among three groups of children with cerebral palsy as a predominant abnormal movement which included spastic type, dyskinetic type, and ataxic type. [Subjects and Methods] Forty-three children with cerebral palsy of 5-13 years of age in I-III levels according to the Gross Motor Function Classification System, the study subjects were divided by stratified random sampling into three groups of spastic type, dyskinetic type, and ataxic type. For reliability of the measurement results, respiratory function and pressure of the children with cerebral palsy were measured by the same inspector using Spirometer Pony FX (Cosmed Ltd., Italy) equipment, and the subject's guardians (legal representative) was always made to observe. [Results] In the respiratory function, there were significant differences among three groups in all of forced vital capacity, forced expiratory volume at one second, and peak expiratory flow. For respiratory pressure, the maximal inspiratory pressure had significant differences among three groups, although the maximal expiratory pressure had no significant difference. [Conclusion] Therefore, pediatric physical therapists could be provided with important clinical information in understanding the differences in respiratory function and pressure for the children with cerebral palsy showing predominantly abnormal movement as a diverse qualitative characteristics of the muscle tone and movement patterns, and in planning intervention programs for improvement of respiratory capacity.

  9. Hereditary neuropathy with liability to pressure palsy: a recurrent and bilateral foot drop case report.

    PubMed

    Flor-de-Lima, Filipa; Macedo, Liliana; Taipa, Ricardo; Melo-Pires, Manuel; Rodrigues, Maria Lurdes

    2013-01-01

    Hereditary neuropathy with liability to pressure palsy is characterized by acute, painless, recurrent mononeuropathies secondary to minor trauma or compression. A 16-year-old boy had the first episode of right foot drop after minor motorcycle accident. Electromyography revealed conduction block and slowing velocity conduction of the right deep peroneal nerve at the fibular head. After motor rehabilitation, he fully recovered. Six months later he had the second episode of foot drop in the opposite site after prolonged squatting position. Electromyography revealed sensorimotor polyneuropathy of left peroneal, sural, posterior tibial, and deep peroneal nerves and also of ulnar, radial, and median nerves of both upper limbs. Histological examination revealed sensory nerve demyelination and focal thickenings of myelin fibers. The diagnosis of hereditary neuropathy with liability to pressure palsy was confirmed by PMP22 deletion of chromosome 17p11.2. He started motor rehabilitation and avoidance of stressing factors with progressive recovery. After one-year followup, he was completely asymptomatic. Recurrent bilateral foot drop history, "sausage-like" swellings of myelin in histological examination, and the results of electromyography led the authors to consider the diagnosis despite negative family history. The authors highlight this rare disease in pediatric population and the importance of high index of clinical suspicion for its diagnosis.

  10. Homologous DNA exchanges in humans can be explained by the yeast double-strand break repair model: a study of 17p11.2 rearrangements associated with CMT1A and HNPP.

    PubMed

    Lopes, J; Tardieu, S; Silander, K; Blair, I; Vandenberghe, A; Palau, F; Ruberg, M; Brice, A; LeGuern, E

    1999-11-01

    Rearrangements in 17p11.2, responsible for the 1.5 Mb duplications and deletions associated, respectively, with autosomal dominant Charcot-Marie-Tooth type 1A disease (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) are a suitable model for studying human recombination. Rearrangements in 17p11.2 are caused by unequal crossing-over between two homologous 24 kb sequences, the CMT1A-REPs, that flank the disease locus and occur in most cases within a 1.7 kb hotspot. We sequenced this hotspot in 28 de novo patients (25 CMT1A and three HNPP), in order to localize precisely, at the DNA sequence level, the crossing-overs. We show that some chimeric CMT1A-REPs in de novo patients (10/28) present conversion of DNA segments associated with the crossing-over. These rearrangements can be explained by the double-strand break (DSB) repair model described in yeast. Fine mapping of the de novo rearrangements provided evidence that the successive steps of this model, heteroduplex DNA formation, mismatch correction and gene conversion, occurred in patients. Furthermore, the model explains 17p11.2 recombinations between chromosome homologues as well as between sister chromatids. In addition, defective mismatch repair of the heteroduplex DNA, observed in two patients, resulted in two heterozygous chimeric CMT1A-REPs which can be explained, as in yeast, by post-meiotic segregation. This work supports the hypothesis that the DSB repair model of DNA exchange may apply universally from yeasts to humans.

  11. The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes.

    PubMed

    Inoue, K; Dewar, K; Katsanis, N; Reiter, L T; Lander, E S; Devon, K L; Wyman, D W; Lupski, J R; Birren, B

    2001-06-01

    Duplication and deletion of the 1.4-Mb region in 17p12 that is delimited by two 24-kb low copy number repeats (CMT1A-REPs) represent frequent genomic rearrangements resulting in two common inherited peripheral neuropathies, Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsy (HNPP). CMT1A and HNPP exemplify a paradigm for genomic disorders wherein unique genome architectural features result in susceptibility to DNA rearrangements that cause disease. A gene within the 1.4-Mb region, PMP22, is responsible for these disorders through a gene-dosage effect in the heterozygous duplication or deletion. However, the genomic structure of the 1.4-Mb region, including other genes contained within the rearranged genomic segment, remains essentially uncharacterized. To delineate genomic structural features, investigate higher-order genomic architecture, and identify genes in this region, we constructed PAC and BAC contigs and determined the complete nucleotide sequence. This CMT1A/HNPP genomic segment contains 1,421,129 bp of DNA. A low copy number repeat (LCR) was identified, with one copy inside and two copies outside of the 1.4-Mb region. Comparison between physical and genetic maps revealed a striking difference in recombination rates between the sexes with a lower recombination frequency in males (0.67 cM/Mb) versus females (5.5 cM/Mb). Hypothetically, this low recombination frequency in males may enable a chromosomal misalignment at proximal and distal CMT1A-REPs and promote unequal crossing over, which occurs 10 times more frequently in male meiosis. In addition to three previously described genes, five new genes (TEKT3, HS3ST3B1, NPD008/CGI-148, CDRT1, and CDRT15) and 13 predicted genes were identified. Most of these predicted genes are expressed only in embryonic stages. Analyses of the genomic region adjacent to proximal CMT1A-REP indicated an evolutionary mechanism for the formation of proximal CMT1A-REP and the

  12. Changes of Plantar Pressure and Gait Parameters in Children with Mild Cerebral Palsy Who Used a Customized External Strap Orthosis: A Crossover Study.

    PubMed

    Chang, Wen-Dien; Chang, Nai-Jen; Lin, Hung-Yu; Lai, Ping-Tung

    2015-01-01

    Toe-in gait and crouch gait can make children with mild cerebral palsy fall and suffer improper balance during walking or ambulation training. A customized external strap orthosis for correcting leg alignment was used to resolve this problem. The purpose of this study was to research the immediate effects while wearing the customized external strap orthosis. Pressure platform was used to assess the plantar pressure through static and dynamic assessments and to record the changes in path of pressure trajectory. Motion image analysis system was used to record the gait parameters, which included gait speed, stride length, and cadence. The influence of both wearing and removing the orthosis on the dominant leg of children with mild cerebral palsy was analyzed. Nine children with mild cerebral palsy, who all had a dominant right leg, were recruited. After wearing the orthosis, all gait parameters improved, and foot motion changed in the stance phase of the gait cycle. The path of pressure trajectory closing to the midline was also observed during dynamic assessment. Changes in plantar pressure and path of pressure trajectory were observed and the orthosis device could provide immediate assistance to correct the leg alignment and improve the gait performance in children with mild cerebral palsy.

  13. Changes of Plantar Pressure and Gait Parameters in Children with Mild Cerebral Palsy Who Used a Customized External Strap Orthosis: A Crossover Study

    PubMed Central

    Chang, Wen-Dien; Chang, Nai-Jen; Lin, Hung-Yu; Lai, Ping-Tung

    2015-01-01

    Toe-in gait and crouch gait can make children with mild cerebral palsy fall and suffer improper balance during walking or ambulation training. A customized external strap orthosis for correcting leg alignment was used to resolve this problem. The purpose of this study was to research the immediate effects while wearing the customized external strap orthosis. Pressure platform was used to assess the plantar pressure through static and dynamic assessments and to record the changes in path of pressure trajectory. Motion image analysis system was used to record the gait parameters, which included gait speed, stride length, and cadence. The influence of both wearing and removing the orthosis on the dominant leg of children with mild cerebral palsy was analyzed. Nine children with mild cerebral palsy, who all had a dominant right leg, were recruited. After wearing the orthosis, all gait parameters improved, and foot motion changed in the stance phase of the gait cycle. The path of pressure trajectory closing to the midline was also observed during dynamic assessment. Changes in plantar pressure and path of pressure trajectory were observed and the orthosis device could provide immediate assistance to correct the leg alignment and improve the gait performance in children with mild cerebral palsy. PMID:26640796

  14. Bell's Palsy

    MedlinePlus

    Bell's palsy is the most common cause of facial paralysis. It usually affects just one side of the ... become inflamed. You are most likely to get Bell's palsy if you are pregnant, diabetic or sick with ...

  15. Cerebral Palsy

    MedlinePlus

    Cerebral palsy is a group of disorders that affect a person's ability to move and to maintain balance ... do not get worse over time. People with cerebral palsy may have difficulty walking. They may also have ...

  16. [Regional anaesthesia for labor adn delivery in a parturient with neuropathy with liability to pressure palsy (tomaculous neuropathy)].

    PubMed

    Berdai, S; Benhamou, D

    2004-10-01

    Tomaculous neuropathy (or hereditary neuropathy with liability to pressure palsy [HNLPP]) is a rare and hereditary disease which incidence has probably been underestimated. It is characterised by demyelination resulting in numbness and weakness after nerve pressure, injury or stretch. Despite a well-documented genetic pathophysiologic mechanism, implications for anaesthesia in patients with HNLPP are only speculative and the use of regional anaesthesia is debatable. We report here the case of a patient with HNLPP who was followed during two consecutive pregnancies in the same hospital and for whom an expert of the SOS-RA hotline service was consulted before each delivery. For the first delivery, epidural analgesia was performed for labour pain control but a caesarean section was necessary because of failure to progress (0.0625% bupivacaine with 0.2 microg/ml sufentanil for labour then 2% lidocaine with adrenaline for surgery). Two years later, the patient was again seen for a preanaesthetic visit because elective Caesarean section was planned. Spinal anaesthesia using hyperbaric bupivacaine and sufentanil was used. Both deliveries were uneventful and there were no neurologic complaints in the postpartum periods.

  17. [Facial palsy].

    PubMed

    Cavoy, R

    2013-09-01

    Facial palsy is a daily challenge for the clinicians. Determining whether facial nerve palsy is peripheral or central is a key step in the diagnosis. Central nervous lesions can give facial palsy which may be easily differentiated from peripheral palsy. The next question is the peripheral facial paralysis idiopathic or symptomatic. A good knowledge of anatomy of facial nerve is helpful. A structure approach is given to identify additional features that distinguish symptomatic facial palsy from idiopathic one. The main cause of peripheral facial palsies is idiopathic one, or Bell's palsy, which remains a diagnosis of exclusion. The most common cause of symptomatic peripheral facial palsy is Ramsay-Hunt syndrome. Early identification of symptomatic facial palsy is important because of often worst outcome and different management. The prognosis of Bell's palsy is on the whole favorable and is improved with a prompt tapering course of prednisone. In Ramsay-Hunt syndrome, an antiviral therapy is added along with prednisone. We also discussed of current treatment recommendations. We will review short and long term complications of peripheral facial palsy.

  18. Transgenic mouse models of CMT1A and HNPP.

    PubMed

    Suter, U; Nave, K A

    1999-09-14

    We have generated several PMP22 animal mutants with altered PMP22 gene dosage. A moderate increase in the number of PMP22 genes led to hypomyelination comparable to CMT1A, whereas high copy numbers of transgenic PMP22 resulted in phenotypes resembling more severe forms of hereditary motor and sensory neuropathies. In contrast, eliminating one of the two normal PMP22 genes by gene targeting caused unstable focal hypermyelination (tomacula) similar to the pathology in HNPP. A related but more severe phenotype was observed in mice that lack PMP22 completely. Detailed analysis of the different PMP22 mutants revealed, in addition to the obvious myelinopathy, distal axonopathy as a characteristic feature. We conclude that the maintenance of axons might be a promising target for therapeutic interventions in these demyelinating hereditary neuropathies. Furthermore, our results strongly support the concept that PMP22-related neuropathies (and most likely also other forms of inherited motor and sensory neuropathies) should be viewed as the consequence of impaired neuron-Schwann cell interactions that are likely already to be operative during development. Such considerations should be taken into account in the design of potential novel treatment strategies.

  19. Molecular mechanisms for CMT1A duplication and HNPP deletion.

    PubMed

    Boerkoel, C F; Inoue, K; Reiter, L T; Warner, L E; Lupski, J R

    1999-09-14

    As the best characterized human genomic disorders, CMT1A and HNPP illustrate several common mechanistic features of genomic rearrangements. These features include the following: (1) Recombination occurs between homologous sequences flanking the duplicated/deleted genomic segment. (2) The evolution of the mammalian genome may result in an architecture consisting of region-specific low-copy repeats that predispose to rearrangement secondary to providing homologous regions as substrate for recombination. (3) Strand exchange occurs preferentially in a region of perfect sequence identity within the flanking repeat sequences. (4) Double-strand breaks likely initiate recombination between the flanking repeats. (5) The mechanism and rate of homologous recombination resulting in DNA rearrangement may differ for male and female gametogenesis. (6) Homologous recombination resulting in DNA rearrangement occurs with high frequency in the human genome. (7) Genomic disorders result from structural features of the human genome and not population specific alleles or founder effects; therefore, genomic disorders appear to occur with equal frequencies in different world populations.

  20. Bilateral abducens and facial nerve palsies as a localizing sign due to reduction in intracranial pressure after fourth ventriculoperitoneal shunting

    PubMed Central

    Maramattom, Boby Varkey; Panikar, Dilip

    2016-01-01

    A trapped fourth ventricle often requires fourth ventriculoperitoneal shunting (4VP). Complications of this procedure include shunt blockage, infection, shunt migration, and overdrainage. Cranial nerve palsies are very rare after 4VP shunting and have been described with over drainage and brainstem distortion. We present an unusual case of bilateral abducens and facial nerve palsies after 4VP shunting after normalization of 4th ventricular parameters. Measurement of various brainstem angles presented us with a plausible hypothesis to explain the cranial nerve dysfunction. PMID:27994363

  1. Bell's Palsy (For Kids)

    MedlinePlus

    ... de los dientes Video: Getting an X-ray Bell's Palsy KidsHealth > For Kids > Bell's Palsy Print A A ... usually goes away on its own. What Is Bell's Palsy? Bell's palsy weakens or paralyzes the muscles on ...

  2. Cerebral Palsy (For Parents)

    MedlinePlus

    ... Old Feeding Your 1- to 2-Year-Old Cerebral Palsy KidsHealth > For Parents > Cerebral Palsy A A A ... kids who are living with the condition. About Cerebral Palsy Cerebral palsy is one of the most common ...

  3. Cerebral palsy - resources

    MedlinePlus

    Resources - cerebral palsy ... The following organizations are good resources for information on cerebral palsy : National Institute of Neurological Disorders and Stroke -- www.ninds.nih.gov/disorders/cerebral_palsy/cerebral_palsy. ...

  4. Four novel point mutations in the PMP22 gene with phenotypes of HNPP and Dejerine-Sottas neuropathy.

    PubMed

    Brožková, Dana; Mazanec, Radim; Rychlý, Zdeněk; Haberlová, Jana; Böhm, Jiří; Staněk, Jan; Plevová, Pavlína; Lisoňová, Jana; Sabová, Jana; Sakmaryová, Iva; Seeman, Pavel

    2011-11-01

    We report four novel point mutations in the PMP22 gene with two different phenotypes: mutation p.Ser79Thr arose de novo in a patient with the Dejerine-Sottas neuropathy (DSN) phenotype; and mutations c.78+5 G>A, c.320-1 G>C, and p.Trp140Stop segregated with HNPP in 5 families.Our findings show that point mutations in PMP22 may be more likely in HNPP patients than in CMT1 patients after exclusion of CMT1A/HNPP.

  5. Bell's Palsy.

    PubMed

    Vakharia, Kavita; Vakharia, Kalpesh

    2016-02-01

    Bell's palsy is unilateral, acute onset facial paralysis that is a common condition. One in every 65 people experiences Bell's palsy in the course of their lifetime. The majority of patients afflicted with this idiopathic disorder recover facial function. Initial treatment involves oral corticosteroids, possible antiviral drugs, and protection of the eye from desiccation. A small subset of patients may be left with incomplete recovery, synkinesis, facial contracture, or hemifacial spasm. A combination of medical and surgical treatment options exist to treat the long-term sequelae of Bell's palsy.

  6. Bell's Palsy

    MedlinePlus

    ... Bell's palsy, some people with the condition may benefit from the following: Relaxation techniques. Relaxing by using techniques such as meditation and yoga may relieve muscle tension and chronic pain. Acupuncture. ...

  7. Bell's palsy

    MedlinePlus

    ... Brackmann DE, Shelton CS, Arriaga MA, eds. Otologic Surgery . 4th ed. Philadelphia, PA: Elsevier; 2016:chap 27. Gronseth GS, Paduga R; American Academy of Neurology. Evidence-based guideline update: steroids and antivirals for Bell palsy: ...

  8. Bell's Palsy

    MedlinePlus

    ... conditions that cause injuries and damage to nerves. Knowledge gained from this research may help scientists find the definitive cause of Bell's palsy, leading to the discovery of new effective treatments for the disorder. Other ...

  9. Cerebral palsy.

    PubMed

    Colver, Allan; Fairhurst, Charles; Pharoah, Peter O D

    2014-04-05

    The syndrome of cerebral palsy encompasses a large group of childhood movement and posture disorders. Severity, patterns of motor involvement, and associated impairments such as those of communication, intellectual ability, and epilepsy vary widely. Overall prevalence has remained stable in the past 40 years at 2-3·5 cases per 1000 livebirths, despite changes in antenatal and perinatal care. The few studies available from developing countries suggest prevalence of comparable magnitude. Cerebral palsy is a lifelong disorder; approaches to intervention, whether at an individual or environmental level, should recognise that quality of life and social participation throughout life are what individuals with cerebral palsy seek, not improved physical function for its own sake. In the past few years, the cerebral palsy community has learned that the evidence of benefit for the numerous drugs, surgery, and therapies used over previous decades is weak. Improved understanding of the role of multiple gestation in pathogenesis, of gene environment interaction, and how to influence brain plasticity could yield significant advances in treatment of the disorder. Reduction in the prevalence of post-neonatal cerebral palsy, especially in developing countries, should be possible through improved nutrition, infection control, and accident prevention.

  10. A Holter-type microprocessor-based rehabilitation instrument for acquisition and storage of plantar pressure data in children with cerebral palsy.

    PubMed

    Abu-Faraj, Z O; Harris, G F; Abler, J H; Wertsch, J J; Smith, P A

    1996-03-01

    A multichannel, portable data acquisition system has been developed to measure discrete plantar pressures in the rehabilitation of children who have cerebral palsy and planovalgus foot deformity. The microprocessor-based system is designed to be lightweight (350 g with batteries) and portable (no umbilicus) in order to minimize encumbrances to gait patterns. It provides an improved method for obtaining accurate and reliable data during extended recording and rehabilitative periods that is not available from commercial systems. Twelve conductive polymer force (pressure) sensors are used to acquire pressure data, which are then stored in the system memory. Plantar pressures are sampled at a rate of 40 Hz from each of the 12 sensors for up to 2 h. The system consists of 16 analog amplifiers, a 12 b sampling analog-to-digital converter, an 8 b Dallas semiconductor microprocessor (DS5001FP-16, Dallas, TX), 4 MB of pseudo static RAM, and serial and parallel I/O interfaces. The interfaces are used to upload data into a PC for further processing, analysis, and display. During subject testing, sensors are located at predetermined anatomic areas under the calcaneus, medial and lateral midfoot, medial and lateral metatarsal heads, and hallux. Foot pressure data has been acquired from two pediatric subjects during multiple walking trials to illustrate system application in the normal and planovalgus foot. The system is considered to be appropriate for further clinical application and for characterization of event related alterations including rehabilitative, therapeutic, surgical, and nonsurgical treatment.

  11. Botulinum Toxin Type A Injection for Spastic Equinovarus Foot in Children with Spastic Cerebral Palsy: Effects on Gait and Foot Pressure Distribution

    PubMed Central

    Choi, Ja Young; Jung, Soojin; Rha, Dong-wook

    2016-01-01

    Purpose To investigate the effect of intramuscular Botulinum toxin type A (BoNT-A) injection on gait and dynamic foot pressure distribution in children with spastic cerebral palsy (CP) with dynamic equinovarus foot. Materials and Methods Twenty-five legs of 25 children with CP were investigated in this study. BoNT-A was injected into the gastrocnemius (GCM) and tibialis posterior (TP) muscles under the guidance of ultrasonography. The effects of the toxin were clinically assessed using the modified Ashworth scale (MAS) and modified Tardieu scale (MTS), and a computerized gait analysis and dynamic foot pressure measurements using the F-scan system were also performed before injection and at 1 and 4 months after injection. Results Spasticity of the ankle plantar-flexor in both the MAS and MTS was significantly reduced at both 1 and 4 months after injection. On dynamic foot pressure measurements, the center of pressure index and coronal index, which represent the asymmetrical weight-bearing of the medial and lateral columns of the foot, significantly improved at both 1 and 4 months after injection. The dynamic foot pressure index, total contact area, contact length and hind foot contact width all increased at 1 month after injection, suggesting better heel contact. Ankle kinematic data were significantly improved at both 1 and 4 months after injection, and ankle power generation was significantly increased at 4 months after injection compared to baseline data. Conclusion Using a computerized gait analysis and foot scan, this study revealed significant benefits of BoNT-A injection into the GCM and TP muscles for dynamic equinovarus foot in children with spastic CP. PMID:26847306

  12. Bell's Palsy (For Teens)

    MedlinePlus

    ... Loss Surgery? A Week of Healthy Breakfasts Shyness Bell's Palsy KidsHealth > For Teens > Bell's Palsy Print A A ... Yourself en español Parálisis de Bell What Is Bell's Palsy? Bell's palsy is a temporary weakness or paralysis ...

  13. Abducens Nerve Palsy in Pregnancy: A Case Report

    PubMed Central

    Yousefi, Sayedeh Reyhaneh

    2016-01-01

    Headache, blurring of vision and confusion are neurologic symptoms of preeclampsia. Whereas abducens nerve palsy during pregnancy is an extremely rare condition, we report here a 40-year-old patient with diplopia, blurring of vision and abducens nerve palsy in the 39th week of pregnancy with history of hypertension (HTN). No specific pathology was found. Symptoms of abducens nerve palsy were resolved spontaneously by controlling blood pressure after delivery. PMID:28208948

  14. Cerebral Palsy (For Parents)

    MedlinePlus

    ... palsy — causes a problem with balance and depth perception Since cerebral palsy affects muscle control and coordination, ... fluid into the lungs) gastroesophageal reflux (spitting up) speech problems drooling tooth decay sleep disorders osteoporosis (weak, ...

  15. Bell's Palsy (For Teens)

    MedlinePlus

    ... or the flu . Someone who is infected with Lyme disease also can develop Bell's palsy. Of course, this ... that everyone who has a viral infection or Lyme disease will get Bell's palsy — most people don't. ...

  16. Cerebral Palsy (For Kids)

    MedlinePlus

    ... de los dientes Video: Getting an X-ray Cerebral Palsy KidsHealth > For Kids > Cerebral Palsy Print A A ... the things that kids do every day. What's CP? Some kids with CP use wheelchairs and others ...

  17. Cerebral Palsy (For Kids)

    MedlinePlus

    ... Emergency Room? What Happens in the Operating Room? Cerebral Palsy KidsHealth > For Kids > Cerebral Palsy A A A ... the things that kids do every day. What's CP? Some kids with CP use wheelchairs and others ...

  18. Aging and Cerebral Palsy.

    ERIC Educational Resources Information Center

    Networker, 1993

    1993-01-01

    This special edition of "The Networker" contains several articles focusing on aging and cerebral palsy (CP). "Aging and Cerebral Palsy: Pathways to Successful Aging" (Jenny C. Overeynder) reports on the National Invitational Colloquium on Aging and Cerebral Palsy held in April 1993. "Observations from an Observer" (Kathleen K. Barrett) describes…

  19. Effect of atmospheric factors on the incidence of Bell's palsy.

    PubMed

    de, Diego J I; Prim, M P; Madero, R; Marcos, S; Gavilan, J

    2002-01-01

    To assess the possible influence of atmospheric factors on the incidence of Bell's palsy, a retrospective case review of patients seen between 1 January 1992 and 30 June 1996, was designed. The population included all Bell's palsy patients in whom the exact date of onset of paralysis (day, month, year) was known. The following parameters were registered daily by the Spanish National Service of Meteorology throughout the period of survey: temperature, atmospheric pressure and air pollutants (total number of particles and levels of SO2, CO, O3, NO2, NO, CH4 and total organic carbon). The only factor significantly related to Bell's palsy was temperature (P = 0.0164). Lower temperatures were associated with a higher incidence of Bell's palsy. A relationship between atmospheric pressure and/or air pollutants and Bell's palsy was not found.

  20. Sixth Nerve Palsy in Paediatric Intracranial Hypertension

    PubMed Central

    Reid, Julia E.; Reem, Rachel E.; Aylward, Shawn C.; Rogers, David L.

    2016-01-01

    ABSTRACT The purpose of this study was to report the incidence and describe the characteristics of sixth cranial nerve (CN VI) palsy in paediatric patients with intracranial hypertension (IH). A retrospective chart review of central Ohio children diagnosed with IH over the 3-year period from 2010 to 2013 was conducted. IH without identifiable cause was defined as idiopathic intracranial hypertension (IIH), whereas IH with identifiable pathologic aetiology was deemed secondary intracranial hypertension (SIH). A subset of patients with CN VI palsy was identified. Data collected included patient age, gender, past medical history, aetiology of SIH, ophthalmic examination, lumbar puncture results, neuroimaging results, and response to treatment. Seventy-eight children with intracranial hypertension were included in the study. Nine (11.5%) children (four males, five females; median age 14, range: 3–18) were found to have a unilateral (n = 2) or bilateral (n = 7) CN VI palsy. Five children had IIH; the remaining four had SIH from cerebral venous sinus thrombosis (n = 2) and infection (n = 2). The mean lumbar puncture opening pressure for the nine patients with CN VI palsy was 40 cm H2O (range: 21–65 cm H2O). Papilloedema was present in 8/9 (89%) patients. One patient required a lumboperitoneal shunt, and two others required optic nerve sheath fenestrations in addition to medical management. All cases of CN VI palsy resolved with treatment. In our primary service area, the incidence of CN VI palsy is approximately 12% among paediatric IH patients. The majority of cases with CN VI palsy presented with papilloedema and all cases resolved with treatment of intracranial hypertension. PMID:27928378

  1. Cerebral Palsy (CP) Quiz

    MedlinePlus

    ... Submit Button Past Emails CDC Features Pop Quiz: Cerebral Palsy Language: English Español (Spanish) Recommend on Facebook Tweet ... Sandy is the parent of a child with cerebral palsy and the Board President of Gio’s Garden , a ...

  2. Facial nerve palsy due to birth trauma

    MedlinePlus

    Seventh cranial nerve palsy due to birth trauma; Facial palsy - birth trauma; Facial palsy - neonate; Facial palsy - infant ... infant's facial nerve is also called the seventh cranial nerve. It can be damaged just before or at ...

  3. Progressive Supranuclear Palsy

    MedlinePlus

    Progressive supranuclear palsy (PSP) is a rare brain disease. It affects brain cells that control the movement of your eyes. This leads to ... speech, vision and swallowing problems. Doctors sometimes confuse PSP with Parkinson's disease or Alzheimer's disease. PSP has ...

  4. Nanomedicine in cerebral palsy.

    PubMed

    Balakrishnan, Bindu; Nance, Elizabeth; Johnston, Michael V; Kannan, Rangaramanujam; Kannan, Sujatha

    2013-01-01

    Cerebral palsy is a chronic childhood disorder that can have diverse etiologies. Injury to the developing brain that occurs either in utero or soon after birth can result in the motor, sensory, and cognitive deficits seen in cerebral palsy. Although the etiologies for cerebral palsy are variable, neuroinflammation plays a key role in the pathophysiology of the brain injury irrespective of the etiology. Currently, there is no effective cure for cerebral palsy. Nanomedicine offers a new frontier in the development of therapies for prevention and treatment of brain injury resulting in cerebral palsy. Nanomaterials such as dendrimers provide opportunities for the targeted delivery of multiple drugs that can mitigate several pathways involved in injury and can be delivered specifically to the cells that are responsible for neuroinflammation and injury. These materials also offer the opportunity to deliver agents that would promote repair and regeneration in the brain, resulting not only in attenuation of injury, but also enabling normal growth. In this review, the current advances in nanotechnology for treatment of brain injury are discussed with specific relevance to cerebral palsy. Future directions that would facilitate clinical translation in neonates and children are also addressed.

  5. Fate of Schwann cells in CMT1A and HNPP: evidence for apoptosis.

    PubMed

    Erdem, S; Mendell, J R; Sahenk, Z

    1998-06-01

    The fate of Schwann cells in Charcot-Marie-Tooth (CMT) neuropathies was addressed in this study of nerve biopsies from patients with proven PMP22 duplications and deletions. In frozen sections, apoptotic nuclei were detected using the TUNEL method. In adjacent sections, anti-neurofilament 68kD antibody was used as an axonal marker, while the antibodies to NKH-1 and low-affinity nerve growth factor receptor P75NTR were used as Schwann cell markers. In addition, plastic sections were used to determine the densities of myelinated fibers and Schwann cell nuclei. In all biopsies from CMT1A, TUNEL-positive nuclei appeared in clusters. In adjacent sections, areas of TUNEL-positive nuclei matched with areas devoid of neurofilaments and NKH-1-positive Schwann cell silhouettes, suggesting that the apoptotic nuclei belonged to nonmyelinating Schwann cells. In addition, quantitative studies on plastic-embedded sections showed a significantly reduced number of total Schwann cells compared with controls, strongly favoring a loss of Schwann cell by apoptosis. In HNPP, the number of total Schwann cells was increased and a significant Schwann cell apoptosis was observed in only 2 patients. Examination of plastic sections and teased nerve preparations from these cases suggested that the Schwann cell apoptosis might be related to the regenerative state of the nerve resulting from the process of sprout pruning. No strict correlation between p75NTR expression and apoptosis was found. These studies indicate that factors regulating Schwann cell number in early postnatal development continue to be important for Schwann cell survival throughout life.

  6. Application of whole-exome sequencing for detecting copy number variants in CMT1A/HNPP.

    PubMed

    Jo, H-Y; Park, M-H; Woo, H-M; Han, M H; Kim, B-Y; Choi, B-O; Chung, K W; Koo, S K

    2016-08-01

    Large insertions and deletions (indels), including copy number variations (CNVs), are commonly seen in many diseases. Standard approaches for indel detection rely on well-established methods such as qPCR or short tandem repeat (STR) markers. Recently, a number of tools for CNV detection based on next-generation sequencing (NGS) data have also been developed; however, use of these methods is limited. Here, we used whole-exome sequencing (WES) in patients previously diagnosed with CMT1A or HNPP using STR markers to evaluate the ability of WES to improve the clinical diagnosis. Patients were evaluated utilizing three CNV detection tools including CONIFER, ExomeCNV and CEQer, and array comparative genomic hybridization (aCGH). We identified a breakpoint region at 17p11.2-p12 in patients with CMT1A and HNPP. CNV detection levels were similar in both 6 Gb (mean read depth = 80×) and 17 Gb (mean read depth = 190×) data. Taken together, these data suggest that 6 Gb WES data are sufficient to reveal the genetic causes of various diseases and can be used to estimate single mutations, indels, and CNVs simultaneously. Furthermore, our data strongly indicate that CNV detection by NGS is a rapid and cost-effective method for clinical diagnosis of genetically heterogeneous disorders such as CMT neuropathy.

  7. Bell's palsy with ipsilateral numbness.

    PubMed

    Vanopdenbosch, L J; Verhoeven, K; Casselman, J W

    2005-07-01

    Bell's palsy is an idiopathic facial palsy of the peripheral type. A herpes virus is the most likely mechanism. We report a patient with the often encountered combination of a facial palsy with ipsilateral sensory changes. Magnetic resonance imaging showed had contrast enhancement in the greater petrosal nerve. Viral spread through anatomical connections could be an explanation for the association of facial palsy with numbness.

  8. Recurrent Bell's palsy in pregnancy.

    PubMed

    Deshpande, A D

    1990-09-01

    A case of recurrent Bell's palsy occurring in two successive pregnancies in a 37-year-old woman is presented. The causes of facial nerve paralysis of the lower motor neurone type are discussed. The rate of recurrence of Bell's palsy during pregnancy is unknown. Treatment with corticosteroids of Bell's palsy during pregnancy poses the threat of possible side effects on the fetus.

  9. Bell's palsy and herpesviruses.

    PubMed

    Gilbert, Stan C

    2002-12-01

    A growing body of evidence links reactivation of herpesviruses (primarily varicella zoster virus and herpes simplex virus type 1) with the development of a large proportion of cases of acute peripheral facial palsy, a syndrome commonly known by its eponym, Bell's palsy. This article reviews the definition and natural history of the disease, its underlying anatomy and pathophysiology, the data linking herpetic reactivation with development of signs and symptoms, and therapeutic trials utilizing antiviral therapy. In addition, it poses the question, would earlier intervention with antivirals make a larger impact on outcomes?

  10. United Cerebral Palsy

    MedlinePlus

    ... be sure to follow us on Twitter ! Affiliate Network UCP affiliates provide services and support on a community-by-community basis, serving the unique needs of people with disabilities in their region. Find your ... and their networks. Individuals with cerebral palsy and other disabilities deserve ...

  11. Cerebral Palsy (For Teens)

    MedlinePlus

    ... brain is affected and which parts of the body that section of the brain controls. If CP affects both arms and both legs, ... the case of spastic CP) or to help control seizures. And some might have special surgeries to keep their arms or legs straighter and more ... Coping With Cerebral Palsy Puberty can ...

  12. Obstetrical brachial plexus palsy.

    PubMed

    Romaña, M C; Rogier, A

    2013-01-01

    Obstetrical brachial plexus palsy is considered to be the result of a trauma during the delivery, even if there remains some controversy surrounding the causes. Although most babies recover spontaneously in the first 3 months of life, a small number remains with poor recovery which requires surgical brachial plexus exploration. Surgical indications depend on the type of lesion (producing total or partial palsy) and particularly the nonrecovery of biceps function by the age of 3 months. In a global palsy, microsurgery will be mandatory and the strategy for restoration will focus first on hand reinnervation and secondarily on providing elbow flexion and shoulder stability. Further procedures may be necessary during growth in order to avoid fixed contractured deformities or to give or increase strength of important muscle functions like elbow flexion or wrist extension. The author reviews the history of obstetrical brachial plexus injury, epidemiology, and the specifics of descriptive and functional anatomy in babies and children. Clinical manifestations at birth are directly correlated with the anatomical lesion. Finally, operative procedures are considered, including strategies of reconstruction with nerve grafting in infants and secondary surgery to increase functional capacity at later ages. However, normal function is usually not recovered, particularly in total brachial plexus palsy.

  13. Cerebral Palsy Litigation

    PubMed Central

    Sartwelle, Thomas P.

    2015-01-01

    The cardinal driver of cerebral palsy litigation is electronic fetal monitoring, which has continued unabated for 40 years. Electronic fetal monitoring, however, is based on 19th-century childbirth myths, a virtually nonexistent scientific foundation, and has a false positive rate exceeding 99%. It has not affected the incidence of cerebral palsy. Electronic fetal monitoring has, however, increased the cesarian section rate, with the expected increase in mortality and morbidity risks to mothers and babies alike. This article explains why electronic fetal monitoring remains endorsed as efficacious in the worlds’ labor rooms and courtrooms despite being such a feeble medical modality. It also reviews the reasons professional organizations have failed to condemn the use of electronic fetal monitoring in courtrooms. The failures of tort reform, special cerebral palsy courts, and damage limits to stem the escalating litigation are discussed. Finally, the authors propose using a currently available evidence rule—the Daubert doctrine that excludes “junk science” from the courtroom—as the beginning of the end to cerebral palsy litigation and electronic fetal monitoring’s 40-year masquerade as science. PMID:25183322

  14. Progressive supranuclear palsy.

    PubMed

    Kent, Anna

    Progressive supranuclear palsy (PSP), or Steele-Richardson-Olszewski syndrome, is a rare, progressive neurodegenerative condition with cognitive and motor involvement. Diagnosis can be challenging as some people do not display the classic symptoms of the condition and there are no specific investigations to confirm diagnosis. Timely discussions and access to symptom management and palliative care services need to be provided from diagnosis throughout the disease trajectory to ensure holistic care of people with PSP.

  15. Cutaneous Sensibility Changes in Bell's Palsy Patients.

    PubMed

    Cárdenas Palacio, Carlos Andrés; Múnera Galarza, Francisco Alejandro

    2017-02-01

    Objective Bell's palsy is a cranial nerve VII dysfunction that renders the patient unable to control facial muscles from the affected side. Nevertheless, some patients have reported cutaneous changes in the paretic area. Therefore, cutaneous sensibility changes might be possible additional symptoms within the clinical presentation of this disorder. Accordingly, the aim of this research was to investigate the relationship between cutaneous sensibility and facial paralysis severity in these patients. Study Design Prospective longitudinal cohort study. Settings Tertiary care medical center. Subjects and Methods Twelve acute-onset Bell's palsy patients were enrolled from March to September 2009. In addition, 12 sex- and age-matched healthy volunteers were tested. Cutaneous sensibility was evaluated with pressure threshold and 2-point discrimination at 6 areas of the face. Facial paralysis severity was evaluated with the House-Brackmann scale. Results Statistically significant correlations based on the Spearman's test were found between facial paralysis severity and cutaneous sensitivity on forehead, eyelid, cheek, nose, and lip ( P < .05). Additionally, significant differences based on the Student's t test were observed between both sides of the face in 2-point discrimination on eyelid, cheek, and lip ( P < .05) in Bell's palsy patients but not in healthy subjects. Conclusion Such results suggest a possible relationship between the loss of motor control of the face and changes in facial sensory information processing. Such findings are worth further research about the neurophysiologic changes associated with the cutaneous sensibility disturbances of these patients.

  16. The Effect of Treatment of Obstructive Sleep Apnea on Quality of Life in Children with Cerebral Palsy

    ERIC Educational Resources Information Center

    Hsiao, Kai Hsun; Nixon, Gillian M.

    2008-01-01

    Benefits of treatment for obstructive sleep apnea (OSA) in children with cerebral palsy could differ from those in otherwise healthy children. We examined the effects of OSA treatment by comparing a group of children with cerebral palsy treated with adenotonsillectomy or continuous positive airway pressure (CPAP) by nasal mask with controls who…

  17. Palsies of Cranial Nerves That Control Eye Movement

    MedlinePlus

    ... Medical News Palsies of Cranial Nerves That Control Eye Movement By Michael Rubin, MDCM, Weill Cornell Medical College; ... Gaze Palsies Palsies of Cranial Nerves That Control Eye Movement Third Cranial Nerve (Oculomotor Nerve) Palsy Fourth Cranial ...

  18. Cranial nerve palsies in childhood

    PubMed Central

    Lyons, C J; Godoy, F; ALQahtani, E

    2015-01-01

    We review ocular motor cranial nerve palsies in childhood and highlight many of the features that differentiate these from their occurrence in adulthood. The clinical characteristics of cranial nerve palsies in childhood are affected by the child's impressive ability to repair and regenerate after injury. Thus, aberrant regeneration is very common after congenital III palsy; Duane syndrome, the result of early repair after congenital VI palsy, is invariably associated with retraction of the globe in adduction related to the innervation of the lateral rectus by the III nerve causing co-contraction in adduction. Clinical features that may be of concern in adulthood may not be relevant in childhood; whereas the presence of mydriasis in III palsy suggests a compressive aetiology in adults, this is not the case in children. However, the frequency of associated CNS abnormalities in III palsy and the risk of tumour in VI palsy can be indications for early neuroimaging depending on presenting features elicited through a careful history and clinical examination. The latter should include the neighbouring cranial nerves. We discuss the impact of our evolving knowledge of congenital cranial dysinnervation syndromes on this field. PMID:25572578

  19. Japanese neuropathy patients with peripheral myelin protein-22 gene aneuploidy

    SciTech Connect

    Lebo, R.V.; Li, L.Y.; Flandermeyer, R.R.

    1994-09-01

    Peripheral myelin protein (PMP-22) gene aneuploidy results in Charcot-Marie-Tooth disease Type 1A (CMT1A) and the Hereditary Neuropathy with Liability to Pressure Palsy (HNPP) in Japanese patients as well as Caucasian Americans. Charcot-Marie-Tooth disease (CMT), the most common genetic neuropathy, results when expression of one of at least seven genes is defective. CMT1A, about half of all CMT mutations, is usually associated with a duplication spanning the peripheral myelin protein-22 gene on distal chromosome band 17p11.2. Autosomal dominant HNPP (hereditary pressure and sensory neuropathy, HPSN) results from a deletion of the CMT1A gene region. Multicolor in situ hybridization with PMP-22 gene region probe characterized HNPP deletion reliably and detected all different size duplications reported previously. In summary, 72% of 28 Japanese CMT1 (HMSNI) patients tested had the CMT1A duplication, while none of the CMT2 (HMSNII) or CMT3 (HMSNIII) patients had a duplication. Three cases of HNPP were identified by deletion of the CMT1A gene region on chromosome 17p. HNPP and CMT1A have been reported to result simultaneously from the same unequal recombination event. The lower frequency of HNPP compared to CMT1A suggests that HNPP patients have a lower reproductive fitness than CMT1A patients. This result, along with a CMT1A duplication found in an Asian Indian family, demonstrates the broad geographic distribution and high frequency of PMP-22 gene aneuploidy.

  20. Progressive supranuclear palsy.

    PubMed

    Golbe, Lawrence I

    2014-04-01

    Progressive supranuclear palsy is a disorder of tau protein aggregation. Its clinical spectrum is now known to be wider than originally described, with a phenotype resembling Parkinson disease accounting for a third of cases. However, at least half of the patients with PSP exhibit the classic bradykinesia with disproportionate postural instability, erect posture with nuchal rigidity, frontal behavioral and cognitive changes, vertical gaze palsy, and other disabling brainstem deficits. Nonmendelian genetic risk factors exist, but PSP is almost entirely sporadic, with a prevalence of five to six persons per 100,000, mean onset age of 63, and median survival of 7 years. Clinical diagnostic criteria with excellent specificity and a clinical rating scale sensitive to progression are available. Diagnosis remains clinical, although magnetic resonance imaging and cerebrospinal fluid measures are showing promise as early-stage screening tools. Multiple candidate neuroprotective medications have proven ineffective to date. Treatment remains supportive, although coenzyme Q-10 has shown preliminary symptomatic efficacy and levodopa may provide transient, modest benefit.

  1. Neurocysticercosis presenting as pseudobulbar palsy

    PubMed Central

    Kumar, Arinaganahalli Subbanna Praveen; Subrahmanyam, Dharanitragada Krishna Suri

    2014-01-01

    Neurocysticercosis (NCC) is the most common helminthic infestation of the central nervous system (CNS) and a leading cause of acquired epilepsy worldwide. The common manifestations of NCC are seizures and headache. The NCC as a cause of pseudobulbar palsy is very unusual and not reported yet in the literature. A pseudobulbar palsy can occur in any disorder that causes bilateral corticobulbar disease. The common etiologies of pseudobulbar palsy are vascular, demyelinative, or motor neuron disease. We report a 38-year-old female patient who presented with partial seizures and pseudobulbar palsy. The MRI brain showed multiple small cysts with scolex in both the cerebral hemispheres and a giant intraparenchymal cyst. Our patient responded well to standard treatment of neurocysticercosis and antiepileptics. PMID:24741260

  2. Neuroevolutional Approach to Cerebral Palsy and Speech.

    ERIC Educational Resources Information Center

    Mysak, Edward D.

    Intended for cerebral palsy specialists, the book emphasizes the contribution that a neuroevolutional approach to therapy can make to habilitation goals of the child with cerebral palsy and applies the basic principles of the Bobath approach to therapy. The first section discusses cerebral palsy as a reflection of disturbed neuro-ontogenisis and…

  3. Behaviour Problems Amongst Children With Cerebral Palsy.

    ERIC Educational Resources Information Center

    Oswin, Maureen

    Based on 6 years of work with cerebral palsied children, the thesis considers types and causes of cerebral palsy, the life pattern of the child with cerebral palsy from early years to adolescence, and the effect of the handicapped child on his parents and family. Literature on behavior disorders is reviewed, and kinds of behavior problems are…

  4. Abducens nerve palsy due to inferior petrosal sinus thrombosis.

    PubMed

    Mittal, Shivam Om; Siddiqui, Junaid; Katirji, Bashar

    2017-02-24

    Isolated unilateral abducens nerve palsy is usually due to ischemia, trauma or neoplasm. Dorello's canal is the space between the petrous apex and superolateral portion of the clivus, bound superiorly by Gruber's ligament. The abducens nerve travels with inferior petrosal sinus (IPS) though the Dorello's canal before entering the cavernous sinus. A 31-year-old man presented with neck pain, and binocular horizontal diplopia, worse looking towards left and at distance. He had a history of intravenous drug abuse but no history of hypertension or diabetes. On examination, he had complete left 6th nerve palsy with normal fundi, pupils, and other cranial nerves. Methicillin-resistant Staphylococcus aureus bacteremia was detected with naïve tricuspid valve endocarditis and multiple septic emboli to lungs with infarcts. His cerebrospinal fluid was normal. MRI of the brain was normal. MRV of head and neck showed thrombosis of the left internal jugular vein, left sigmoid sinus and left inferior petrosal sinus with normal cavernous sinus and no evidence of mastoiditis. He was treated with broad spectrum antibiotics. He was not anticoagulated for fear of pulmonary hemorrhage from pulmonary infarcts. Although cerebral venous sinus thrombosis commonly presents with elevated intracranial pressure, isolated ipsilateral 6th nerve palsy from its compression in Dorello's canal due to thrombosis of the ipsilateral inferior petrosal sinus is extremely rare. To our knowledge, only two patients have been reported with isolated abducens palsy due to IPS thrombosis; one caused by septic emboli and the other developed it during IPS cortisol level sampling.

  5. Bell's palsy: diagnosis and management.

    PubMed

    Tiemstra, Jeffrey D; Khatkhate, Nandini

    2007-10-01

    Bell's palsy is a peripheral palsy of the facial nerve that results in muscle weakness on one side of the face. Affected patients develop unilateral facial paralysis over one to three days with forehead involvement and no other neurologic abnormalities. Symptoms typically peak in the first week and then gradually resolve over three weeks to three months. Bell's palsy is more common in patients with diabetes, and although it can affect persons of any age, incidence peaks in the 40s. Bell's palsy has been traditionally defined as idiopathic; however, one possible etiology is infection with herpes simplex virus type 1. Laboratory evaluation, when indicated by history or risk factors, may include testing for diabetes mellitus and Lyme disease. A common short-term complication of Bell's palsy is incomplete eyelid closure with resultant dry eye. A less common long-term complication is permanent facial weakness with muscle contractures. Approximately 70 to 80 percent of patients will recover spontaneously; however, treatment with a seven-day course of acyclovir or valacyclovir and a tapering course of prednisone, initiated within three days of the onset of symptoms, is recommended to reduce the time to full recovery and increase the likelihood of complete recuperation.

  6. [Management of peripheral facial nerve palsy in children].

    PubMed

    Tabarki, B

    2014-10-01

    Peripheral facial nerve palsy may (secondary) or may not have a detectable cause (idiopathic facial palsy or Bell's palsy). Idiopathic facial palsy is the common form of facial palsy. It remains diagnosis by exclusion. The prognosis is more favourable in children than in adults. We present current diagnostic procedures and recommendations regarding treatment in children.

  7. Cerebral Palsy: A Dental Update

    PubMed Central

    Sehrawat, Nidhi; Bansal, Kalpana; Chopra, Radhika

    2014-01-01

    ABSTRACT Special and medically compromised patients present a unique population that challenges the dentist’s skill and knowledge. Providing oral care to people with cerebral palsy (CP) requires adaptation of the skills we use everyday. In fact, most people with mild or moderate forms of CP can be treated successfully in the general practice setting. This article is to review various dental considerations and management of a CP patient. How to cite this article: Sehrawat N, Marwaha M, Bansal K, Chopra R. Cerebral Palsy: A Dental Update. Int J Clin Pediatr Dent 2014;7(2):109-118. PMID:25356010

  8. Cerebral Palsy Checklist: Teens & Young Adult (13 to 21)

    MedlinePlus

    ... 2-Year-Old Cerebral Palsy Checklist: Teens & Young Adults KidsHealth > For Parents > Cerebral Palsy Checklist: Teens & Young ... plan healthy meals. continue Step 3: Explore Young-Adult Education Young adults with cerebral palsy are entitled ...

  9. Common questions about Bell palsy.

    PubMed

    Albers, Janet R; Tamang, Stephen

    2014-02-01

    Bell palsy is an acute affliction of the facial nerve, resulting in sudden paralysis or weakness of the muscles on one side of the face. Testing patients with unilateral facial paralysis for diabetes mellitus or Lyme disease is not routinely recommended. Patients with Lyme disease typically present with additional manifestations, such as arthritis, rash, or facial swelling. Diabetes may be a comorbidity of Bell palsy, but testing is not needed in the absence of other indications, such as hypertension. In patients with atypical symptoms, magnetic resonance imaging with contrast enhancement can be used to rule out cranial mass effect and to add prognostic value. Steroids improve resolution of symptoms in patients with Bell palsy and remain the preferred treatment. Antiviral agents have a limited role, and may improve outcomes when combined with steroids in patients with severe symptoms. When facial paralysis is prolonged, surgery may be indicated to prevent ocular desiccation secondary to incomplete eyelid closure. Facial nerve decompression is rarely indicated or performed. Physical therapy modalities, including electrostimulation, exercise, and massage, are neither beneficial nor harmful.

  10. Bone age in cerebral palsy

    PubMed Central

    Miranda, Eduardo Régis de Alencar Bona; Palmieri, Maurício D'arc; de Assumpção, Rodrigo Montezuma César; Yamada, Helder Henzo; Rancan, Daniela Regina; Fucs, Patrícia Maria de Moraes Barros

    2013-01-01

    Objective To compare the chronological age and bone age among cerebral palsy patients in the outpatient clinic and its correlation with the type of neurological involvement, gender and functional status. Methods 401 patients with spastic cerebral palsy, and ages ranging from three months to 20 years old, submitted to radiological examination for bone age and analyzed by two independent observers according Greulich & Pyle. Results In the topographic distribution, there was a significant delay (p<0.005) in tetraparetic (17.7 months), hemiparetic (10.1 months), and diparetic patients (7.9 months). In the hemiparetic group, the mean bone age in the affected side was 96.88 months and the uncompromised side was 101.13 months (p<0.005). Regarding functional status, the ambulatory group showed a delay of 18.73 months in bone age (p<0.005). Comparing bone age between genders, it was observed a greater delay in males (13.59 months) than in females (9.63 months), but not statistically significant (p = 0.54). Conclusion There is a delay in bone age compared to chronological age influenced by the topography of spasticity, functional level and gender in patients with cerebral palsy. Level of Evidence IV, Case Series. PMID:24453693

  11. Caring for Children with Cerebral Palsy: A Team Approach.

    ERIC Educational Resources Information Center

    Dormans, John P., Ed.; Pellegrino, Louis, Ed.

    Twenty-one papers on caring for children with cerebral palsy are organized into four sections, including: (1) cerebral palsy and the interdisciplinary team approach; (2) management of impairments related to cerebral palsy; (3) preventing disability by optimizing function of the child with cerebral palsy; and (4) preventing handicap by creating…

  12. Clinical practice guideline: Bell's Palsy executive summary.

    PubMed

    Baugh, Reginald F; Basura, Gregory J; Ishii, Lisa E; Schwartz, Seth R; Drumheller, Caitlin Murray; Burkholder, Rebecca; Deckard, Nathan A; Dawson, Cindy; Driscoll, Colin; Gillespie, M Boyd; Gurgel, Richard K; Halperin, John; Khalid, Ayesha N; Kumar, Kaparaboyna Ashok; Micco, Alan; Munsell, Debra; Rosenbaum, Steven; Vaughan, William

    2013-11-01

    The American Academy of Otolaryngology-Head and Neck Surgery Foundation (AAO-HNSF) has published a supplement to this issue featuring the new Clinical Practice Guideline: Bell's Palsy. To assist in implementing the guideline recommendations, this article summarizes the rationale, purpose, and key action statements. The 11 recommendations developed encourage accurate and efficient diagnosis and treatment and, when applicable, facilitate patient follow-up to address the management of long-term sequelae or evaluation of new or worsening symptoms not indicative of Bell's palsy. There are myriad treatment options for Bell's palsy; some controversy exists regarding the effectiveness of several of these options, and there are consequent variations in care. In addition, there are numerous diagnostic tests available that are used in the evaluation of patients with Bell's palsy. Many of these tests are of questionable benefit in Bell's palsy. Furthermore, while patients with Bell's palsy enter the health care system with facial paresis/paralysis as a primary complaint, not all patients with facial paresis/paralysis have Bell's palsy. It is a concern that patients with alternative underlying etiologies may be misdiagnosed or have an unnecessary delay in diagnosis. All of these quality concerns provide an important opportunity for improvement in the diagnosis and management of patients with Bell's palsy.

  13. New Hope for Children with Cerebral Palsy.

    ERIC Educational Resources Information Center

    Obringer, S. John

    This paper explains the use of a unique experimental therapy for students with a type of cerebral palsy specifically called Botox. Botulinum Toxin Type A has been tried on a sizable number of students with cerebral palsy in clinical settings to reduce spastic and dystonic movements. By injecting Botox into overly tight heel cords, a normal or near…

  14. Mobility Experiences of Adolescents with Cerebral Palsy

    ERIC Educational Resources Information Center

    Palisano, Robert J.; Shimmell, Lorie J.; Stewart, Debra; Lawless, John J.; Rosenbaum, Peter L.; Russell, Dianne J.

    2009-01-01

    The purpose of this study was to describe how youth with cerebral palsy experience mobility in their daily lives using a phenomenological approach. The participants were 10 youth with cerebral palsy, 17 to 20 years of age, selected using purposeful sampling with maximum variation strategies. A total of 14 interviews were completed. Transcripts…

  15. Valacyclovir for the treatment of Bell's palsy.

    PubMed

    Hato, Naohito; Sawai, Naoki; Teraoka, Masato; Wakisaka, Hiroyuki; Takahashi, Hirotaka; Hinohira, Yasuyuki; Gyo, Kiyofumi

    2008-10-01

    Despite recent evidence suggesting that Bell's palsy is associated with reactivation of alfa-herpes viruses, the disease has been treated empirically, and the use of valacyclovir has not been definitively established. In 2007, two prospective, randomised, placebo-controlled trials evaluating valacyclovir were reported in patients with Bell's palsy. One demonstrated that valacyclovir/prednisolone therapy was statistically more effective than placebo/prednisolone therapy in improving the recovery of patients with Bell's palsy, excluding zoster sine herpete. However, considering the cost-benefit ratio of this treatment and the limitations of virological diagnoses, we recommend that valacyclovir should be used in cases of severe palsy within 3 days after the onset of Bell's palsy.

  16. Isolated oculomotor nerve palsy resulting from acute traumatic tentorial subdural hematoma

    PubMed Central

    Cui, Victoria; Kouliev, Timur

    2016-01-01

    Acute subdural hematoma (SDH) resulting from head trauma is a potentially life-threatening condition that requires expedient diagnosis and intervention to ensure optimal patient outcomes. Rapidly expanding or large hematomas, elevated intracranial pressure, and associated complications of brain herniation are associated with high mortality rates and poor recovery of neurological function. However, smaller bleeds (clot thickness <10 mm) or hematomas occurring in infrequent locations, such as the tentorium cerebelli, may be difficult to recognize and patients may present with unusual or subtle signs and symptoms, including isolated cranial nerve palsies. Knowledge of neuroanatomy supported by modern neuroimaging can greatly aid in recognition and diagnosis of such lesions. In this report, we present a case of isolated oculomotor nerve palsy resulting from compressive tentorial SDH following blunt head trauma, review the literature concerning similar cases, and make recommendations regarding the diagnosis of SDH in patients presenting with isolated cranial nerve palsies. PMID:27843362

  17. Interventions in progressive supranuclear palsy.

    PubMed

    Koros, Christos; Stamelou, Maria

    2016-01-01

    Progressive supranuclear palsy (PSP) an atypical parkinsonian with a common phenotype comprising early falls, the characteristic slowing of vertical saccades and a frontal syndrome with marked apathy (Richardson's syndrome). Currently, no effective symptomatic or neuroprotective treatment is available for PSP. Current medical have a limited role in PSP. Novel experimental treatments include davunetide or tideglusib, both inhibitors of glycogen synthase kinase-3 (GSK-3) that failed to improve the clinical outcome of PSP patients in two recent studies. Future interventions aiming at tau dysfunction and passive or active immunization are ongoing or underway.

  18. Alternating Hemiplegia with Ipsilateral Supranuclear Facial Palsy and Abducens Nerve Palsy Caused by Pontine Infarction.

    PubMed

    Maeshima, Shinichiro; Tsunoda, Tetsuya; Okamoto, Sayaka; Ozeki, Yasunori; Sonoda, Shigeru

    2016-01-01

    A 62-year-old right-handed man was diagnosed with a cerebral infarction in the ventromedial region of the left lower pons. He showed left abducens nerve palsy, left-sided supranuclear palsy of the lower part of the face and right hemiparesis. We hypothesized that the mechanism underlying the patient's ipsilateral supranuclear facial palsy involved the corticofacial fibers after they crossed the midline.

  19. Bell's palsy and herpes simplex virus.

    PubMed

    Schirm, J; Mulkens, P S

    1997-11-01

    Bell's palsy, which is defined as idiopathic peripheral facial paralysis of sudden onset, accounts for > 50% of all cases of facial paralysis. Different theories on the etiology of Bell's palsy have been proposed and investigated. Various clinical studies have suggested an etiological link between Bell's palsy and herpes simplex virus (HSV). In addition, animal experiments have shown the ability of HSV to induce facial paralysis. In our opinion, the possible link between Bell's palsy and HSV can only be explored properly by studying the human facial nerve, and especially the geniculate ganglion itself. Different groups have tried to detect hypothetically reactivated and hypothetically latent HSV in the facial nerves of Bell's palsy patients and control patients, respectively. The isolation of infectious HSV from facial nerve tissue by conventional cell culture methods appeared to be very difficult, also when Bell's palsy patients were tested. Instead, modern molecular methods, such as in situ hybridization and the polymerase chain reaction (PCR) could easily detect HSV DNA in geniculate ganglia. The detection of HSV-specific latency-associated transcripts in the ganglia of control patients provided further evidence for the hypothetically latent state of HSV in the geniculate ganglia in these patients. Recent PCR experiments performed by a Japanese group strongly suggest that the area adjacent to the geniculate ganglia does not usually contain any HSV at all, except in patients with Bell's palsy. This well-controlled study provides conclusive evidence that reactivation of HSV genomes from the geniculate ganglia is the most important cause of Bell's palsy. Consequently, it has been suggested that "Bell's palsy" be renamed as "herpetic facial paralysis".

  20. 11 Things to Know about Cerebral Palsy

    MedlinePlus

    ... Emails CDC Features 11 Things to Know about Cerebral Palsy Language: English Español (Spanish) Recommend on Facebook Tweet ... and families living with CP. Early Signs of CP From birth to 5 years of age, a ...

  1. Bell's palsy syndrome: mimics and chameleons.

    PubMed

    Fuller, Geraint; Morgan, Cathy

    2016-12-01

    In this article we will explore the mimics and chameleons of Bell's palsy and in addition argue that we should use the term 'Bell's palsy syndrome' to help guide clinical reasoning when thinking about patients with facial weakness. The diagnosis of Bell's palsy can usually be made on clinical grounds without the need for further investigations. This is because the diagnosis is not one of exclusion (despite this being commonly how it is described), a lower motor neurone facial weakness where all alternative causes have been eliminated, but rather a positive recognition of a clinical syndrome, with a number of exclusions, which are described below. This perhaps would be more accurately referred to a 'Bell's palsy syndrome'. Treatment with corticosteroids improves outcome; adding an antiviral probably reduces the rates of long-term complications.

  2. Bell's Palsy and Herpes Zoster Oticus.

    PubMed

    Morrow

    2000-09-01

    Normal facial movement is required for chewing, swallowing, speaking, and protecting the eye. Bell's palsy causes most cases of acute, unilateral facial palsy; infection with herpes simplex virus (HSV) type 1 may be its major cause. Varicella zoster virus (VZV) reactivation (Ramsay Hunt syndrome) is less common, but may appear without skin lesions in a form indistinguishable from Bell's palsy. Symptoms improve in nearly all patients with Bell's palsy, and most patients with Ramsay Hunt syndrome, but many are left with functional and cosmetic deficits. Steroids are frequently used to optimize outcomes in Bell's palsy, but proof of their effectiveness is marginal. Oral prednisone has been studied extensively, although some reports have suggested a higher recovery rate with intravenous steroids. Given the existing data, we support the use of oral prednisone in those patients with complete facial palsy, and no contraindications to their use (Fig. 1). In this author's opinion, the greatly increased cost and inconvenience of intravenous steroids cannot be justified by the data available. Antiviral agents may also be effective in treatment of Bell's palsy; HSV is susceptible to acyclovir and related agents. There have been few investigations of acyclovir treatment in Bell's palsy, but one controlled study showed added benefit when the drug was used with prednisone. The risk and cost of acyclovir is low enough that we support its use, with oral steroids, in those patients with complete facial paralysis. Several small studies have implied that oral acyclovir improves the outcome of facial palsy for patients with Ramsay Hunt syndrome. Although these studies do not prove efficacy, evidence for the benefits of antiviral agents in other forms of zoster is strong enough to recommend their use when the facial nerve is involved. VZV is less sensitive to acyclovir than HSV, so higher doses are recommended to treat Ramsay Hunt syndrome. Because some Ramsay Hunt syndrome patients

  3. Delayed facial palsy after head injury.

    PubMed Central

    Puvanendran, K; Vitharana, M; Wong, P K

    1977-01-01

    Where facial palsy follows head injury after many days, the mechanism is not clear, and there has been no detailed study on this condition. In this prospective study, an attempt is made to estimate this complication of head injury, and to study its pathogenesis, natural history, prognosis, and sequelae which differ markedly from Bell's palsy. It has a much worse prognosis and so surgical decompression should be considered early in this condition. Images PMID:301556

  4. Facial nerve palsy aboard a commercial aircraft.

    PubMed

    Grossman, Alon; Ulanovski, David; Barenboim, Erez; Azaria, Bella; Goldstein, Liav

    2004-12-01

    Facial baroparesis is facial nerve palsy secondary to barotrauma. This phenomenon is frequently seen in divers, but is under-reported there and has rarely been described in aviators or passengers aboard commercial aircraft. We describe a 24-yr-old healthy aviator who experienced an episode of facial nerve palsy during ascent while traveling as a passenger aboard a commercial flight. The probable pathogenesis of this phenomenon in this case is described.

  5. Management of peripheral facial nerve palsy.

    PubMed

    Finsterer, Josef

    2008-07-01

    Peripheral facial nerve palsy (FNP) may (secondary FNP) or may not have a detectable cause (Bell's palsy). Three quarters of peripheral FNP are primary and one quarter secondary. The most prevalent causes of secondary FNP are systemic viral infections, trauma, surgery, diabetes, local infections, tumor, immunological disorders, or drugs. The diagnosis of FNP relies upon the presence of typical symptoms and signs, blood chemical investigations, cerebro-spinal-fluid-investigations, X-ray of the scull and mastoid, cerebral MRI, or nerve conduction studies. Bell's palsy may be diagnosed after exclusion of all secondary causes, but causes of secondary FNP and Bell's palsy may coexist. Treatment of secondary FNP is based on the therapy of the underlying disorder. Treatment of Bell's palsy is controversial due to the lack of large, randomized, controlled, prospective studies. There are indications that steroids or antiviral agents are beneficial but also studies, which show no beneficial effect. Additional measures include eye protection, physiotherapy, acupuncture, botulinum toxin, or possibly surgery. Prognosis of Bell's palsy is fair with complete recovery in about 80% of the cases, 15% experience some kind of permanent nerve damage and 5% remain with severe sequelae.

  6. Delayed facial nerve decompression for Bell's palsy.

    PubMed

    Kim, Sang Hoon; Jung, Junyang; Lee, Jong Ha; Byun, Jae Yong; Park, Moon Suh; Yeo, Seung Geun

    2016-07-01

    Incomplete recovery of facial motor function continues to be long-term sequelae in some patients with Bell's palsy. The purpose of this study was to investigate the efficacy of transmastoid facial nerve decompression after steroid and antiviral treatment in patients with late stage Bell's palsy. Twelve patients underwent surgical decompression for Bell's palsy 21-70 days after onset, whereas 22 patients were followed up after steroid and antiviral therapy without decompression. Surgical criteria included greater than 90 % degeneration on electroneuronography and no voluntary electromyography potentials. This study was a retrospective study of electrodiagnostic data and medical chart review between 2006 and 2013. Recovery from facial palsy was assessed using the House-Brackmann grading system. Final recovery rate did not differ significantly in the two groups; however, all patients in the decompression group recovered to at least House-Brackmann grade III at final follow-up. Although postoperative hearing threshold was increased in both groups, there was no significant between group difference in hearing threshold. Transmastoid decompression of the facial nerve in patients with severe late stage Bell's palsy at risk for a poor facial nerve outcome reduced severe complications of facial palsy with minimal morbidity.

  7. Surgical management of third nerve palsy

    PubMed Central

    Singh, Anupam; Bahuguna, Chirag; Nagpal, Ritu; Kumar, Barun

    2016-01-01

    Third nerve paralysis has been known to be associated with a wide spectrum of presentation and other associated factors such as the presence of ptosis, pupillary involvement, amblyopia, aberrant regeneration, poor bell's phenomenon, superior oblique (SO) overaction, and lateral rectus (LR) contracture. Correction of strabismus due to third nerve palsy can be complex as four out of the six extraocular muscles are involved and therefore should be approached differently. Third nerve palsy can be congenital or acquired. The common causes of isolated third nerve palsy in children are congenital (43%), trauma (20%), inflammation (13%), aneurysm (7%), and ophthalmoplegic migraine. Whereas, in adult population, common etiologies are vasculopathic disorders (diabetes mellitus, hypertension), aneurysm, and trauma. Treatment can be both nonsurgical and surgical. As nonsurgical modalities are not of much help, surgery remains the main-stay of treatment. Surgical strategies are different for complete and partial third nerve palsy. Surgery for complete third nerve palsy may involve supra-maximal recession - resection of the recti. This may be combined with SO transposition and augmented by surgery on the other eye. For partial third nerve, palsy surgery is determined according to nature and extent of involvement of extraocular muscles. PMID:27433033

  8. Cerebral Palsy Gait, Clinical Importance

    PubMed Central

    TUGUI, Raluca Dana; ANTONESCU, Dinu

    2013-01-01

    ABSTRACT Cerebral palsy refers to a lesion on an immature brain, that determines permanent neurological disorders. Knowing the exact cause of the disease does not alter the treatment management. The etiology is 2-2.5/1000 births and the rate is constant in the last 40-50 years because advances in medical technologies have permitted the survival of smaller and premature new born children. Gait analysis has four directions: kinematics (represents body movements analysis without calculating the forces), kinetics (represents body moments and forces), energy consumption (measured by oximetry), and neuromuscular activity (measured by EMG). Gait analysis can observe specific deviations in a patient, allowing us to be more accurate in motor diagnoses and treatment solutions: surgery intervention, botulinum toxin injection, use of orthosis, physical kinetic therapy, oral medications, baclofen pump. PMID:24790675

  9. Genetics of Progressive Supranuclear Palsy.

    PubMed

    Im, Sun Young; Kim, Young Eun; Kim, Yun Joong

    2015-09-01

    Progressive supranuclear palsy (PSP) is a neurodegenerative syndrome that is clinically characterized by progressive postural instability, supranuclear gaze palsy, parkinsonism and cognitive decline. Pathologically, diagnosis of PSP is based on characteristic features, such as neurofibrillary tangles, neutrophil threads, tau-positive astrocytes and their processes in basal ganglia and brainstem, and the accumulation of 4 repeat tau protein. PSP is generally recognized as a sporadic disorder; however, understanding of genetic background of PSP has been expanding rapidly. Here we review relevant publications to outline the genetics of PSP. Although only small number of familial PSP cases have been reported, the recognition of familial PSP has been increasing. In some familial cases of clinically probable PSP, PSP pathologies were confirmed based on NINDS neuropathological diagnostic criteria. Several mutations in MAPT, the gene that causes a form of familial frontotemporal lobar degeneration with tauopathy, have been identified in both sporadic and familial PSP cases. The H1 haplotype of MAPT is a risk haplotype for PSP, and within H1, a sub-haplotype (H1c) is associated with PSP. A recent genome-wide association study on autopsyproven PSP revealed additional PSP risk alleles in STX6 and EIF2AK3. Several heredodegenerative parkinsonian disorders are referred to as PSP-look-alikes because their clinical phenotype, but not their pathology, mimics PSP. Due to the fast development of genomics and bioinformatics, more genetic factors related to PSP are expected to be discovered. Undoubtedly, these studies will provide a better understanding of the pathogenesis of PSP and clues for developing therapeutic strategies.

  10. [Progressive supranuclear palsy: what's new?].

    PubMed

    Levy, Richard

    2011-06-01

    Progressive supranuclear palsy (PSP) has been described as a clinical syndrome characterized by an impairment of voluntary control of gaze (supranuclear palsy), postural and gait instability, and behavioral and cognitive deficits including a frontal syndrome and psychic retardation. However, in the recent years, at least four other clinical forms of PSP have been recognized: PSP-Parkinsonism, "pure akinesia with gait freezing", PSP with cortico-basal syndrome, and PSP with speech apraxia. PSP-Parkinsonism mimics the signs and symptoms of idiopathic Parkinson's disease, including a significant reactivity to levodopa. "Pure akinesia with gait freezing" is characterized by a difficulty of self-initiation of motor programs, usually walking program. PSP with cortico-basal syndrome mimics cortico-basal degeneration (CBD) in that unilateral or asymmetric limb dystonia and apraxia are prominent signs. PSP with speech apraxia is an isolated syndrome of progressive anarthria. All these clinical syndromes are due to brain accumulation of phosphorylated tau protein. The differences in clinical expression within the framework of PSP can be explained by the differences in the topographical distribution of the lesions. PSP is considered as a primary tau disease ("tauopathy") such as CBD and some forms of fronto-temporal lobar degeneration. At the level of neuropathology, the pattern of tau abnormal inclusions differentiates PSP from other tau diseases, but some overlaps are reported. Moreover, several of the clinical forms of PSP partially or fully overlap with the other tauopathies. As a whole, the emergence of new clinical forms of PSP challenges the nosology of tauopathies and our understanding of these diseases.

  11. Genetics of Progressive Supranuclear Palsy

    PubMed Central

    Im, Sun Young; Kim, Young Eun; Kim, Yun Joong

    2015-01-01

    Progressive supranuclear palsy (PSP) is a neurodegenerative syndrome that is clinically characterized by progressive postural instability, supranuclear gaze palsy, parkinsonism and cognitive decline. Pathologically, diagnosis of PSP is based on characteristic features, such as neurofibrillary tangles, neutrophil threads, tau-positive astrocytes and their processes in basal ganglia and brainstem, and the accumulation of 4 repeat tau protein. PSP is generally recognized as a sporadic disorder; however, understanding of genetic background of PSP has been expanding rapidly. Here we review relevant publications to outline the genetics of PSP. Although only small number of familial PSP cases have been reported, the recognition of familial PSP has been increasing. In some familial cases of clinically probable PSP, PSP pathologies were confirmed based on NINDS neuropathological diagnostic criteria. Several mutations in MAPT, the gene that causes a form of familial frontotemporal lobar degeneration with tauopathy, have been identified in both sporadic and familial PSP cases. The H1 haplotype of MAPT is a risk haplotype for PSP, and within H1, a sub-haplotype (H1c) is associated with PSP. A recent genome-wide association study on autopsyproven PSP revealed additional PSP risk alleles in STX6 and EIF2AK3. Several heredodegenerative parkinsonian disorders are referred to as PSP-look-alikes because their clinical phenotype, but not their pathology, mimics PSP. Due to the fast development of genomics and bioinformatics, more genetic factors related to PSP are expected to be discovered. Undoubtedly, these studies will provide a better understanding of the pathogenesis of PSP and clues for developing therapeutic strategies. PMID:26413239

  12. Obesity in Pregnancy Tied to Cerebral Palsy Risk in Kids

    MedlinePlus

    ... fullstory_163962.html Obesity in Pregnancy Tied to Cerebral Palsy Risk in Kids But study authors stress that ... chances that their baby could be born with cerebral palsy, a new study suggests. Researchers looked at information ...

  13. Attitudes and Needs of Parents of Cerebral Palsied Children.

    ERIC Educational Resources Information Center

    Knott, Gladys P.

    1979-01-01

    The article reviews the literature in the following five areas of concern for parents of cerebral palsied children: causes and effects of cerebral palsy, family dynamics, counseling, educational and vocational programs, and employment. (PHR)

  14. Extraocular Muscle Compartments in Superior Oblique Palsy

    PubMed Central

    Suh, Soh Youn; Clark, Robert A.; Le, Alan; Demer, Joseph L.

    2016-01-01

    Purpose To investigate changes in volumes of extraocular muscle (EOM) compartments in unilateral superior oblique (SO) palsy using magnetic resonance imaging (MRI). Methods High-resolution, surface-coil MRI was obtained in 19 patients with unilateral SO palsy and 19 age-matched orthotropic control subjects. Rectus EOMs and the SO were divided into two anatomic compartments for volume analysis in patients with unilateral SO palsy, allowing comparison of total compartmental volumes versus controls. Medial and lateral compartmental volumes of the SO muscle were compared in patients with isotropic (round shape) versus anisotropic (elongated shape) SO atrophy. Results The medial and lateral compartments of the ipsilesional SO muscles were equally atrophic in isotropic SO palsy, whereas the lateral compartment was significantly smaller than the medial in anisotropic SO palsy (P = 0.01). In contrast to the SO, there were no differential compartmental volume changes in rectus EOMs; however, there was significant total muscle hypertrophy in the ipsilesional inferior rectus (IR) and lateral rectus (LR) muscles and contralesional superior rectus (SR) muscles. Medial rectus (MR) volume was normal both ipsi- and contralesionally. Conclusions A subset of patients with SO palsy exhibit selective atrophy of the lateral, predominantly vertically acting SO compartment. Superior oblique atrophy is associated with whole-muscle volume changes in the ipsilesional IR, ipsilesional LR, and contralesional SR; however, SO muscle atrophy is not associated with compartmentally selective volume changes in the rectus EOMs. Selective compartmental SO pathology may provide an anatomic mechanism that explains some of the variability in clinical presentations of SO palsy. PMID:27768791

  15. Diagnosis, treatment, and prevention of cerebral palsy.

    PubMed

    O'Shea, Thomas Michael

    2008-12-01

    Cerebral palsy is the most prevalent cause of persisting motor function impairment with a frequency of about 1/500 births. In developed countries, the prevalence rose after introduction of neonatal intensive care, but in the past decade, this trend has reversed. A recent international workshop defined cerebral palsy as "a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to non-progressive disturbances that occurred in the developing fetal or infant brain." In a majority of cases, the predominant motor abnormality is spasticity; other forms of cerebral palsy include dyskinetic (dystonia or choreo-athetosis) and ataxic cerebral palsy. In preterm infants, about one-half of the cases have neuroimaging abnormalities, such as echolucency in the periventricular white matter or ventricular enlargement on cranial ultrasound. Among children born at or near term, about two-thirds have neuroimaging abnormalities, including focal infarction, brain malformations, and periventricular leukomalacia. In addition to the motor impairment, individuals with cerebral palsy may have sensory impairments, cognitive impairment, and epilepsy. Ambulation status, intelligence quotient, quality of speech, and hand function together are predictive of employment status. Mortality risk increases incrementally with increasing number of impairments, including intellectual, limb function, hearing, and vision. The care of individuals with cerebral palsy should include the provision of a primary care medical home for care coordination and support; diagnostic evaluations to identify brain abnormalities, severity of neurologic and functional abnormalities, and associated impairments; management of spasticity; and care for associated problems such as nutritional deficiencies, pain, dental care, bowel and bladder continence, and orthopedic complications. Current strategies to decrease the risk of cerebral palsy include interventions to

  16. Bell's Palsy following acupuncture treatment--a case report.

    PubMed

    Rosted, Palle; Woolley, David R

    2007-06-01

    A case of Bell's palsy after acupuncture is presented. It concerns a healthy 47 year old man who developed Bell's palsy less than 24 hours after local acupuncture treatment for temporomandibular dysfunction. The Bell's palsy recovered within two weeks, and may have been caused by a haematoma around the facial nerve.

  17. Mental Imagery Abilities in Adolescents with Spastic Diplegic Cerebral Palsy

    ERIC Educational Resources Information Center

    Courbois, Yanick; Coello, Yann; Bouchart, Isabelle

    2004-01-01

    Four visual imagery tasks were presented to three groups of adolescents with or without spastic diplegic cerebral palsy. The first group was composed of six adolescents with cerebral palsy who had associated visual-perceptual deficits (CP-PD), the second group was composed of five adolescents with cerebral palsy and no associated visual-perceptual…

  18. Auditory Selective Attention in Cerebral-Palsied Individuals.

    ERIC Educational Resources Information Center

    Laraway, Lee Ann

    1985-01-01

    To examine differences between auditory selective attention abilities of normal and cerebral-palsied individuals, 23 cerebral-palsied and 23 normal subjects (5-21) were asked to repeat a series of 30 items in presence of intermittent white noise. Results indicated that cerebral-palsied individuals perform significantly more poorly when the…

  19. Sixth Nerve Palsy from Cholesterol Granuloma of the Petrous Apex

    PubMed Central

    Roemer, Ségolène; Maeder, Philippe; Daniel, Roy Thomas; Kawasaki, Aki

    2017-01-01

    Herein, we report a patient who had an isolated sixth nerve palsy due to a petrous apex cholesterol granuloma. The sixth nerve palsy appeared acutely and then spontaneously resolved over several months, initially suggesting a microvascular origin of the palsy. Subsequent recurrences of the palsy indicated a different pathophysiologic etiology and MRI revealed the lesion at the petrous apex. Surgical resection improved the compressive effect of the lesion at Dorello’s canal and clinical improvement was observed. A relapsing–remitting sixth nerve palsy is an unusual presentation of this rare lesion. PMID:28261154

  20. Peroneal nerve branching suggests compression palsy in the deformities of Charcot-Marie Tooth disease.

    PubMed

    Guyton, Gregory P

    2006-10-01

    Altered expression of the PMP-22 protein may be implicated in Charcot-Marie-Tooth disease and the much rarer disease, hereditary liability to pressure palsy. An element of chronic pressure palsy may explain the unique distribution of motor imbalance in patients with Charcot-Marie-Tooth disease. If this is the case, innervation of the lateral leg motor units should show sufficient anatomic segregation to explain the variable disease patterns. Twelve fresh cadaver specimens were dissected to examine the innervation of the anterior and lateral compartment muscles from the peroneal nerve. Nine specimens had a branch to the peroneus longus at or proximal to nerve passage of the posterior fibular neck. The first branch to the peroneus longus was 2.1 +/- 6.7 mm proximal, and the first branch to the peroneus brevis was 110.9 +/- 19 mm distal. The nerve to the tibialis anterior originated within 5 mm of the reference point and wrapped transversely along the fibular neck for 17.2 +/- 1.4 mm. These discrete pathways to the individual motor units in the anterolateral leg were consistent with the possible implication of chronic pressure palsy in the patterns of atrophy in Charcot-Marie-Tooth disease.

  1. Managing cognition in progressive supranuclear palsy.

    PubMed

    Rittman, Timothy; Coyle-Gilchrist, Ian Ts; Rowe, James B

    2016-12-01

    Cognitive impairment is integral to the syndrome of progressive supranuclear palsy. It is most commonly described as a frontal dysexecutive syndrome but other impairments include apathy, impulsivity, visuospatial and memory functions. Cognitive dysfunction may be exacerbated by mood disturbance, medication and communication problems. In this review we advocate an individualized approach to managing cognitive impairment in progressive supranuclear palsy with the education of caregivers as a central component. Specific cognitive and behavioral treatments are complemented by treatment of mood disturbances, rationalizing medications and a patient-centered approach to communication. This aims to improve patients' quality of life, reduce carer burden and assist people with progressive supranuclear palsy in decisions about their life and health, including discussions of feeding and end-of-life issues.

  2. The phenotypic spectrum of progressive supranuclear palsy.

    PubMed

    Respondek, G; Höglinger, G U

    2016-01-01

    Traditionally, the clinical picture of progressive supranuclear palsy (PSP) was defined by early postural instability with falls, supranuclear vertical gaze palsy, symmetric akinesia and rigidity, frontal and subcortical dementia, and pseudobulbar palsy, leading to death after a mean disease duration of approximately six years. A definite diagnosis of PSP depends on neuropathological confirmation. In recent years, clinico-pathological studies have drawn attention to various "atypical" clinical manifestations of PSP. In these, a clinical diagnosis of PSP is delayed or never accomplished. Comprehensive understanding of the natural history of PSP is required to permit an early and accurate diagnosis. Based on current evidence, this review provides an update on the clinical spectrum of PSP.

  3. Diagnosis and management of Bell's palsy.

    PubMed

    Santos, Renata de Faria; Brasileiro, Bernardo Ferreira

    2011-01-01

    Bell's palsy (BP) is an idiopathic peripheral facial nerve paralysis of sudden onset. Its most alarming symptom is unilateral facial weakness, which can result in the inability to close the eyelids, smile, or whistle. The pathogenesis of BP is controversial and is believed to be caused by inflammation of the facial nerve at the geniculate ganglion. Many viruses, especially herpes simplex and herpes zoster, have been suggested as initiators of this inflammatory process; however, this has not been proven. This report describes the case of a 14-year-old girl with right hemifacial palsy who sought treatment one month after the onset of palsy. The patient experienced a satisfactory recovery within 30 days of treatment and has maintained a stable physical outcome after 15 months of follow-up. Early treatment based on careful investigation of BP, with particular attention given to the differential diagnosis of BP, can improve the patient's function and esthetics.

  4. Cerebral palsy. A pediatric developmentalist's overview.

    PubMed

    Vining, E P; Accardo, P J; Rubenstein, J E; Farrell, S E; Roizen, N J

    1976-06-01

    Exploration of the history, terminology, and classification of cerebral palsy reveals it as a complex entity. Criteria exist that may make early diagnosis and appropriate intervention possible. Dealing with patients who have cerebral palsy requires recognition of the associated problems and deficits. Comprehensive management usually requires a multidisciplinary setting, which is used to outline the contributions of many therapeutic modalities--developmental pediatrics, occupational and physical therapy, hearing and speech, psychology, social services, special education, ophthalamology, neurology, orthopedics and neurosurgery. The poor prognosis for full function within the community is recognized, as are areas of research that require investigation.

  5. Peripheral myelin protein 22 gene duplication with atypical presentations: a new example of the wide spectrum of Charcot-Marie-Tooth 1A disease.

    PubMed

    Mathis, Stéphane; Corcia, Philippe; Tazir, Meriem; Camu, William; Magdelaine, Corinne; Latour, Philippe; Biberon, Julien; Guennoc, Anne-Marie; Richard, Laurence; Magy, Laurent; Funalot, Benoît; Vallat, Jean-Michel

    2014-06-01

    Charcot-Marie-Tooth type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) are both autosomal-dominant disorders linked to peripheral myelin anomalies. CMT1A is associated with a Peripheral Myelin Protein 22 (PMP22) duplication, whereas HNPP is due to a PMP22 deletion on chromosome 17. In spite of this crucial difference, we report three observations of patients with the 1.4 megabase CMT1A duplication and atypical presentation (electrophysiological, clinical or pathological): a 10 year-old girl with tomaculous lesions on nerve biopsy; a 26 year-old woman with recurrent paresthesiae and block conduction on the electrophysiological study; a 46 year-old woman with transient recurrent nerve palsies mimicking HNPP. These observations highlight the wide spectrum of CMT1A and the overlap between CMT1A and HNPP (both linked to the PMP22 gene), and finally illustrate the complexity of the genotype-phenotype correlations in Charcot-Marie-Tooth diseases.

  6. Orthostatic tremor in progressive supranuclear palsy.

    PubMed

    de Bie, Rob M A; Chen, Robert; Lang, Anthony E

    2007-06-15

    Patients with orthostatic tremor (OT) can be classified as having "primary OT," with or without postural arm tremor but no other abnormal neurological features, or "OT plus." We describe a patient with OT, with postural tremor of the arms and restless legs syndrome (RLS), who developed features typical of progressive supranuclear palsy (PSP). PSP can be accompanied by OT.

  7. Bell's palsy and infection with rubella virus.

    PubMed Central

    Jamal, G A; Al-Husaini, A

    1983-01-01

    Viral antibody-titres were measured in 28 patients with Bell's palsy seen in Baghdad. These cases were selected to include only those seen within 24 hours from onset. No association with recent viral infection other than rubella virus was demonstrated. Four cases showed immunological evidence of simultaneous rubella virus infection but without other clinical evidence of the disease. PMID:6886708

  8. Facial nerve palsy and hemifacial spasm.

    PubMed

    Valls-Solé, Josep

    2013-01-01

    Facial nerve lesions are usually benign conditions even though patients may present with emotional distress. Facial palsy usually resolves in 3-6 weeks, but if axonal degeneration takes place, it is likely that the patient will end up with a postparalytic facial syndrome featuring synkinesis, myokymic discharges, and hemifacial mass contractions after abnormal reinnervation. Essential hemifacial spasm is one form of facial hyperactivity that must be distinguished from synkinesis after facial palsy and also from other forms of facial dyskinesias. In this condition, there can be ectopic discharges, ephaptic transmission, and lateral spread of excitation among nerve fibers, giving rise to involuntary muscle twitching and spasms. Electrodiagnostic assessment is of relevance for the diagnosis and prognosis of peripheral facial palsy and hemifacial spasm. In this chapter the most relevant clinical and electrodiagnostic aspects of the two disorders are reviewed, with emphasis on the various stages of facial palsy after axonal degeneration, the pathophysiological mechanisms underlying the various features of hemifacial spasm, and the cues for differential diagnosis between the two entities.

  9. Gait Stability in Children with Cerebral Palsy

    ERIC Educational Resources Information Center

    Bruijn, Sjoerd M.; Millard, Matthew; van Gestel, Leen; Meyns, Pieter; Jonkers, Ilse; Desloovere, Kaat

    2013-01-01

    Children with unilateral Cerebral Palsy (CP) have several gait impairments, amongst which impaired gait stability may be one. We tested whether a newly developed stability measure (the foot placement estimator, FPE) which does not require long data series, can be used to asses gait stability in typically developing (TD) children as well as…

  10. Complementary and Alternative Therapies for Cerebral Palsy

    ERIC Educational Resources Information Center

    Liptak, Gregory S.

    2005-01-01

    The optimal practice of medicine includes integrating individual clinical expertise with the best available clinical evidence from systematic research. This article reviews nine treatment modalities used for children who have cerebral palsy (CP), including hyperbaric oxygen, the Adeli Suit, patterning, electrical stimulation, conductive education,…

  11. Pretend Play of Children with Cerebral Palsy

    ERIC Educational Resources Information Center

    Pfeifer, Luzia Iara; Pacciulio, Amanda Mota; dos Santos, Camila Abrao; dos Santos, Jair Licio; Stagnitti, Karen Ellen

    2011-01-01

    Background and Purpose: Evaluate self-initiated pretend play of children with cerebral palsy. Method: Twenty preschool children participated in the study. Pretend play ability was measured by using the child-initiated pretend play assessment culturally adapted to Brazil. Results: There were significant negative correlations between the children's…

  12. Paraneoplastic syndrome mimicking progressive supranuclear palsy.

    PubMed

    Dash, Deepa; Choudhary, Rima; Ramanujam, Bhargavi; Vasantha, Padma M; Tripathi, Manjari

    2016-10-01

    Paraneoplastic syndrome presenting with progressive supranuclear palsy (PSP) phenotype is extremely rare. We report a patient who presented with features of rapidly progressive parkinsonism similar to PSP and was found to have small cell carcinoma of the lung along with seropositivity for onconeural antigen. The patient was treated with immunomodulation and was given chemotherapy for the malignancy and subsequently improved.

  13. Narrative Ability in Children with Cerebral Palsy

    ERIC Educational Resources Information Center

    Holck, Pernille; Sandberg, Annika Dahlgren; Nettelbladt, Ulrika

    2011-01-01

    In a previous study a group of children with cerebral palsy (CP) were found to have considerable difficulties with narratives, performing several standard deviations below the criteria for the Information score of the Bus Story Test (BST). To examine in depth the performance of children with CP and a control group with typically developing (TD)…

  14. Respiratory distress in a one-month-old child suffering brachial plexus palsy.

    PubMed

    Héritier, Odile; Vasseur Maurer, Sabine; Reinberg, Olivier; Cotting, Jacques; Perez, Marie-Hélène

    2013-01-01

    This paper describes a one-month-old girl presenting with respiratory and growth failure due to diaphragmatic paralysis associated with left brachial plexus palsy after forceps delivery. Despite continuous positive pressure ventilation and nasogastric feeding, the situation did not improve and a laparoscopic diaphragmatic plication had to be performed. When dealing with a child born with brachial plexus palsy, one must think of this possible association and if necessary proceed to the complementary radiological examinations. The treatment must avoid complications like feeding difficulties and failure to thrive, respiratory infections or atelectasis. It includes intensive support and a good evaluation of the prognosis of the lesion to decide the best moment for a surgical therapy.

  15. Gait Trainer for Children with Spastic Cerebral Palsy

    DTIC Science & Technology

    2001-10-25

    teachers. Keywords - Gait Trainer, Celebral Force Measurement, Biofeedback T I. INTRODU Cerebral Palsy (CP) is a phys brain damage. Cerebral...means a palsy refers to faulty links betw nerves. Generally brain damage is variety of causes before and durin birth. Some of the variety causes...carbon monoxide poisoning, smok and tumors of the brain. W The University GAIT TRAINER FOR CHILDREN ITH SPASTIC CEREBRAL PALSY Oğuzhan URHAN, Hasan

  16. Benign recurrent abducens (6th) nerve palsy in two children.

    PubMed

    Knapp, Christopher M; Gottlob, Irene

    2004-03-01

    Benign recurrent abducens (6th) nerve palsy is rare. We found 23 cases in children reported in the literature; however, many of these cases followed immunization or were associated with viral illness. Here we report two cases of recurrent abducens nerve palsy with no obvious etiology. The diagnosis should be considered in any child who experiences abducens nerve palsy in the absence of any underlying pathology or precipitating factors.

  17. Bell's palsy associated with herpes simplex gingivostomatitis. A case report.

    PubMed

    Nasatzky, E; Katz, J

    1998-09-01

    Bell's palsy is a sudden, isolated, peripheral facial paralysis caused by various known and sometimes unknown factors. The case of an 18-year-old man who developed Bell's palsy after onset of primary herpetic gingivostomatitis is presented. Although Bell's palsy has already been associated with herpes simplex virus type 1, the described case is the first in the literature in which enzyme-linked immunosorbent assays for immunoglobulin G to herpes simplex virus type 1 and herpes simplex virus type 1 culture were both positive. The recent literature regarding the possible relationship between herpes simplex virus type 1 and Bell's palsy is reviewed and discussed.

  18. Hyperbaric oxygen as a therapy of Bell's palsy.

    PubMed

    Racic, G; Denoble, P J; Sprem, N; Bojic, L; Bota, B

    1997-01-01

    The purpose of this study was to compare the therapeutic effects of hyperbaric oxygen (HBO2) to the effects of prednisone treatment in 79 subjects with Bell's palsy. Patients were randomly assigned either to the HBO2-treated group (n = 42) or to the prednisone-treated group (n = 37). The HBO2 group was exposed to 2.8 atm abs of 100% oxygen for 60 min, twice a day, 5 days a week and was given a placebo orally. The prednisone group was exposed to 2.8 atm abs of 7% O2 (equivalent to 21% O2 in air at normal pressure) following the same schedule as the HBO2 group; prednisone was given orally (total of 450 mg in 8 days). Subjects from both groups were treated in the hyperbaric chamber for up to 30 sessions or to complete recovery, and were followed up for 9 mo. At the end of the follow-up period, 95.2% of subjects treated with HBO2, and 75.7% of subjects treated with prednisone recovered completely. The average time to complete the recovery in the HBO2 group was 22 days as opposed to 34.4 days in the control group (P < 0.001). In the HBO2-treated group, at the beginning, the altered nerve excitability test (NET) was abnormal in five subjects; three of them had normal NET by the end of the follow-up period. In the prednisone group the NET was abnormal in nine subjects at the beginning and they had not recovered by the end of the follow-up (P < 0.05). Our results suggest that HBO2 is more effective than prednisone in treatment of Bell's palsy.

  19. Peroneal nerve palsy after compression stockings application

    PubMed Central

    Kim, Jun Hyun; Kim, Won Il; Kim, Ji Yeon; Choe, Won Joo

    2016-01-01

    Peroneal nerve palsy can be caused by various etiology. We report unilateral peroneal nerve palsy after compression stockings application. A 64-year-old man underwent off-pump coronary bypass graft. Surgeon did not use saphenous vein for the bypass graft. Sedation was stopped after 3 h postoperative. After 16 h, for prophylaxis of deep vein thrombosis, knee-high elastic stocking was applied. After 1 h, he took off right stocking because of numbness but left stocking was kept. After 24 h postoperative, (8 h after stocking application) patient complained suddenly left foot drop. Manual muscle test revealed 0/5 of ankle dorsiflexion, ankle eversion, and toe extension. Sensory was decreased to 70% in lower half of anterolateral aspect of tibia, foot dorsum, and toes. Foot drop and sensory abnormality decreased in 3 weeks. Cardiac surgery patients already have many risk factors for peripheral neuropathy. Clinicians should be careful when applying stockings on those patients. PMID:27833497

  20. Peroneal nerve palsy after compression stockings application.

    PubMed

    Kim, Jun Hyun; Kim, Won Il; Kim, Ji Yeon; Choe, Won Joo

    2016-01-01

    Peroneal nerve palsy can be caused by various etiology. We report unilateral peroneal nerve palsy after compression stockings application. A 64-year-old man underwent off-pump coronary bypass graft. Surgeon did not use saphenous vein for the bypass graft. Sedation was stopped after 3 h postoperative. After 16 h, for prophylaxis of deep vein thrombosis, knee-high elastic stocking was applied. After 1 h, he took off right stocking because of numbness but left stocking was kept. After 24 h postoperative, (8 h after stocking application) patient complained suddenly left foot drop. Manual muscle test revealed 0/5 of ankle dorsiflexion, ankle eversion, and toe extension. Sensory was decreased to 70% in lower half of anterolateral aspect of tibia, foot dorsum, and toes. Foot drop and sensory abnormality decreased in 3 weeks. Cardiac surgery patients already have many risk factors for peripheral neuropathy. Clinicians should be careful when applying stockings on those patients.

  1. Minor congenital anomalies and ataxic cerebral palsy.

    PubMed Central

    Miller, G

    1989-01-01

    The incidence of minor congenital anomalies was examined in 36 patients with ataxic cerebral palsy, in unaffected family members, and in 100 unrelated control subjects. None of the control subjects or family members had more than four anomalies, and 25 of 36 (69%) of the patients had more than four. The distribution of anomalies differed considerably, with 60% of the index cases having seven or more, and 94% of the controls having three or less. The number occurring in the patients was significantly more than in their relatives. Of the 25 patients with more than four anomalies, 16 (64%) had undergone potentially adverse perinatal or early postnatal events. Thus minor congenital anomalies were considerably more frequent in those with ataxic cerebral palsy than in related or unrelated control subjects. These anomalies may be markers of early prenatal factors that contributed to the adverse outcome either directly or by predisposing to perinatal difficulties. PMID:2751330

  2. Benign recurrent VI nerve palsy in childhood.

    PubMed

    Bixenman, W W; von Noorden, G K

    1981-01-01

    The case of a child with six documented episodes of benign recurrent unilateral VI nerve palsy between the ages of 2 1/2 months and 3 years is presented. Despite the recognized self-limiting course of this disorder, its possible evolution into a comitant esotropia makes close follow-up mandatory. The practical aspects of management including maintenance occlusion therapy are stressed as well as the need for prompt surgical intervention once the acquired stabismus has become stabilized. The etiology of benign VI nerve palsy of childhood may have the same immunological basis as other cases of para-infectious neuropathy. This isolated postinfective cranial mononeuropathy easily blends into the continuum of neurological involvement seen with the Landry-Guillian-Barre syndrome. With recovery from the initial episode, the abducens nerve may have become predisposed to recurrent inflammatory episodes and recurrent loss of function. Most often these recurrences are triggered by febrile illnesses of childhood.

  3. Assessment of the hand in cerebral palsy

    PubMed Central

    Bhardwaj, Praveen; Sabapathy, S. Raja

    2011-01-01

    Cerebral palsy is the musculoskeletal manifestation of a nonprogressive central nervous system lesion that usually occurs due to a perinatal insult to the brain. Though the cerebral insult is static the musculoskeletal pathology is progressive. Some patients with cerebral palsy whose hands are affected can be made better by surgery. The surgical procedures as such are not very technically demanding but the assessment, decision-making, and selecting the procedures for the given patient make this field challenging. When done well, the results are rewarding not only in terms of improvement in hand function but also in appearance and personal hygiene, which leads to better self-image and permits better acceptance in the society. This article focuses on the clinical examination, patient selection, and decision-making while managing these patients. PMID:22022045

  4. The `subcortical dementia' of progressive supranuclear palsy

    PubMed Central

    Albert, Martin L.; Feldman, Robert G.; Willis, Anne L.

    1974-01-01

    Progressive supranuclear palsy (Steele et al.) has a characteristic pattern of dementia: (1) forgetfulness, (2) slowing of thought processes, (3) emotional or personality changes (apathy or depression with occasional outbursts of irritability), and (4) impaired ability to manipulate acquired knowledge. In many neurological disease states associated with subcortical pathology a similar pattern of dementia exists. The neurobehavioural changes of progressive supranuclear palsy thus typify a clinical pattern which may be referred to as subcortical dementia. The subcortical dementias have a striking clinical resemblance to the dementia which occurs after bifrontal lobe disease. However, the subcortical dementias can be clearly distinguished clinically from cortical dementias, other than frontal dementias. We propose as a tentative hypothesis that there may be common pathophysiological mechanisms underlying the subcortical dementias—in particular, disturbances of timing and activation. There are immediate practical implications of this hypothesis: drugs which have an effect on subcortical timing and activating mechanisms may be useful in the treatment of subcortical dementias. PMID:4819905

  5. Genetics Home Reference: hereditary neuropathy with liability to pressure palsies

    MedlinePlus

    ... affected. Many people with this disorder experience carpal tunnel syndrome, which occurs when a nerve in the wrist (the median nerve) is involved. Carpal tunnel syndrome is characterized by numbness, tingling, and weakness ...

  6. Lever arm dysfunction in cerebral palsy gait.

    PubMed

    Theologis, Tim

    2013-11-01

    Skeletal structures act as lever arms during walking. Muscle activity and the ground reaction against gravity exert forces on the skeleton, which generate torque (moments) around joints. These lead to the sequence of movements which form normal human gait. Skeletal deformities in cerebral palsy (CP) affect the function of bones as lever arms and compromise gait. Lever arm dysfunction should be carefully considered when contemplating treatment to improve gait in children with CP.

  7. Hummingbird sign in progressive supranuclear palsy disease.

    PubMed

    Pandey, Sanjay

    2012-02-01

    Progressive supranuclear palsy (PSP) is characterized by slowness, rigidity, bradykinesia, repeated falls, downgaze limitation and dementia. Midbrain atrophy on magnetic resonance imaging is highly suggestive of PSP and is described as "hummingbird sign". This sign is very helpful in differentiating PSP patients from those with Parkinson's disease.We hereby report a 72-year-old female case of PSP primarily diagnosed with Parkinson's disease.

  8. Developmental disabilities: epilepsy, cerebral palsy, and autism.

    PubMed

    Surabian, S R

    2001-06-01

    This article provides the dentist with a review of the three developmental disabilities that do not have mental retardation as a diagnostic component: epilepsy, cerebral palsy, and autism. Discussion focuses on diagnostic criteria and other dental and medical considerations. A greater understanding of developmental disabilities allows the dentist to offer care in the dental office when feasible or to understand and develop referral relationships with colleagues who utilize the hospital operating room to provide comprehensive care.

  9. The effects of hippotherapy on postural balance and functional ability in children with cerebral palsy

    PubMed Central

    Moraes, Andréa Gomes; Copetti, Fernando; Angelo, Vera Regina; Chiavoloni, Luana Leonardo; David, Ana Cristina

    2016-01-01

    [Purpose] This study evaluated the effects of hippotherapy on seated postural balance, dynamic balance, and functional performance in children with cerebral palsy and compared the effects of 12 and 24 sessions on seated postural balance. [Subjects and Methods] This study included 15 children with cerebral palsy aged between 5 and 10 years. Interventions: A hippotherapy protocol was performed for 30 minutes, twice a week, for 12 weeks. Postural balance in a sitting position was measured using an AMTI AccuSway Plus force platform 1 week before initiating the hippotherapy program and after 12 and 24 weeks. The Berg Balance Scale (BBS) and Pediatric Evaluation of Disability Inventory (PEDI) were used before and after 24 sessions. [Results] Significant differences were observed for center of pressure (COP) variables, including medio-lateral (COPml), anteroposterior displacement (COPap), and velocity of displacement (VelCOP), particularly after 24 sessions. There were also significant differences in BBS scores and PEDI score increases associated with functional skills (self-care, social function, and mobility), caregiver assistance (self-care), social function, and mobility. [Conclusion] Hippotherapy resulted in improvement in postural balance in the sitting position, dynamic balance, and functionality in children with cerebral palsy, an effect particularly significant after 24 hippotherapy sessions. PMID:27630401

  10. [Prognostic value of electrodiagnosis of Bell's palsy].

    PubMed

    Laskawi, R; Drobik, C; Baaske, C

    1994-06-01

    Many papers report on a poor rate of complete restitution of Bell's palsy if signs of degeneration can be detected in neuromyography (NMG) or electromyography (EMG). In 119 patients who underwent infusion therapy (as developed by Stennert) 39% showed signs of degeneration in EMG or NMG. Complete restitution was achieved in 93% of these patients. Degeneration was more frequent in elderly patients (< 20 years: 20%, > 60 years: 55%). This did not affect the rate of complete restitution, which was constantly high for every age. If infusion therapy was started within 7 days after onset of the disease, no defects in restitution were observed, which was frequently so if therapy was started later. After one year the rate of complete restitution was about equal in cases with signs of degeneration (91%) and non-degenerative cases (94%). But 80% of the non-degenerative cases showed complete restitution within 3 months after onset of the palsy, whereas 80% of cases with signs of degeneration healed after this date (mean 6.1 months). After oral therapy with cortisol exclusively half of the degenerative cases did not attain complete restitution. After infusion therapy EMG and NMG do not answer the question if a Bell's palsy will heal completely or not but enable us to predict when this will probably be the case.

  11. [Third cranial nerve palsy in sphenoid sinusitis].

    PubMed

    Dores, Luís Almeida; Simão, Marco Alveirinho; Marques, Marta Canas; Dias, Éscar

    2014-01-01

    Sphenoid sinus disease is particular not only for its clinical presentation, as well as their complications. Although rare, these may present as cranial nerve deficits, so it is important to have a high index of suspicion and be familiar with its diagnosis and management. Symptoms are often nonspecific, but the most common are headache, changes in visual acuity and diplopia due to dysfunction of one or more ocular motor nerves. The authors report a case of a 59 years-old male, who was referred to the ENT emergency department with frontal headaches for one week which had progressively worsened and were associated, since the last 12 hours, with diplopia caused by left third cranial nerve palsy. Neurologic examination was normal aside from the left third cranial nerve palsy. Anterior and posterior rhinoscopy excluded the presence of nasal masses and purulent rhinorrhea. The CT scan revealed a soft tissue component and erosion of the roof of the left sphenoid sinus. Patient was admitted for intravenous antibiotics and steroids treatment without any benefit after 48 hours. He was submitted to endoscopic sinus surgery with resolution of the symptoms 10 days after surgery. The authors present this case for its rarity focusing on the importance of differential diagnosis in patients with headaches and cranial nerves palsies.

  12. The Effect of Long-Term Training Program on Balance in Children with Cerebral Palsy: Results of a Pilot Study for Individually Based Functional Exercises

    ERIC Educational Resources Information Center

    Uzun, Selda

    2013-01-01

    This study examines the effects of long-term training program on balance and center of pressure (COP) for four male children (13 years of age) with cerebral palsy (CP). These children were classified into one hemiplegic (level II), one diplegic (level II) and two quadriplegic children (levels III and II) using the Gross Motor Function…

  13. Kienböck's disease in cerebral palsy.

    PubMed

    Leclercq, C; Xarchas, C

    1998-12-01

    The incidence of Kienböck's disease is known to be higher in cerebral palsy patients, but little has been written on treatment. We report a case of Kienböck's disease in a young man affected by cerebral palsy. A proximal row carpectomy was done, which relieved spasticity at the same time as treating the disease.

  14. Bell's Palsy: Treatment with Steroids and Antiviral Drugs

    MedlinePlus

    ... Evidence-based Guideline for PATIENTS and their FAMILIES BELL’S PALSY: TREATMENT WITH STEROIDS AND ANTIVIRAL DRUGS This information ... role of steroids and antiviral drugs for treating Bell’s palsy. Neurologists from the AAN are doctors who identify ...

  15. Bell's palsy associated with influenza vaccination: two case reports.

    PubMed

    Chou, Cheng-Hsiu; Liou, Wen-Ping; Hu, Kun-I; Loh, Ching-Hui; Chou, Chih-Chieh; Chen, Yeong-Hwang

    2007-04-12

    The etiology of Bell's palsy is often unknown. We present herein two cases of adults who developed a Bell's palsy following the administration of an influenza vaccine. While the incidence is low, with the widespread recommendation for annual influenza vaccines, patients should be apprised of the possibility of this complication and the benefit of early treatment.

  16. Quality of Arithmetic Education for Children with Cerebral Palsy

    ERIC Educational Resources Information Center

    Jenks, Kathleen M.; de Moor, Jan; van Lieshout, Ernest C. D. M.; Withagen, Floortje

    2010-01-01

    The aim of this exploratory study was to investigate the quality of arithmetic education for children with cerebral palsy. The use of individual educational plans, amount of arithmetic instruction time, arithmetic instructional grouping, and type of arithmetic teaching method were explored in three groups: children with cerebral palsy (CP) in…

  17. Do oral steroids aid recovery in children with Bell's palsy?

    PubMed

    Ismail, Abdul Qader; Alake, Oluwaseyi; Kallappa, Chetana

    2014-10-01

    There is growing evidence that steroids are not beneficial for treatment of paediatric patients with Bell's palsy. To investigate, we conducted a retrospective longitudinal study examining notes of 100 children, over 12 years coded for facial nerve palsy. Of the 79 diagnosed with Bell's palsy, all recovered, and for 46 patients we had data on interval from onset of symptoms to resolution (median duration in treated group = 5 weeks, range = 39; median duration in untreated group = 6 weeks, range = 11; P = .86). From our results, we conclude that all children with Bell's palsy recovered, with or without steroid treatment, with no statistically significant difference in symptoms duration. Complications of unresolved Bell's palsy can have important long-term functional and psychosocial consequences. Therefore, we need further research on use of steroids in children with complete/severe cases; it would be a shame to omit treatment due to "absence of evidence" rather than "evidence of absence."

  18. Progressive supranuclear palsy: progression and survival.

    PubMed

    Arena, Julieta E; Weigand, Stephen D; Whitwell, Jennifer L; Hassan, Anhar; Eggers, Scott D; Höglinger, Günter U; Litvan, Irene; Josephs, Keith A

    2016-02-01

    Progressive supranuclear palsy (PSP) is a progressive neurodegenerative disorder characterized by postural instability and falls, vertical supranuclear gaze palsy, parkinsonism with poor levodopa response, pseudobulbar palsy, and frontal release signs. The natural history of the disease has been previously described. However, the time frame of appearance of clinical milestones and how these symptoms may relate to survival in PSP are unknown. The primary objective was to determine the prevalence of symptoms at different stages of PSP and to estimate the time of appearance of clinical symptoms characteristic of the disease. Second, we determined the association between clinical symptoms and survival. We prospectively studied 35 PSP patients during assessments scheduled every 6 months for up to 2 years. We estimated symptoms prevalence and the association between symptoms and survival. The median age of onset was 65.9 years (IQR 60.6-70.0), and the median time from onset to first assessment was 3.0 years (IQR 2.4-3.9). The most commonly reported symptoms at baseline were: motor (100%) followed by cognitive/behavioral (89%), systemic and bulbar (80%), and sleep disturbances (60%). Slowness of movement, falls, neck stiffness and difficulty looking up/down had high prevalence from baseline, while balance and gait impairment were less common at baseline but increased in prevalence over time. The presence of sleep disturbances, and possibly hallucinations, was associated with increased death risk. Improved recognition of the clinical spectrum and milestones of PSP advances knowledge of the disease, helps earlier diagnosis, and allows prognostic predictions.

  19. Peripheral facial nerve palsy after therapeutic endoscopy.

    PubMed

    Kim, Eun Jeong; Lee, Jun; Lee, Ji Woon; Lee, Jun Hyung; Park, Chol Jin; Kim, Young Dae; Lee, Hyun Jin

    2015-03-01

    Peripheral facial nerve palsy (FNP) is a mononeuropathy that affects the peripheral part of the facial nerve. Primary causes of peripheral FNP remain largely unknown, but detectable causes include systemic infections (viral and others), trauma, ischemia, tumor, and extrinsic compression. Peripheral FNP in relation to extrinsic compression has rarely been described in case reports. Here, we report a case of a 71-year-old man who was diagnosed with peripheral FNP following endoscopic submucosal dissection. This case is the first report of the development of peripheral FNP in a patient undergoing therapeutic endoscopy. We emphasize the fact that physicians should be attentive to the development of peripheral FNP following therapeutic endoscopy.

  20. Concurrent pityriasis rosea and Bell's palsy.

    PubMed

    Voss, Vanessa; Mattox, Adam; Guo, Mary

    2017-01-23

    Pityriasis rosea is a dermatological disease with a well-documented clinical appearance, but less is known about causes and treatment. Bell's palsy is a neurological condition leading to acute idiopathic hemifacial paralysis. Recent studies indicate that human herpesvirus (HHV) 6-7 reactivation may be a contributing factor to both conditions. We report a case of the 2 concurrent diagnoses that supports a common contributing factor and suggests further awareness and research into the role HHV 6-7 may play in the aetiology of both conditions.

  1. Aquatic exercise for children with cerebral palsy.

    PubMed

    Kelly, Michelle; Darrah, Johanna

    2005-12-01

    Exercise for children with cerebral palsy (CP) is gaining popularity among pediatric physical therapists as an intervention choice. Exercise in water appeals to children with CP because of the unique quality of buoyancy of water that reduces joint loading and impact, and decreases the negative influences of poor balance and poor postural control. In this paper, research of land-based exercise and aquatic exercise for children with CP is reviewed. Clinically relevant considerations for aquatic exercise programming for children with CP are discussed.

  2. Determinants of exercise in adults with cerebral palsy.

    PubMed

    Heller, Tamar; Ying Gs, Gui-shuang; Rimmer, James H; Marks, Beth A

    2002-01-01

    This study examined the impact of environmental factors and caregiver attitudes on exercise participation in adults with cerebral palsy using a social-cognitive model. The sample included 83 adults with cerebral palsy (47.0% males and 53.0% females). Hierarchical regression analysis was conducted with exercise frequency as the dependent variable. Independent variables included personal characteristics of persons with cerebral palsy (age, level of mental retardation, health status, mobility, and arm/hand limitation), type of residence, exercise facility access, and caregiver-perceived benefits of exercise for people with cerebral palsy. The significant determinants of exercise participation were the caregiver's perceived benefits of exercise for persons with cerebral palsy and the type of residence. When caregivers perceived greater benefits of exercise, adults with cerebral palsy were likely to exercise more frequently. Non-nursing home residents were more likely to exercise than nursing home residents. This difference was related to differences in the caregivers' perceived benefits of exercise and not because of the personal characteristics of the residents or access to the exercise facility. Results of this study point to the need to inform and educate caregivers about the benefits and importance of exercise for adults with cerebral palsy.

  3. Prognostic factors of Bell's palsy: prospective patient collected observational study.

    PubMed

    Fujiwara, Takashi; Hato, Naohito; Gyo, Kiyofumi; Yanagihara, Naoaki

    2014-07-01

    The purpose of this study was to evaluate various parameters potentially influencing poor prognosis in Bell's palsy and to assess the predictive value for Bell's palsy. A single-center prospective patient collected observation and validation study was conducted. To evaluate the correlation between patient characteristics and poor prognosis, we performed univariate and multivariate analyzes of age, gender, side of palsy, diabetes mellitus, hypertension, and facial grading score 1 week after onset. To evaluate the accuracy of the facial grading score, we prepared a receiver operating characteristic (ROC) curve and calculated the area under the ROC curve (AUROC). We also calculated sensitivity, specificity, positive/negative likelihood ratio, and positive/negative predictive value. We included Bell's palsy patients who attended Ehime University Hospital within 1 week after onset between 1977 and 2011. We excluded patients who were less than 15 years old and lost-to-follow-up within 6 months. The main outcome was defined as non-recovery at 6 months after onset. In total, 679 adults with Bell's palsy were included. The facial grading score at 1 week showed a correlation with non-recovery in the multivariate analysis, although age, gender, side of palsy, diabetes mellitus, and hypertension did not. The AUROC of the facial grading score was 0.793. The Y-system score at 1 week moderate accurately predicted non-recovery at 6 months in Bell's palsy.

  4. Are electrophysiological criteria useful in distinguishing childhood demyelinating neuropathies?

    PubMed

    Potulska-Chromik, Anna; Ryniewicz, Barbara; Aragon-Gawinska, Karolina; Kabzinska, Dagmara; Seroka, Andrzej; Lipowska, Marta; Kaminska, Anna M; Kostera-Pruszczyk, Anna

    2016-03-01

    Childhood chronic inflammatory demyelinating polyneuropathy (CIDP) needs to be differentiated from hereditary neuropathy. We aimed to validate existing CIDP nerve conduction study (NCS) criteria in a group of children with demyelinating neuropathies of chronic or subacute onset. Retrospective analysis of clinical and NCS results in 18 children with CIDP, 7 with hereditary neuropathy with pressure palsy (HNPP), and 24 with Charcot-Marie-Tooth 1a (CMT1a). AAN and EFNS electrodiagnostic CIDP criteria were fulfilled in 17 of 18 CIDP, 3 of 7 HNPP, and 23 of 24 CMT1a patients. A distal compound muscle action potential (dCMAP) of >9 ms was observed in 14 of 18 CIDP patients but not in any patients with HNPP. Abnormal median/normal sural SNAP (AMNS) and a 10 m/s difference between conduction velocities (CV) of two corresponding nerves were not observed in any CMT1a patients. NCS in CMT1a, HNPP, and CIDP reflect demyelination. dCMAP duration, sensory AMNS, and a 10 m/s CV difference parameter are most useful in the differential diagnosis of pediatric CIDP.

  5. Neuralgic Amyotrophy Manifesting as Mimicking Posterior Interosseous Nerve Palsy

    PubMed Central

    Yang, Jin Seo; Kang, Suk Hyung; Choi, Eun Hi

    2015-01-01

    The upper trunk of the brachial plexus is the most common area affected by neuralgic amyotrophy (NA), and paresis of the shoulder girdle muscle is the most prevalent manifestation. Posterior interosseous nerve palsy is a rare presentation in patients with NA. It results in dropped finger on the affected side and may be misdiagnosed as entrapment syndrome or compressive neuropathy. We report an unusual case of NA manifested as PIN palsy and suggest that knowledge of clinical NA phenotypes is crucial for early diagnosis of peripheral nerve palsies. PMID:26713154

  6. [Facial palsy: diagnosis and management by primary care physicians].

    PubMed

    Alvarez, V; Dussoix, P; Gaspoz, J-M

    2009-01-28

    The incidence of facial palsy is about 50/100000/year, i.e. 210 cases/year in Geneva. Clinicians can be puzzled by it, because it encompasses aetiologies with very diverse prognoses. Most patients suffer from Bell palsy that evolves favourably. Some, however, suffer from diseases such as meningitis, HIV infection, Lyme's disease, CVA, that require fast identification because of their severity and of the need for specific treatments. This article proposes an algorithm for pragmatic and evidence-based management of facial palsy.

  7. Common peroneal nerve palsy in a UH-60 aviator.

    PubMed

    McGrail, M A

    1999-06-01

    A case of common peroneal nerve palsy in a UH-60 Blackhawk U.S. Army helicopter pilot is reported. A review of the literature revealed several reports of common peroneal nerve palsy, although there were no published reports of this injury secondary to performing flight duties in the UH-60 cockpit. A common practice among Blackhawk pilots is to brace the "collective" with their left knee, subjecting the common peroneal nerve to possible injury. This action should be considered as a possible cause of common peroneal nerve palsy in this select group of aviators.

  8. Visual disorders associated with cerebral palsy.

    PubMed Central

    Black, P

    1982-01-01

    School children severely afflicted with cerebral palsy, but unselected in regard to their visual status. have been studied. Of 120 children examined only 24 (20%) had normal eyes or ocular adnexae. Squint was found in 52.5% of the children and significant refractive errors in 50%. There was also a high incidence of strabismic and anisometropic amblyopia (15%) and visual field defects (11%). A number of other ocular abnormalities were found, the majority of which were not amenable to any form of treatment. Early identification of treatable ocular defects and their treatment along conventional lines is emphasised. It is also important to identify untreatable defects that may have a bearing on the child's education. These children need all the help available, and visual function should be at its best. A diagnosis of cerebral palsy has usually been made by the time such a child reaches 18 months of age. In view of the high incidence of ocular defects a full ophthalmological assessment should be part of the routine assessment of the child. PMID:7055543

  9. Birthweight specific trends in cerebral palsy.

    PubMed Central

    Pharoah, P O; Cooke, T; Cooke, R W; Rosenbloom, L

    1990-01-01

    A register of infants with cerebral palsy born to mothers resident in the Mersey region from 1967-84 has been maintained using various sources of information. A total of 1056 patients are registered of whom 331 (31%) have hemiplegia or mixed hemiplegia, 236 (22%) have diplegias or mixed diplegia, and 369 (35%) have quadriplegia or mixed quadriplegia. The remainder have dyskinetic or dystonic forms except for seven, who are unclassified. There has been no significant change in the prevalence of cerebral palsy among infants of normal birth weight (greater than 2500 g). Among low birthweight infants (less than or equal to 2500 g) there has been a significant increase in prevalence of all the main clinical types. This increase started later among the very low birthweight infants (less than or equal to 1500 g) than among those weighing 1501-2500 g. These changes in prevalence could be the result of either improved survival of prenatally impaired infants because of improvements in medical care, or a reflection of failure to maintain optimal conditions at or around the time of birth. PMID:2378516

  10. Evaluation of facial palsy by moire topography

    NASA Astrophysics Data System (ADS)

    Inokuchi, Ikuo; Kawakami, Shinichiro; Maeta, Manabu; Masuda, Yu

    1991-08-01

    Society of Facial Research is used frequently. It is of great value clinically, but the method has several weak points concerning objective and quantitative assessment. This study uses moire topography to solve these problems. mA moire camera, FM3013, of the lattice irradiation type was used for measurement of the face. Five moire photographs were taken: at rest, wrinkling the forehead, closing the eyes lightly, blowing out the cheeks and grinning. The degree of facial palsy was determined by the Asymmetry Index (AI) as a measure of the degree of facial deviation. Total AI was expressed as the average AI based on calculations of the measurement in 5 photos. Severe paralysis is represented by an AI of more than 20%. Partial paralysis has a range of 20-8%. Nearly normal is judged to be less than 8%. Ten normal individuals are measured as control and show an AI of 3% or less. Moire topography is useful in assessing the recovery process because it has the benefit of making the site and grade of palsy easily achieved by the AI and the deviation in its patterns. The authors propose that the moire method is better for an objective and quantitative evaluation than the society's method.

  11. Bell's palsy and parenteral inactivated influenza vaccine.

    PubMed

    Stowe, Julia; Andrews, Nick; Wise, Lesley; Miller, Elizabeth

    2006-01-01

    Concern about a possible increased risk of Bell's palsy after parenteral inactivated influenza vaccine was raised following the publication in 2004 of a Swiss study in which there was an increased risk following the nasal inactivated formulation of the vaccine. When data from passive reporting systems in the United States and the United Kingdom were examined there was some evidence of increased reporting following the parenteral vaccine. A large population based study using the General Practice Research Database (GPRD) was therefore performed to test the hypothesis that there was an increased risk of Bell's palsy in the three months following parenteral inactivated influenza vaccine. The risk was also assessed for the same period following pneumococcal vaccine and was stratified into three age groups (<45, 45-64 and 65+ years). Relative incidence (RI) estimates were calculated using the self-controlled case-series method and showed no evidence of an increased risk in the three months following parenteral inactivated influenza vaccine RI 0.92 (95% confidence interval 0.78-1.08). There was also no evidence of an increased risk in any age group or following pneumococcal vaccine. A significant increase was seen on the day of vaccination (day 0) probably due to opportunistic recording of cases.

  12. Health-related physical fitness for children with cerebral palsy

    PubMed Central

    Maltais, Désirée B.; Wiart, Lesley; Fowler, Eileen; Verschuren, Olaf; Damiano, Diane L.

    2014-01-01

    Low levels of physical activity are a global health concern for all children. Children with cerebral palsy have even lower physical activity levels than their typically developing peers. Low levels of physical activity, and thus an increased risk for related chronic diseases, are associated with deficits in health-related physical fitness. Recent research has provided therapists with the resources to effectively perform physical fitness testing and physical activity training in clinical settings with children who have cerebral palsy, although most testing and training data to date pertains to those who walk. Nevertheless, based on the present evidence, all children with cerebral palsy should engage, to the extent they are able, in aerobic, anaerobic and muscle strengthening activities. Future research is required to determine the best ways to evaluate health-related physical fitness in non-ambulatory children with cerebral palsy and foster long-term changes in physical activity behavior in all children with this condition. PMID:24820339

  13. Cerebral Palsy Checklist: Teens & Young Adult (13 to 21)

    MedlinePlus

    ... disabilities are more likely to be victims of sexual assault. So it's important to talk with your child ... Checklist: Babies & Preschoolers Cerebral Palsy: A Parent's Guide (Video) Contact Us Print Resources Send to a Friend ...

  14. Not all facial paralysis is Bell's palsy: a case report.

    PubMed

    Brach, J S; VanSwearingen, J M

    1999-07-01

    Bell's palsy or idiopathic facial paralysis is the most common cause of unilateral facial paralysis. This case report describes a patient referred for physical therapy evaluation and treatment with a diagnosis of Bell's palsy. On initial presentation in physical therapy the patient had unilateral facial paralysis, ipsilateral regional facial pain and numbness, and a history of a gradual, progressive onset of symptoms. The process of evaluating this patient in physical therapy, as well as the recognition of signs and symptoms typical and atypical of Bell's palsy, are described. This report emphasizes the importance of early recognition of the signs and symptoms inconsistent with a diagnosis of Bell's palsy, and indications for prompt, appropriate referral for additional diagnostic services.

  15. Speech Performance, Dysphagia and Oral Reflexes in Cerebral Palsy.

    ERIC Educational Resources Information Center

    Love, Russell J.; And Others

    1980-01-01

    The adequacy of biting, sucking, swallowing, and chewing as well as the presence or absence of nine infantile oral reflexes were assessed in 60 cerebral palsied individuals (ages 3 to 23). (Author/PHR)

  16. Isolated index finger palsy due to cortical infarction.

    PubMed

    Kawabata, Yuichi; Miyaji, Yosuke; Joki, Hideto; Seki, Syunsuke; Mori, Kentaro; Kamide, Tomoya; Tamase, Akira; Nomura, Motohiro; Kitamura, Yoshihisa; Tanaka, Fumiaki

    2014-01-01

    The case of an 86-year-old man presenting with isolated left index finger palsy caused by infarction on the lateral side of the right precentral knob is presented. Embolization from aortic atheroma was considered the cause of infarction. Cases with selective palsy of a particular group of fingers without sensory deficits due to cortical infarction of the precentral knob have been reported by several authors, and predominant weakness of radial-side fingers is known to be usually caused by laterally located infarction of the precentral knob. Among the previous reports, only 1 case involved isolated index finger palsy by an atypical, medially located infarction of the precentral knob in association with a concurrent nonrelated lesion. This is the first reported isolated index finger palsy caused by a single lateral precentral knob infarction.

  17. Cerebral perfusion pressure and abnormal intracranial pressure wave forms: their relation to outcome in birth asphyxia.

    PubMed

    Raju, T N; Vidyasagar, D; Papazafiratou, C

    1981-06-01

    Intracranial pressure (ICP) studies were carried out in 14 infants with severe birth asphyxia and brain damage. A markedly low cerebral perfusion pressure (CPP) was noted in infants who died and in 1 infant who survived with cerebral palsy. The long-term ICP tracing revealed negative waves and plateau waves in 2 infants. Cushing response was noted in 2 infants who had elevated ICP. The value and significance of evaluated CPP and of abnormal waveforms are discussed.

  18. Stability and Harmony of Gait in Children with Cerebral Palsy

    ERIC Educational Resources Information Center

    Iosa, Marco; Marro, Tiziana; Paolucci, Stefano; Morelli, Daniela

    2012-01-01

    The aim of this study was to quantitatively assess the stability and harmony of gait in children with cerebral palsy. Seventeen children with spastic hemiplegia due to cerebral palsy (5.0 [plus or minus] 2.3 years old) who were able to walk autonomously and seventeen age-matched children with typical development (5.7 [plus or minus] 2.5 years old,…

  19. Bell's palsy following primary tooth extraction. A case report.

    PubMed

    Owsley, David; Goldsmith, Jay P

    2012-04-01

    Bell's palsy is characterized by acute peripheral facial nerve paralysis. Unilateral paralysis of CN 7 is reported in 20 to 30 people out of 100,000 in the general population. It affects individuals of all ages. Most cases are idiopathic, while a few are identified as resulting from infectious or non-infectious causes. The association between herpes simplex virus-1 (HSV-1) and Bell's palsy has been considered since the 1970s. Few cases have been reported after tooth extraction.

  20. Postoperative Delayed Cervical Palsies: Understanding the Etiology

    PubMed Central

    Planchard, Ryan F.; Maloney, Patrick R.; Mallory, Grant W.; Puffer, Ross C.; Spinner, Robert J.; Nassr, Ahmad; Fogelson, Jeremy L.; Krauss, William E.; Clarke, Michelle J.

    2016-01-01

    Study Design  Retrospective study. Objective  This study reviews 1,768 consecutive cervical decompressions with or without instrumented fusion to identify patient-specific and procedural risk factors significantly correlated with the development of delayed cervical palsy (DCP). Methods  Baseline demographic and procedural information was collected from the electronic medical record. Particular attention was devoted to reviewing each chart for recognized risk factors of postsurgical inflammatory neuropathy: autoimmune disease, blood transfusions, diabetes, and smoking. Results  Of 1,669 patients, 56 (3.4%) developed a DCP. Although 71% of the palsies involved C5, 55% of palsies were multimyotomal and 18% were bilateral. Significant risk factors on univariate analysis included age (p = 0.0061, odds ratio [OR] = 1.07, 95% confidence interval [CI] 1.008 to 1.050), posterior instrumented fusion (p < 0.0001, OR = 3.30, 95% CI 1.920 to 5.653), prone versus semisitting/sitting position (p = 0.0036, OR = 3.58, 95% CI 1.451 to 11.881), number of operative levels (p < 0.0001, OR = 1.42, 95% CI 1.247 to 1.605), intraoperative transfusions (p = 0.0231, OR = 2.57, 95% CI 1.152 to 5.132), and nonspecific autoimmune disease (p = 0.0107, OR = 3.83, 95% CI 1.418 to 8.730). On multivariate analysis, number of operative levels (p = 0.0053, OR = 1.27, 95% CI 1.075 to 1.496) and nonspecific autoimmune disease (p = 0.0416, OR 2.95, 95% CI 1.047 to 7.092) remained significant. Conclusions  Although this study partially supports a mechanical etiology in the pathogenesis of a DCP, we also describe a notable correlation with autoimmune risk factors. Bilateral and multimyotomal involvement provides additional support that some DCPs may result from an inflammatory response and thus an underlying multifactorial etiology for this complication. PMID:27555999

  1. Delayed and isolated oculomotor nerve palsy following minor head trauma

    PubMed Central

    Nakagawa, Yu; Toda, Masahiro; Shibao, Shunsuke; Yoshida, Kazunari

    2017-01-01

    Background: The purpose of this study was to consider the mechanism of isolated oculomotor nerve palsy after minor head trauma. Case Description: We report a rare case of delayed and isolated oculomotor nerve palsy following minor head trauma. A 19-year-old boy complained of double vision 1 day after a minor head trauma. Neuro-ophthalmic examination showed isolated left oculomotor nerve palsy. Computed tomography and magnetic resonance imaging examination revealed no abnormal findings and steroid therapy was administered for a week. Three months after the injury, the ptosis and extraocular movements had fully resolved, although the pupillary light reflex was still abnormal. Conclusions: Delayed and isolated oculomotor nerve palsy may be caused by an injury at the point where the oculomotor nerve runs over the posterior petroclinoid ligament. Because edema of the damaged oculomotor nerve might result in constriction at the point where the nerve pierces the dura of the cavernous sinus, symptoms of oculomotor nerve palsy appeared late after trauma. Steroid treatment reducing edema could be effective for delayed and isolated oculomotor nerve palsy following minor head trauma. PMID:28217399

  2. Can global positioning systems quantify participation in cerebral palsy?

    PubMed

    Ben-Pazi, Hilla; Barzilay, Yair; Shoval, Noam

    2014-06-01

    This study examined whether motor-related participation could be assessed by global positioning systems in individuals with cerebral palsy. Global positioning systems monitoring devices were given to 2 adolescent girls (14-year-old with diplegic cerebral palsy and her 15-year-old healthy sister). Outcome measures were traveling distances, time spent outdoors, and Children's Assessment of Participation and Enjoyment questionnaires. Global positioning systems documented that the girl with cerebral palsy did not visit nearby friends, spent less time outdoors and traveled shorter distances than her sister (P = .02). Participation questionnaire corroborated that the girl with cerebral palsy performed most activities at home alone. Lower outdoor activity of the girl with cerebral palsy measured by a global positioning system was 29% to 53% of that of her sibling similar to participation questionnaires (44%). Global positioning devices objectively documented low outdoor activity in an adolescent with cerebral palsy compared to her sibling reflecting participation reported by validated questionnaires. Global positioning systems can potentially quantify certain aspects of participation.

  3. Evaluation of postural stability in children with hemiplegic cerebral palsy

    PubMed Central

    Kenis-Coskun, Ozge; Giray, Esra; Eren, Beyhan; Ozkok, Ozlem; Karadag-Saygi, Evrim

    2016-01-01

    [Purpose] Postural stability is the ability of to maintain the position of the body within the support area. This function is affected in cerebral palsy. The aim of the present study was to compare static and dynamic postural stability between children with hemiplegic cerebral palsy and healthy controls. [Subjects and Methods] Thirty-seven children between the ages of 5 and 14 diagnosed with hemiplegic cerebral palsy (19 right, 18 left) and 23 healthy gender- and age-matched controls were included in the study. Postural stability was evaluated in both of the groups using a Neurocom Balance. Sway velocity was measured both with the eyes open and closed. Sit to stand and turning abilities were also assessed. [Results] The sway velocities with the eyes open and closed were significantly different between the groups. The weight transfer time in the Sit to Stand test was also significantly slower in children with cerebral palsy. Children with cerebral palsy also showed slower turning times and greater sway velocities during the Step and Quick Turn test on a force plate compared with their healthy counterparts. [Conclusion] Both static and dynamic postural stability parameters are affected in hemiplegic cerebral palsy. Further research is needed to define rehabilitation interventions to improve these parameters in patients. PMID:27313338

  4. [Circulatory effects of stellate ganglion block in idiopathic facial palsy].

    PubMed

    Murakawa, K; Ishimoto, E; Noma, K; Ishida, K; Nishijima, M; Izumi, R

    1994-03-01

    The circulatory effects of stellate ganglion block (SGB) on the blood flow through the common carotid artery were determined in 35 patients in acute phase of idiopathic facial palsy (Bell's palsy). SGB was performed by para-tracheal approach with 8 ml of 1% mepivacaine. The blood flow was measured with an ultrasonic blood flowmeter before and 30 minutes after SGB at both sides of the common carotid artery in 20 cases. Measurement was performed continuously for 90 minutes on the palsy side in the other 15 patients. Before SGB, there were no significant differences between the blood flow of the palsy side and the intact side. Thirty minutes after SGB, the blood flow markedly increased to 169.4 +/- 6.2% on the performed side with no change on the non-performed side in 20 cases. In the other 15 patients, the blood flow increased significantly 5 minutes after SGB and reached its peak of 179.7 +/- 11.1% at 20 minutes later. This increase continued for 75 minutes after SGB. It is well known that impaired microcirculation in the facial nerve has an important role in the pathophysiology of Bell's palsy. In view of the fact that the nutrient arteries for the facial nerve are the peripheral branches of the external carotid artery, we believe that SGB which causes significant increase in the blood flow through the common carotid artery is an effective treatment in Bell's palsy.

  5. The epidemiology and treatment of Bell's palsy in the UK.

    PubMed

    Rowlands, S; Hooper, R; Hughes, R; Burney, P

    2002-01-01

    The study consisted of a survey of all new cases of Bell's palsy occurring between 1992 and 1996 in practices contributing data to the UK General Practice Research Database (GPRD). Data were extracted on age, sex, date of episode of Bell's palsy, household number, episodes of herpes simplex, treatment prescribed and referral to relevant hospital departments. A total of 2473 cases of Bell's palsy were identified. The overall incidence for the study period was 20.2 per 100 000 person years of follow-up (95% CI 19.4-21.0). Incidence increased with age. There was no difference in incidence according to sex or season but there were significant changes over time: incidence was higher in the first year of the study period than in subsequent years. There was no clustering of cases in households and no evidence of any tendency for herpes simplex infections to precede Bell's palsy. About 36% of cases were treated with oral steroids and 19% of episodes resulted in hospital referral. In conclusion, Bell's palsy is seen mainly in a primary care setting. The majority of cases are treated expectantly without drugs. Lack of household clustering and lack of a tendency of herpes simplex infections to precede Bell's palsy do not support a viral aetiology.

  6. Clinical Approach to Progressive Supranuclear Palsy

    PubMed Central

    Ling, Helen

    2016-01-01

    Sixty years ago, Steele, Richardson and Olszewski designated progressive supranuclear palsy (PSP) as a new clinicopathological entity in their seminal paper. Since then, in addition to the classic Richardson’s syndrome (RS), different clinical phenotypic presentations have been linked with this four-repeat tauopathy. The clinical heterogeneity is associated with variability of regional distribution and severity of abnormal tau accumulation and neuronal loss. In PSP subtypes, the presence of certain clinical pointers may be useful for antemortem prediction of the underlying PSP-tau pathology. Midbrain atrophy on conventional MRI correlates with the clinical phenotype of RS but is not predictive of PSP pathology. Cerebrospinal fluid biomarkers and tau ligand positron emission tomography are promising biomarkers of PSP. A multidisciplinary approach to meet the patients’ complex needs is the current core treatment strategy for this devastating disorder. PMID:26828211

  7. Dental health of children with cerebral palsy

    PubMed Central

    Jan, Basil M.; Jan, Mohammed M.

    2016-01-01

    Cerebral palsy (CP) is a common chronic motor disorder with associated cognitive, communicative, and seizure disorders. Children with CP have a higher risk of dental problems creating significant morbidity that can further affect their wellbeing and negatively impact their quality of life. Screening for dental disease should be part of the initial assessment of any child with CP. The objective of this article is to present an updated overview of dental health issues in children with CP and outline important preventative and practical strategies to the management of this common comorbidity. Providing adequate oral care requires adaptation of special dental skills to help families manage the ongoing health issues that may arise. As oral health is increasingly recognized as a foundation for general wellbeing, caregivers for CP patients should be considered an important component of the oral health team and must become knowledgeable and competent in home oral health practices. PMID:27744459

  8. Complementary and alternative therapies for cerebral palsy.

    PubMed

    Liptak, Gregory S

    2005-01-01

    The optimal practice of medicine includes integrating individual clinical expertise with the best available clinical evidence from systematic research. This article reviews nine treatment modalities used for children who have cerebral palsy (CP), including hyperbaric oxygen, the Adeli Suit, patterning, electrical stimulation, conductive education, equine-assisted therapy, craniosacral therapy, Feldenkrais therapy, and acupuncture. Unfortunately, these modalities have different degrees of published evidence to support or refute their effectiveness. Uncontrolled and controlled trials of hippotherapy have shown beneficial effects on body structures and functioning. Studies of acupuncture are promising, but more studies are required before specific recommendations can be made. Most studies of patterning have been negative and its use cannot be recommended. However, for the other interventions, such as hyperbaric oxygen, more evidence is required before recommendations can be made. The individual with CP and his or her family have a right to full disclosure of all possible treatment options and whatever knowledge currently is available regarding these therapies.

  9. Rate of decline in progressive supranuclear palsy.

    PubMed

    Litvan, Irene; Kong, Maiying

    2014-04-01

    The rate of patients' decline is critical to properly design trials of disease-modifying agents. We prospectively quantified the progression of 27 progressive supranuclear palsy (PSP) patients for at least 1 year to determine the rate of decline of motor, ocular-motor, neuropsychological, and neuropsychiatric features. PSP patients meeting the National Institute of Neurological Disorders and the Society for Progressive Supranuclear Palsy criteria were assessed using the PSP Rating Scale (PSP-RS) and modified UPDRS. The Mini-Mental State Examination (MMSE) and Frontal Assessment Battery assessed cognitive decline, the Neuropsychiatric Inventory assessed behavior, and the modified Schwab and England scale and UPDRS ADL assessed activities of daily living (ADL). The rate of change of each score was calculated as 1-year worsening score. Power and sample sizes were estimated. PSP patients showed a significant yearly decline in total and subtotal scores of the PSP-RS and UPDRS, as well as in MMSE, and UPDRS and Schwab and England ADL scores. In addition, they had significant deterioration of individual item scores reflecting major aspects of the disease (i.e., ocular-motor). The rate of decline reflected in the UPDRS mirrored that of the PSP-RS. The worsening of the ADL score was positively correlated with the PSP-RS progression of falls and ocular-motor subitem scores and with executive dysfunction. PSP patients showed a significant yearly decline in motor, ocular-motor, and ADL functions. Our findings suggest that using more-advanced technology to measure ocular-motor, postural instability, and ADL will be helpful in planning future therapeutic trials.

  10. Predicting postoperative gait in cerebral palsy.

    PubMed

    Galarraga C, Omar A; Vigneron, Vincent; Dorizzi, Bernadette; Khouri, Néjib; Desailly, Eric

    2016-11-09

    In this work, postoperative lower limb kinematics are predicted with respect to preoperative kinematics, physical examination and surgery data. Data of 115 children with cerebral palsy that have undergone single-event multilevel surgery were considered. Preoperative data dimension was reduced utilizing principal component analysis. Then, multiple linear regressions with 80% confidence intervals were performed between postoperative kinematics and bilateral preoperative kinematics, 36 physical examination variables and combinations of 9 different surgical procedures. The mean prediction errors on test vary from 4° (pelvic obliquity and hip adduction) to 10° (hip rotation and foot progression), depending on the kinematic angle. The unilateral mean sizes of the confidence intervals vary from 5° to 15°. Frontal plane angles are predicted with the lowest errors, however the same performance is achieved when considering the postoperative average signals. Sagittal plane angles are better predicted than transverse plane angles, with statistical differences with respect to the average postoperative kinematics for both plane's angles except for ankle dorsiflexion. The mean prediction errors are smaller than the variability of gait parameters in cerebral palsy. The performance of the system is independent of the preoperative state severity of the patient. Even if the system is not yet accurate enough to define a surgery plan, it shows an unbiased estimation of the most likely outcome, which can be useful for both the clinician and the patient. More patients' data are necessary for improving the precision of the model in order to predict the kinematic outcome of a large number of possible surgeries and gait patterns.

  11. [Case of pontine infarction causing alternating hemiplegia with ipsilateral abducens nerve palsy and contralateral supranuclear facial nerve palsy].

    PubMed

    Ogawa, Katsuhiko; Tougou, Masaki; Oishi, Minoru; Kamei, Satoshi; Mizutani, Tomohiko

    2008-02-01

    We report a 73-year-old man with alternating abducent hemiplegia (Raymond syndrome) and contralateral supranuclear facial nerve palsy. On admission, he showed lateral gaze palsy of the right eye, left supranuclear facial nerve palsy, dysarthria and left hemiparesis. Brain MRI showed an infarct that was located in the paramedian and lateral area in the base of the caudal pons on the right side. MRA showed a mild stenosis of the basilar artery. Hemiplegia and supranuclear facial nerve palsy were considered to be caused by the involvement of corticospinal tract and corticobulbar tract that run at the ventromedial area of the pons. Abducens nerve palsy was considered to be caused by the involvement of infranuclear abducens nerve fibers. There has been one previously reported case of Raymond syndrome in which MRI determined the precise location of the lesion. In this case, a small hematoma was found at the ventral and medial pontomedullary junction, whereas the infarct in our case was located in the pontine base. We considered that documentation of our case was an important contribution to determine the pathogenesis of supranuclear facial nerve palsy due to caudal pontine lesions.

  12. Partial relapse of Bell's palsy following superficial radiotherapy to a basal cell carcinoma in the temple.

    PubMed

    Brincat, S; Mantell, B S

    1986-07-01

    A patient who developed a partial relapse of Bell's palsy following superficial radiotherapy to a basal cell carcinoma in the temple is reported. Nerves injured by Bell's palsy may be more susceptible to radiation induced damage.

  13. Cerebral Palsy. Fact Sheet = La Paralisis Cerebral. Hojas Informativas Sobre Discapacidades.

    ERIC Educational Resources Information Center

    National Information Center for Children and Youth with Disabilities, Washington, DC.

    This fact sheet on cerebral palsy is written in both English and Spanish. First, it provides a definition of cerebral palsy and considers various causes (e.g., an insufficient amount of oxygen reaching the fetal or newborn brain). The fact sheet then offers incidence figures and explains characteristics of the three main types of cerebral palsy:…

  14. Gait training facilitates central drive to ankle dorsiflexors in children with cerebral palsy.

    PubMed

    Willerslev-Olsen, Maria; Petersen, Tue Hvass; Farmer, Simon Francis; Nielsen, Jens Bo

    2015-03-01

    Foot drop and toe walking are frequent concerns in children with cerebral palsy. The main underlying cause of these problems is early damage and lack of maturation of the corticospinal tract. In the present study we investigated whether 4 weeks of daily treadmill training with an incline may facilitate corticospinal transmission and improve the control of the ankle joint in children with cerebral palsy. Sixteen children with cerebral palsy (Gross Motor Classification System I:6, II:6, III:4) aged 5-14 years old, were recruited for the study. Evaluation of gait ability and intramuscular coherence was made twice before and twice after training with an interval of 1 month. Gait kinematics were recorded by 3D video analysis during treadmill walking with a velocity chosen by the child at the first evaluation. Foot pressure was measured by force sensitive foot soles during treadmill and over ground walking. EMG-EMG coherence was calculated from two separate electrode recordings placed over the tibialis anterior muscle. Training involved 30 min of walking daily on a treadmill with an incline for 30 days. Gait training was accompanied by significant increases in gait speed, incline on the treadmill, the maximal voluntary dorsiflexion torque, the number and amplitude of toe lifts late in the swing phase during gait and the weight exerted on the heel during the early stance phase of the gait cycle. EMG-EMG coherence in the beta and gamma frequency bands recorded from tibialis anterior muscle increased significantly when compared to coherence before training. The largest changes in coherence with training were observed for children <10 years of age. Importantly, in contrast to training-induced EMG increases, the increase in coherence was maintained at the follow-up measurement 1 month after training. Changes in the strength of coherence in the beta and gamma band were positively correlated with improvements in the subjects' ability to lift the toes in the swing phase. These

  15. Dependence of Gait Deviation on Weight-Bearing Asymmetry and Postural Instability in Children with Unilateral Cerebral Palsy

    PubMed Central

    Domagalska-Szopa, Małgorzata; Szopa, Andrzej; Czamara, Andrzej

    2016-01-01

    Postural control deficits have been suggested to be a major component of gait disorders in children with cerebral palsy. The purpose of this study was to investigate the relationship between postural stability and treadmill walking, in children with unilateral cerebral palsy, by defining dependence between the posturographic weight-bearing distribution and center of pressure (CoP) sway during quiet standing with Gillette Gait Index and the 16 distinct gait parameters that composed the Gillette Gait Index. Forty-five children with unilateral cerebral palsy from 7–12 years of age were included in this study. A posturographic procedure and 3-dimensional instrumented gait analysis was developed. In general, across the entire tested group, the significant correlations concerned only the asymmetry of the weight bearing and a few of the distinct gait parameters that compose the Gillette Gait Index; moreover, correlation coefficients were low. The division of subjects into two clinical subgroups: children that exhibited a tendency to overload (1) and to underload (2) the affected body side, modified the results of the explored relationships. Our findings revealed that the difficulties experienced by children with hemiplegia while controlled in a standing position result from tendency to excessively or insufficiently load the affected lower limbs, and thus establishes a direct relationship with inadequate affected peak ankle DF in both stance and swing gait phases. Given the presented relationship between postural instability and deviation of the particular gait parameters in children with unilateral cerebral palsy, a follow-up study will be needed to determine the therapeutic approaches that will be most effective in promoting increased improvement in gait pattern, as well as the static and dynamic balance in standing. PMID:27788247

  16. Progressive supranuclear palsy presenting as primary lateral sclerosis but lacking parkinsonism, gaze palsy, aphasia, or dementia.

    PubMed

    Nagao, Shigeto; Yokota, Osamu; Nanba, Reiko; Takata, Hiroshi; Haraguchi, Takashi; Ishizu, Hideki; Ikeda, Chikako; Takeda, Naoya; Oshima, Etsuko; Sakane, Katsuaki; Terada, Seishi; Ihara, Yuetsu; Uchitomi, Yosuke

    2012-12-15

    We report an autopsy case of progressive supranuclear palsy (PSP) that clinically showed only slowly progressive and symmetric upper motor neuron syndrome over a disease course of 12 years. A female patient initially exhibited dysarthria at the age of 65, followed by gait disturbance and dysphagia. Neurological examination at age 67 disclosed pseudobulbar palsy, spastic gait, hyperreflexia, and presence of bilateral Hoffmann and Babinski signs. However, muscle atrophy, weakness, evidence of denervation on electromyography, vertical gaze palsy, parkinsonism, gait freezing, aphasia, speech apraxia, or dementia was not noted throughout the course. She was clinically diagnosed as having motor neuron disease consistent with so-called primary lateral sclerosis. Pathological examination disclosed histopathological features of PSP, including argyrophilic and tau-positive tufted astrocytes, neurofibrillary tangles, coiled bodies, and thread-like processes in the motor cortex and superior frontal gyrus, and to a lesser degree, in the basal ganglia and brain stem nuclei. In addition, severe fibrillary gliosis was noted in the precentral gyrus and corticospinal tract, being consistent with upper motor neuron syndrome observed in this case. No TAR-DNA binding protein 43-positive lesion, FUS pathology, Bunina body, or Lewy body-like hyaline inclusion was noted in the motor cortex or lower motor neurons. These findings suggest that when tau pathology is prominent in the motor cortex but is minimal in the basal ganglia and brain stem nuclei, a PSP case can lack all classic clinical features of PSP and show only slowly progressive upper motor syndrome, consistent with clinical picture of primary lateral sclerosis.

  17. Anticipatory postural adjustments associated with a loading perturbation in children with hemiplegic and diplegic cerebral palsy.

    PubMed

    Shiratori, T; Girolami, G L; Aruin, A S

    2016-10-01

    Anticipatory postural adjustments (APAs) in preparation for predictable externally induced loading perturbation were studied in children with typically development (TD), hemiplegic (HEMI), and diplegic (DIPL) cerebral palsy. Twenty-seven children (n = 9 in each group) were asked to stand and catch a load dropped from a pre-specified height. Electrical activity of the leg and trunk muscles and center of pressure (COP) displacements were recorded to quantify the APAs. All groups were able to generate APAs prior to the perturbation, but the magnitude was smaller and the onset was delayed in the dorsal (agonist) postural muscles in both HEMI and DIPL as compared to TD. HEMI and DIPL also generated APAs in the antagonist postural muscles. Anticipatory backward COP displacement was significantly different from the baseline value only in the TD and HEMI. HEMI and DIPL displayed a different postural control strategy; HEMI showed no difference in background postural activity from TD, but with diminished APAs in the agonist postural muscles compared to TD, while DIPL showed a higher background postural activity and diminished APAs in the agonist postural muscles compared to TD. These differences are important to consider when designing rehabilitation programs to improve posture and movement control in children with hemiplegic and diplegic cerebral palsy.

  18. Laser Phototherapy As Modality of Clinical Treatment in Bell's Palsy

    NASA Astrophysics Data System (ADS)

    Marques, A. M. C.; Soares, L. G. P.; Marques, R. C.; Pinheiro, A. L. B.; Dent, M.

    2011-08-01

    Bell's palsy is defined as a peripheral facial nerve palsy, idiophatic, and sudden onset and is considered the most common cause of this pathology. It is caused by damage to cranial nerves VII, resulting in complete or partial paralysis of the facial mimic. May be associated with taste disturbances, salivation, tearing and hyperacusis. It is diagnosed after ruling out all possible etiologies, because its cause is not fully understood.Some researches shows that herpes virus may cause this type of palsy due to reactivation of the virus or by imunnomediated post-viral nerve demielinization. Physical therapy, corticosteroids and antiviral therapy have become the most widely accepted treatments for Bell's palsy. Therapy with low-level laser (LLLT) may induce the metabolism of injured nerve tissue for the production of proteins associated with its growth and to improve nerve regeneration. The success of the treatment of Bell's palsy by using laser phototherapy isolated or in association with other therapeutic approach has been reported on the literature. In most cases, the recovery occurs without uneventfully (complications), the acute illness is not associated with serious disorders. We will present a clinical approach for treating this condition.

  19. The Role of Information Systems to Manage Cerebral Palsy.

    PubMed

    Ajami, Sima; Maghsoudlorad, Ali Akbar

    2016-01-01

    Objective In healthcare system, it is necessary to have exact and accurate information in order to address health care needs and requirements of society members as well as expectations of policy makers, planners and decision makers. The aim of this narrative review article was to explain the role of information systems in cerebral palsy management and identify the advantages and barriers to the development of cerebral palsy registry system. Data were collected using databases such as of Science Direct, PubMed, Proquest, Springer, and SID (Scientific Information Database). Overall, 65 sources were selected. One of the biggest challenges for children with physical and motor disabilities in rehabilitation center is access to a system, which provides a comprehensive data set reflecting all information on a patient's care. Thus, data and information management in children with physical and motor disability such as cerebral palsy facilitates access to data and cerebral palsy data comparison as well as the monitoring incidence rate of cerebral palsy, enhancing health care quality; however, there are always numerous barriers to establish the system. One of the ways to overcome these problems is the establishment of a standard framework of minimum data sets and exact definition of its data components. Reliable standards in the use of applications as well as user-friendly software will ensure patients' data extraction and registration.

  20. Whole body vibration and cerebral palsy: a systematic review

    PubMed Central

    Duquette, Sean A.; Guiliano, Anthony M.; Starmer, David J.

    2015-01-01

    Purpose: The goal of this review is to evaluate the effects of whole body vibration on outcomes in patients with cerebral palsy. The findings in this review may help clinicians make evidence informed decisions on the use of whole body vibration for cerebral palsy. Methods: A systematic search was conducted on April 29, 2014.The following search terms were used to search of several databases: (whole body vibration OR whole-body vibration OR whole body-vibration OR WBV) AND (cerebral palsy). Articles that met the inclusion criteria were assessed using the Scottish intercollegiate guidelines network (SIGN) rating system to assess the methodology and bias of the articles for randomized control trials. Results: The search produced 25 articles, of which 12 duplicates were identified and removed. Another seven articles were not considered since they did not fit the inclusion criteria, leaving a total of five studies for review. Four of the articles analyzed the effects of WBV in children while the other study focused on adults with cerebral palsy. There was one low quality article, four acceptable quality articles and one high quality article when assessed using the SIGN criteria. Conclusions: It appears that whole body vibration has the potential to provide symptomatic relief for patients with cerebral palsy. Whole body vibration may improve spasticity, muscle strength and coordination. There is a lack of research to conclusively determine whether it does alter bone mineral density. PMID:26500358

  1. Bell's palsy: aetiology, clinical features and multidisciplinary care.

    PubMed

    Eviston, Timothy J; Croxson, Glen R; Kennedy, Peter G E; Hadlock, Tessa; Krishnan, Arun V

    2015-12-01

    Bell's palsy is a common cranial neuropathy causing acute unilateral lower motor neuron facial paralysis. Immune, infective and ischaemic mechanisms are all potential contributors to the development of Bell's palsy, but the precise cause remains unclear. Advancements in the understanding of intra-axonal signal molecules and the molecular mechanisms underpinning Wallerian degeneration may further delineate its pathogenesis along with in vitro studies of virus-axon interactions. Recently published guidelines for the acute treatment of Bell's palsy advocate for steroid monotherapy, although controversy exists over whether combined corticosteroids and antivirals may possibly have a beneficial role in select cases of severe Bell's palsy. For those with longstanding sequaelae from incomplete recovery, aesthetic, functional (nasal patency, eye closure, speech and swallowing) and psychological considerations need to be addressed by the treating team. Increasingly, multidisciplinary collaboration between interested clinicians from a wide variety of subspecialties has proven effective. A patient centred approach utilising physiotherapy, targeted botulinum toxin injection and selective surgical intervention has reduced the burden of long-term disability in facial palsy.

  2. Medical treatment of Bell's palsy. Oral vs. intravenous administration.

    PubMed

    Tani, M; Kinishi, M; Takahara, T; Hosomi, H; Amatsu, M

    1988-01-01

    Infusion therapy using low-molecular dextran in combination with high-dose cortisone was modified from Stennert's original protocol and indicated in 50 cases of Bell's palsy. The effects of infusion were compared with the outcome in 36 cases treated by orally-administered steroids and vasodilators. In the case of incomplete palsy, the recovery rate was excellent regardless of the mode of treatment. If the palsy is not progressive, it is not necessary for patients with this condition to have infusion therapy. In the case of complete palsy, 95% of those with normal nerve excitability (NE) experienced complete recovery when treated by infusion. However, only 71% of this group experienced complete recovery when treated with oral administration. In the group with diminished or absent NE, complete recovery was obtained in 58% of the patients treated with infusion, whereas only 18% recovered completely when given oral administration. Thus, the recovery rate increased sharply in the case of infusion therapy. Therefore, the above-mentioned method of infusion therapy is indicated in cases of complete or progressively incomplete Bell's palsy except in those cases where its use is contra-indicated for some other reason.

  3. Frontal deficits differentiate progressive supranuclear palsy from Parkinson's disease.

    PubMed

    Lee, Young-Eun C; Williams, David R; Anderson, Jacqueline F I

    2016-03-01

    The clinical differentiation of progressive supranuclear palsy from Parkinson's disease can be challenging, due to overlapping clinical features and a lack of diagnostic markers. Abnormalities in cognitive function form part of the clinical spectrums of these diseases and distinctive cognitive profiles may be helpful in differentiating these diseases in the diagnostic period. A comprehensive neuropsychological test battery was administered to 12 patients with clinically diagnosed progressive supranuclear palsy and 12 patients with Parkinson's disease matched for age and disease duration. Effect size (Cohen's d) was calculated for cognitive tests that were significantly different between groups. Patients with progressive supranuclear palsy performed significantly worse than those with Parkinson's disease on measures of processing speed, verbal fluency, planning, verbal abstract reasoning, verbal memory, and made more perseverative responses on a set shifting task. Measures of executive function, manual dexterity and processing speed were most diagnostically useful (Cohen's d > 2.0) in differentiating between progressive supranuclear palsy and Parkinson's disease. These findings suggest that more severe and prominent 'frontal' cognitive deficits in patients with progressive parkinsonism would be helpful in predicting progressive supranuclear palsy rather than Parkinson's disease and these findings may contribute to the development of diagnostic criteria.

  4. Sleep disorders in children with cerebral palsy: An integrative review.

    PubMed

    Lélis, Ana Luíza P A; Cardoso, Maria Vera L M; Hall, Wendy A

    2016-12-01

    Sleep disorders are more prevalent in children with cerebral palsy. The review aimed to identify and synthesize information about the nature of sleep disorders and their related factors in children with cerebral palsy. We performed an electronic search by using the search terms sleep/child*, and sleep/cerebral palsy in the following databases: Latin American literature on health sciences, SCOPUS, medical publications, cumulative index to nursing and allied health literature, psycinfo, worldcat, web of science, and the Cochrane library. The selection criteria were studies: available in Portuguese, English or Spanish and published between 2004 and 2014, with results addressing sleep disorders in children (ages 0-18 y) with a diagnosis of cerebral palsy. 36,361 abstracts were identified. Of those, 37 papers were selected, and 25 excluded. Twelve papers were incorporated in the study sample: eight quantitative studies, three reviews, and one case study. Eleven types of sleep disorders were identified, such as difficult morning awakening, insomnia, nightmares, difficulties in initiating and maintaining nighttime sleep (night waking), and sleep anxiety. Twenty-one factors were linked to sleep disorders, which we classified as intrinsic factors associated with common comorbidities accompanying cerebral palsy, and extrinsic aspects, specifically environmental and socio-familial variables, and clinical-surgical and pharmacological interventions.

  5. The Role of Information Systems to Manage Cerebral Palsy

    PubMed Central

    AJAMI, Sima; MAGHSOUDLORAD, Ali Akbar

    2016-01-01

    Objective In healthcare system, it is necessary to have exact and accurate information in order to address health care needs and requirements of society members as well as expectations of policy makers, planners and decision makers. The aim of this narrative review article was to explain the role of information systems in cerebral palsy management and identify the advantages and barriers to the development of cerebral palsy registry system. Data were collected using databases such as of Science Direct, PubMed, Proquest, Springer, and SID (Scientific Information Database). Overall, 65 sources were selected. One of the biggest challenges for children with physical and motor disabilities in rehabilitation center is access to a system, which provides a comprehensive data set reflecting all information on a patient’s care. Thus, data and information management in children with physical and motor disability such as cerebral palsy facilitates access to data and cerebral palsy data comparison as well as the monitoring incidence rate of cerebral palsy, enhancing health care quality; however, there are always numerous barriers to establish the system. One of the ways to overcome these problems is the establishment of a standard framework of minimum data sets and exact definition of its data components. Reliable standards in the use of applications as well as user-friendly software will ensure patients’ data extraction and registration. PMID:27247578

  6. Acute peripheral facial palsy: is there a trigeminal nerve involvement?

    PubMed

    Uluduz, Derya; Kiziltan, Meral E; Akalin, Mehmet Ali

    2010-07-26

    The aim of this study was to investigate trigeminal nerve involvement in patients with peripheral facial palsy. In total, 25 patients with facial nerve palsy and 19 controls were tested by electrophysiological methods regarding their facial and trigeminal nerve functions within 1 month after disease onset. The presence of an abnormal blink reflex was determined in patients with peripheral facial palsy by comparing paralytic and non-paralytic sides (12.3+/-1.1 and 10.8+/-1.3, respectively; p=0.001). However, the average masseter inhibitory reflex difference between the paretic and non-paralytic sides of patients compared with the corresponding side-to-side comparison for controls was not statistically significant. The masseter inhibitory reflex response was abnormal in some cases. These findings suggest that the masseter inhibitory reflex, a trigemino-trigeminal reflex, was normal in most of our patients with peripheral facial palsy, but may be abnormal in individual cases. Our study showed that subclinical disorders affecting the trigeminal pathways occur in individual patients with idiopathic facial palsy, while the majority of patients have no trigeminal nerve involvement.

  7. Bell's palsy may have relations to bacterial infection.

    PubMed

    Liu, Jiaqiang; Li, Yongming; Yuan, Xiao; Lin, Zhu

    2009-02-01

    Bell's palsy is the most common acute facial paralysis with its causes still unclear. At present, the most widely accepted causes are viral infections, trauma, surgery, diabetes, local infections, tumor, immunological disorders, or drugs. Unclear causes lead to unidentified treatments. Most therapeutic methods are simply symptomatic treatment. Fortunately, the pathomechanism of Bell's palsy is relative clear, involving herpes simplex virus (HSV) reactivation within the geniculate ganglion, followed by inflammation and entrapment of the nerve in the bony foramen. This makes symptomatic treatment possible. But the therapeutic effects are not quite satisfactory. Therefore, novel etiological and therapeutic concepts are urgently needed. According to our clinical observation and some facts that do not favor the viral infections theory, we can conclude that all Bell's palsy is not related to viral infections, some even may have relations to bacterial infection. As far as blood routine examination is concerned, though lymphocyte increasing can be seen in most patients with Bell's palsy, there are cases with normal lymphocyte but increased neutrophil. Also, antibiotic treatment in these patients could accelerate recovery to some extent. These results indicate that Bell's palsy in these patients may be caused by bacterial infection.

  8. Posterior reversible encephalopathy syndrome associated with left horizontal gaze palsy

    PubMed Central

    Studyvin, Sarah; Al-Halawani, Moh’d; Amireh, Sawsan; Thawabi, Mohammad

    2017-01-01

    Posterior reversible encephalopathy syndrome (PRES) is characterized by rapid onset of symptoms including headache, seizures, altered consciousness, and visual disturbance, as well as radiologic findings of focal reversible vasogenic edema. Multiple visual disturbances have been described in PRES, such as hemianopia, visual neglect, auras, visual hallucinations, and cortical blindness. However, horizontal gaze palsy has not been previously reported. We report a 72-year-old female who presented with blurred vision, severe headache, lethargy, and later developed seizures. She was found to have left horizontal gaze palsy with intact vestibulo-ocular reflex. Brain magnetic resonance imaging (MRI) showed severe edema throughout the subcortical white matter, and signal in the posterior parietal and occipital lobes. She was diagnosed with PRES associated with supranuclear gaze palsy. PMID:28361069

  9. Diagnosis and management of patients with Bell's palsy.

    PubMed

    Mooney, Tracy

    Bell's palsy (idiopathic facial paralysis) is the most common cause of acute unilateral facial nerve paralysis. Although it is usually a self-limiting condition, it can be distressing for the patient. Many people who experience one-sided facial paralysis fear that it is a symptom of stroke. However, there are subtle differences between Bell's palsy and stroke. This article discusses potential causes of the condition and identifies the differences between Bell's palsy and stroke. In addition, appropriate strategies for the care of patients with the condition are suggested. Management includes antiviral medication, corticosteroid therapy, eye care, botulinum toxin type A injection, physiotherapy, surgery and acupuncture. Psychological and emotional care of these patients is also important because any facial disability caused by facial nerve paralysis can result in anxiety and stress.

  10. Evaluation of a physiotherapeutic treatment intervention in "Bell's" facial palsy.

    PubMed

    Cederwall, Elisabet; Olsén, Monika Fagevik; Hanner, Per; Fogdestam, Ingemar

    2006-01-01

    The aim of this study was to evaluate a physiotherapeutic treatment intervention in Bell's palsy. A consecutive series of nine patients with Bell's palsy participated in the study. The subjects were enrolled 4-21 weeks after the onset of facial paralysis. The study had a single subject experimental design with a baseline period of 2-6 weeks and a treatment period of 26-42 weeks. The patients were evaluated using a facial grading score, a paresis index and a written questionnaire created for this study. Every patient was taught to perform an exercise program twice daily, including movements of the muscles surrounding the mouth, nose, eyes and forehead. All the patients improved in terms of symmetry at rest, movement and function. In conclusion, patients with remaining symptoms of Bell's palsy appear to experience positive effects from a specific training program. A larger study, however, is needed to fully evaluate the treatment.

  11. Hypokinesia without decrement distinguishes progressive supranuclear palsy from Parkinson's disease.

    PubMed

    Ling, Helen; Massey, Luke A; Lees, Andrew J; Brown, Peter; Day, Brian L

    2012-04-01

    Repetitive finger tapping is commonly used to assess bradykinesia in Parkinson's disease. The Queen Square Brain Bank diagnostic criterion of Parkinson's disease defines bradykinesia as 'slowness of initiation with progressive reduction in speed and amplitude of repetitive action'. Although progressive supranuclear palsy is considered an atypical parkinsonian syndrome, it is not known whether patients with progressive supranuclear palsy have criteria-defined bradykinesia. This study objectively assessed repetitive finger tap performance and handwriting in patients with Parkinson's disease (n = 15), progressive supranuclear palsy (n = 9) and healthy age- and gender-matched controls (n = 16). The motion of the hand and digits was recorded in 3D during 15-s repetitive index finger-to-thumb tapping trials. The main finding was hypokinesia without decrement in patients with progressive supranuclear palsy, which differed from the finger tap pattern in Parkinson's disease. Average finger separation amplitude in progressive supranuclear palsy was less than half of that in controls and Parkinson's disease (P < 0.001 in both cases). Change in tap amplitude over consecutive taps was computed by linear regression. The average amplitude slope in progressive supranuclear palsy was nearly zero (0.01°/cycle) indicating a lack of decrement, which differed from the negative slope in patients with Parkinson's disease OFF levodopa (-0.20°/cycle, P = 0.002). 'Hypokinesia', defined as <50% of control group's mean amplitude, combined with 'absence of decrement', defined as mean positive amplitude slope, were identified in 87% of finger tap trials in the progressive supranuclear palsy group and only 12% in the Parkinson's disease OFF levodopa group. In progressive supranuclear palsy, the mean amplitude was not correlated with disease duration or other clinimetric scores. In Parkinson's disease, finger tap pattern was compatible with criteria-defined bradykinesia

  12. Phrenic Nerve Palsy as Initial Presentation of Large Retrosternal Goitre.

    PubMed

    Hakeem, Arsheed Hussain; Hakeem, Imtiyaz Hussain; Wani, Fozia Jeelani

    2016-12-01

    Unilateral phrenic nerve palsy as initial presentation of the retrosternal goitre is extremely rare event. This is a case report of a 57-year-old woman with history of cough and breathlessness of 3 months duration, unaware of the thyroid mass. She had large cervico-mediastinal goiter and chest radiograph revealed raised left sided hemidiaphragm. Chest CT scan did not reveal any lung parenchymal or mediastinal pathology. The patient underwent a total thyroidectomy through a cervical approach. The final pathology was in favor of multinodular goitre. Even after 1 year of follow up, phrenic nerve palsy did not improve indicating permanent damage. Phrenic nerve palsy as initial presentation of the retrosternal goitre is unusual event. This case is reported not only because of the rare nature of presentation, but also to make clinicians aware of the entity so that early intervention may prevent attendant morbidity.

  13. Biomechanical bases of rehabilitation of children with cerebral palsy

    NASA Astrophysics Data System (ADS)

    Davlet'yarova, K. V.; Korshunov, S. D.; Kapilevich, L. V.

    2015-11-01

    Biomechanical analysis and the study results of children's with cerebral palsy (CP) muscles bioelectrical activity while walking on a flat surface are represented. Increased flexion in the hip and shoulder joints and extension in the elbow joint in children with cerebral palsy were observed, with the movement of the lower limbs had less smooth character in comparison with the control group. Herewith, the oscillation amplitude was significantly increased, and the frequency in the m. gastrocnemius and m. lateralis was decreased. It was shown, that the dynamic stereotype of walking in children with cerebral palsy was characterized by excessive involvement of m. gastrocnemius and m.latissimus dorsi in locomotion. Thus, resulting biomechanical and bioelectrical parameters of walking should be considered in the rehabilitation programs development.

  14. [Spasticity in children cerebral palsy: diagnosis and treatment strategies].

    PubMed

    Kurenkov, A L; Batysheva, T T; Vinogradov, A V; Ziuziaeva, E K

    2012-01-01

    Spasticity in children cerebral palsy has its own peculiarities due to the presence of pathological tonic reflexes, pathological sinkinetic activity during arbitrary movements, disturbance of coordinative interactions of muscle synergists and antagonists, increase of total reflex excitability. Physiotherapeutic methods, massage, therapeutic exercises, kinesitherapy, biological feedback training (BFT), methods of orthopedic correction, neurosurgery are widely used in the treatment of spasticity. The use of botulinum toxin type A is a new effective approach to the treatment of spasticity that improves motor functions and quality of life of children with children cerebral palsy. It is being used in the treatment of children and adolescence in a polyclinic unit of the Moscow psychoneurological hospital since 2001. The experience of treatment with botulinum and wide implementation of this method indicated that botulinum toxin injections in the complex treatment of spasticity allow to optimize approaches to treatment of children and adolescence with children cerebral palsy and to increase significantly the quality of medical-social rehabilitation of patients.

  15. Rehabilitation outcomes of children with cerebral palsy.

    PubMed

    Yalcinkaya, Ebru Yilmaz; Caglar, Nil Sayıner; Tugcu, Betul; Tonbaklar, Aysegul

    2014-02-01

    [Purpose] To evaluate the results of Bobath-based rehabilitation performed at a pediatric cerebral palsy (CP) inpatient clinic. [Subjects and Methods] The study subjects were 28 children with CP who were inpatients at a pediatric service. Inclusion criteria were: being an inpatient of our hospital aged 2-12 with a diagnosis of CP; having one permanent primary caregiver; and the caregiver having no medical or psychotic problems. All of the patients received Bobath treatment for 1 hour per day, 5 days a week. The locomotor system, neurologic and orthopedic examination, Gross Motor Function Measure (GMFM) of the patients, and Short Form-36 (SF-36) of permanent caregivers were evaluated at the time of admission to hospital, discharge from hospital, and at 1 and 3 months after discharge. [Results] Post-admission scores of GMFM at discharge, and 1 and 3 months later showed significant increase. Social function and emotional role subscores of SF-36 had increased significantly at discharge. [Conclusion] Bobath treatment is promising and randomized controlled further studies are needed for rehabilitation technics.

  16. Rehabilitation Outcomes of Children with Cerebral Palsy

    PubMed Central

    Yalcinkaya, Ebru Yilmaz; Caglar, Nil Sayıner; Tugcu, Betul; Tonbaklar, Aysegul

    2014-01-01

    [Purpose] To evaluate the results of Bobath-based rehabilitation performed at a pediatric cerebral palsy (CP) inpatient clinic. [Subjects and Methods] The study subjects were 28 children with CP who were inpatients at a pediatric service. Inclusion criteria were: being an inpatient of our hospital aged 2–12 with a diagnosis of CP; having one permanent primary caregiver; and the caregiver having no medical or psychotic problems. All of the patients received Bobath treatment for 1 hour per day, 5 days a week. The locomotor system, neurologic and orthopedic examination, Gross Motor Function Measure (GMFM) of the patients, and Short Form-36 (SF-36) of permanent caregivers were evaluated at the time of admission to hospital, discharge from hospital, and at 1 and 3 months after discharge. [Results] Post-admission scores of GMFM at discharge, and 1 and 3 months later showed significant increase. Social function and emotional role subscores of SF-36 had increased significantly at discharge. [Conclusion] Bobath treatment is promising and randomized controlled further studies are needed for rehabilitation technics. PMID:24648650

  17. Mastery motivation in adolescents with cerebral palsy.

    PubMed

    Majnemer, Annette; Shikako-Thomas, Keiko; Lach, Lucy; Shevell, Michael; Law, Mary; Schmitz, Norbert

    2013-10-01

    The aim of this study is to describe motivation in adolescents with cerebral palsy (CP) and factors associated with motivation level. The Dimensions of Mastery Questionnaire (DMQ) measures motivation in mastering challenging tasks and expressive elements. It was completed by 153 parents and 112 adolescents with CP. Adolescents (GMFCS in n=146 - I:50, II:43, III:13, IV:15, V:25) were assessed using the Leiter IQ and Gross Motor Function Measure. Parents completed the Vineland Adaptive Behavior Scale and the Strengths and Difficulties Questionnaire. Motivation scores were highest for mastery pleasure and social persistence with adults and lowest for gross motor and object-oriented persistence. Socio-demographic factors were not strongly correlated with DMQ. Higher gross motor ability (r=0.24-0.52) and fewer activity limitations (r=0.30-0.64, p<.001) were associated with persistence in cognitive, motor and social tasks, but not mastery pleasure. Higher IQ was associated with persistence in object-oriented tasks (r=0.42, p<.001). Prosocial behaviors correlated with high motivation (r=0.39-0.53, p<.001). Adolescents' motivation scores were higher than parents' scores. Adolescents with CP express high mastery pleasure, not related to abilities. High motivation was associated with fewer activity limitations and prosocial behaviors and aspects of family environment. Findings elucidate those at-risk for low motivation, which can influence treatment adherence and participation in challenging but meaningful activities.

  18. Quantification of cocontraction in spastic cerebral palsy.

    PubMed

    Ikeda, A J; Abel, M F; Granata, K P; Damiano, D L

    1998-12-01

    Antagonist cocontraction was hypothesized to limit net moment production in children with spastic diplegic cerebral palsy (CP). A second hypothesis was that concontraction would vary with joint angle. To test these hypotheses, surface EMG activity and moment data from the quadriceps and hamstrings muscle groups were obtained from children with CP and compared with normally developing children during isometric flexion and extension exertions. A biomechanical model was developed to predict individual moments produced by the agonist and antagonist muscle groups. Concontraction was defined as the percentage of the net moment that was negated by the antagonist moment. The model performed well in predicting the measured moment as illustrated by high R2 correlation coefficients and low prediction errors. The mean maximum moment produced was greater in normally developing children than children with CP in both flexion and extension. Antagonist cocontraction during extension was greater in children with CP (12.2 +/- 14.4%) than in normally developing children (4.9 +/- 3.8%), implying that antagonist cocontraction is one explanation for the observed extension weakness in children with CP. However, during flexion, cocontraction was not significantly different between the two groups. Cocontraction differed significantly with joint angle in both groups during flexion and in the normally developing children during extension. Although quantifying coactivation based on EMG activity alone produced similar results, it underestimated the effect of the antagonist. The quantification of cocontraction has potential applications for characterizing spastic muscle dysfunction and thereby improving clinical outcomes in children with CP.

  19. [Treatment of idiopathic peripheral facial nerve paralysis (Bell's palsy)].

    PubMed

    Meyer, Martin Willy; Hahn, Christoffer Holst

    2013-01-28

    Bell's palsy is defined as an idiopathic peripheral facial nerve paralysis of sudden onset. It affects 11-40 persons per 100,000 per annum. Many patients recover without intervention; however, up to 30% have poor recovery of facial muscle control and experience facial disfigurement. The aim of this study was to make an overview of which pharmacological treatments have been used to improve outcomes. The available evidence from randomized controlled trials shows significant benefit from treating Bell's palsy with corticosteroids but shows no benefit from antivirals.

  20. [Trigeminal sensory involvement in Bell's palsy (author's transl)].

    PubMed

    Lapresle, J; Fernandez Manchola, I; Lasjaunias, P

    1980-01-26

    Trigeminal sensory involvement was noted in 14 out of 24 cases of Bell's palsy. The authors describe its characteristics and its chronology with regard to the facial paralysis. Then they propose a vascular mechanism for this association on the basis of two kinds of data. First it is known that there is a common arterial supply of the VIIth and Vth cranial nerves through the middle meningeal vascular system. Secondly some exceptional complications of embolisation within that system have included involvement of both VIIth and Vth sensory nerves. These facts support the vascular basis of Bell's palsy and present an example of a vascular territorial pathology in cranial nerve involvement.

  1. Key emerging issues in progressive supranuclear palsy and corticobasal degeneration.

    PubMed

    Josephs, Keith A

    2015-03-01

    It has been approximately 50 years since neurologists were introduced to the entities, "progressive supranuclear palsy" and "corticobasal degeneration". Since the two seminal publications, there have been significant advancements in our understanding of these two neurodegenerative diseases, particularly the fact that both are associated with tau. Recent advances over the past 3 years that are notable to the field are discussed in this review that covers clinical diagnosis, pathological features, neuroimaging and CSF biomarkers, genetic associations and clinical trials related to progressive supranuclear palsy and corticobasal degeneration.

  2. Skull base osteomyelitis presenting with an isolated hypoglossal nerve palsy

    PubMed Central

    Kasfiki, Eirini Vasileiou; Kelly, Ciaran; Smith, John; Nicolaides, Andreas

    2013-01-01

    This is the first case of skull base osteomyelitis presenting with isolated bilateral hypoglossal nerve palsy reported in the literature. A 75-year-old man presented with tongue paralysis without any other cranial nerve palsy. He was otherwise well apart from recently having a high prostate-specific antigen level recorded. Investigations for malignancy or cerebrovascular insult were negative with the diagnosis of skull base osteomyelitis confirmed using CT. Following treatment with intravenous antibiotics for 6 weeks, symptoms resolved. PMID:23853016

  3. Treatment of swan neck deformity in cerebral palsy.

    PubMed

    Carlson, Erik J; Carlson, Michelle Gerwin

    2014-04-01

    Swan neck deformity in patients with cerebral palsy can result from hand intrinsic muscle spasticity or overpull of the digital extensors. After accurate identification of the etiology of the deformity, surgical treatment is directed at correcting the underlying muscle imbalance. Intrinsic lengthening can be used to treat intrinsic muscle spasticity, whereas central slip tenotomy is employed when digital extensor overpull is the deforming force. Accurate diagnosis and application of the proper surgical technique are essential when treating swan neck deformity in patients with cerebral palsy.

  4. A case presentation of bilateral simultaneous Bell's palsy.

    PubMed

    Kilic, Rahmi; Ozdek, Ali; Felek, Sevim; Safak, M Asim; Samim, Erdal

    2003-01-01

    Bilateral simultaneous facial paralysis is an extremely rare clinical entity. Unlike the unilateral form, bilateral facial paralysis seldom falls into Bell's category. It is most often a special finding in a symptom complex of a systemic disease; many of them are potentially life-threatening, and therefore the condition warrants urgent medical intervention. Lyme disease, Guillian-Barre syndrome, Bell's palsy, leukemia, sarcoidosis, bacterial meningitis, syphilis, leprosy, Moebius syndrome, infectious mononucleosis, and skull fracture are the most common cause of bilateral facial paralysis. Here we present a 16-year-old patient with bilateral simultaneous Bell's palsy.

  5. Peripheral facial palsy and dysfunction of the oropharynx

    PubMed Central

    Secil, Y; Aydogdu, I; Ertekin, C

    2002-01-01

    Forty four patients with unilateral Bell's palsy (acute or chronic stages) and 20 normal control subjects were investigated. In 66% of patients with PFP, oropharyngeal swallowing was disturbed as demonstrated electrophysiologically by the patients' dysphagia limit at or below 20 ml of water. In patients with PFP investigated within the first 2 weeks of the palsy, the dysphagia limit normalised during the period of recovery. Normalisation of the dysphagia limit is highly correlated with the recovery of PFP. Thus, subclinical deglutition is very frequent in patients with PFP. The severity of abnormal deglutition increased with the severity of the PFP, especially with the involvement of the perioral and buccinator muscles. PMID:11861704

  6. External ocular motor palsies in ophthalmic zoster: a review.

    PubMed Central

    Marsh, R J; Dulley, B; Kelly, V

    1977-01-01

    Seventy-seven new patients suffering from ophthalmic zoster and a selected group of 69 old patients were carefully examined with regard to external ocular movements. An incidence of 31% of ocular pareses was found in the new patients, and 58 in all were analysed. We were surprised to find several of these were contralateral and bilateral palsies. 28% of the palsies were asymptomatic, due to diplopia being present only in extremes of gaze and the rapid development of suppression in the affected eye. The theories of aetiology of these pareses are discussed. PMID:338027

  7. Bilateral Vocal Cord Palsy with Arnold Chiari Malformation: A Rare Case Series.

    PubMed

    Arora, Nikhil; Juneja, Ruchika; Meher, Ravi; Bhargava, Eishaan K

    2016-09-01

    Stridor in paediatric age group is not an uncommon presentation to the ENT emergency. The range of differential diagnosis is vast. The presentation may vary from noisy breathing to severe respiratory distress and apnea. Early and meticulous diagnosis is crucial for the management as the condition may be life threatening. We report a rare case series of 3 infants with Arnold Chiari Malformation who presented to the hospital with stridor and were diagnosed with bilateral vocal cord palsy. These 3 infants had similar underlying neurological condition with hydrocephalus and raised intracranial pressure. Chiari malformation is the one of the most common congenital central nervous system anomaly associated with bilateral vocal cord paralysis. However, the presentation is rare. This article, thus, emphasizes the significance of early diagnosis and immediate management of this condition.

  8. Bilateral Vocal Cord Palsy with Arnold Chiari Malformation: A Rare Case Series

    PubMed Central

    Arora, Nikhil; Meher, Ravi; Bhargava, Eishaan K.

    2016-01-01

    Stridor in paediatric age group is not an uncommon presentation to the ENT emergency. The range of differential diagnosis is vast. The presentation may vary from noisy breathing to severe respiratory distress and apnea. Early and meticulous diagnosis is crucial for the management as the condition may be life threatening. We report a rare case series of 3 infants with Arnold Chiari Malformation who presented to the hospital with stridor and were diagnosed with bilateral vocal cord palsy. These 3 infants had similar underlying neurological condition with hydrocephalus and raised intracranial pressure. Chiari malformation is the one of the most common congenital central nervous system anomaly associated with bilateral vocal cord paralysis. However, the presentation is rare. This article, thus, emphasizes the significance of early diagnosis and immediate management of this condition. PMID:27790480

  9. Treating cerebral palsy with aculaser therapy

    NASA Astrophysics Data System (ADS)

    Anwar, Shahzad; Nazir Khan, Malik M.; Nadeem Khan, Malik M.; Qazi, Faiza M.; Awan, Abid H.; Dar, Irfan

    2008-03-01

    A single, open and non comparative study was conducted at Anwar Shah Trust for C.P. & Paralysis in collaboration with the Departments of Neurology and Neurosurgery, Children Hospital Lahore, Pakistan to evaluate the effects of ACULASER THERAPY in childern suffering from Cerebral Palsy (C.P.) and associated Neurological Disorders like epilepsy, cortical blindness, spasticity, hemiplegia, paraplegia, diplegia, quadriplegia, monoplegia, sensory-neural deafness and speech disorders. In all 250 childern were treated and the data was gathered during a period of 3 years from December 2003 till December 2006. These children were further classified according to the type of C.P. (spastic, athetoid, mixed) they suffered from and associated Neurological Disorders. This article shows results in C.P. childern who were treated with ACULASER THERAPY for minimum 6 weeks and more or had minimum of 15 treatment sessions and more. This article also shows that those childern who were given a break in the treatment for 1 month to 1 year did not show any reversal of the signs and symptoms. Analysis of the data showed that out of 171 children with Spasticity and Stiffness 147 showed marked improvement showing 87% success rate, out of 126 children with Epileptic fits, there was a significant reduction in the intensity, frequency and duration of Epileptic fits in 91 children showing 72% success rate, out of 48 children with Cortical Blindness 30 children showed improvement accounting for 63% efficacy rate, out of 105 children with Hearing Difficulties, 63 showed marked improvement accounting for 60% improvement rate, out of 190 children with Speech Disorders 122 showed improvement reflecting 64% improvement rate, out of 96 children with Hemiplegia 71 showed improvement in movement, tone and power accounting for 74% improvement rate, out of 76 children with Quadriplegia 52 showed improvement in gross and fine motor functions showing 69% success rate and out of 58 children with Paraplegia of

  10. Narrative ability in children with cerebral palsy.

    PubMed

    Holck, Pernille; Dahlgren Sandberg, Annika; Nettelbladt, Ulrika

    2011-01-01

    In a previous study a group of children with cerebral palsy (CP) were found to have considerable difficulties with narratives, performing several standard deviations below the criteria for the Information score of the Bus Story Test (BST). To examine in depth the performance of children with CP and a control group with typically developing (TD) children on a narrative task, in order to search for possible underlying causes to the problems in the CP group. The results of the BST for 10 children with CP, mean age 7;11 years, were investigated. The analysis of the BST was supplemented with the use of the Narrative Assessment Profile (NAP) and quantitative analyses of number of words, mazes, propositions, types of conjunctions and story elements. A significant relationship between the explicitness dimension on the Narrative Assessment Profile and the BST Information score in the CP group suggested that the problems could be derived to a limited use of cohesion and a scarcity of essential information. Compared to the CP group, the TD group used significantly more causal conjunctions. The results indicate a general problem with cohesion at the textual level in the CP group. A further finding was the occurrence of a positive correlation between the use of mazes and the BST Information score in the CP group. These results have implications for the design of a more specific intervention for children, where the NAP was found to be a valuable tool in combination with the BST or other assessment materials. Further, it is shown that mazes, mostly regarded as a behaviour that not enhances speech production, for some children can be used as a means to find necessary words and pieces of information.

  11. Nerve Transfer in Delayed Obstetrical Palsy Repair

    PubMed Central

    Sénès, Filippo; Catena, Nunzio; Sénès, Jacopo

    2015-01-01

    Objective  When root avulsions are detected in children suffering from obstetrical brachial plexus palsy (OBPP), neurotization procedures of different nerve trunks are commonly applied in primary brachial plexus repair, to connect distally the nerves of the upper limbs using healthy nerve structures. This article aims to outline our experience of neurotization procedures in OBPP, which involves nerve transfers in the event of delayed repair, when a primary repair has not occurred or has failed. In addition, we propose the opportunity for late repair, focusing on extending the time limit for nerve surgery beyond that which is usually recommended. Although, according to different authors, the time limit is still unclear, it is generally estimated that nerve repair should take place within the first months of life. In fact, microsurgical repair of OBPP is the technique of choice for young children with the condition who would otherwise have an unfavorable outcome. However, in certain cases the recovery process is not clearly defined so not all the patients are direct candidates for primary nerve surgery. Methods  In the period spanning January 2005 through January 2011, among a group of 105 patients suffering from OBPP, ranging from 1 month to 7 years of age, the authors have identified a group of 32 partially recovered patients. All these patients underwent selective neurotization surgery, which was performed in a period ranging from 5 months to 6.6 years of age. Results  Late neurotization of muscular groups achieved considerable functional recovery in these patients, who presented with reduced motor function during early childhood. The said patients, with the exception of five, would initially have avoided surgery because they had not met the criteria for nerve surgery. Conclusion  We have concluded that the execution of late nerve surgical procedures can be effective in children affected by OBPP. PMID:27917233

  12. Reactivation of herpes simplex virus type 1 in patients with Bell's palsy.

    PubMed

    Furuta, Y; Fukuda, S; Chida, E; Takasu, T; Ohtani, F; Inuyama, Y; Nagashima, K

    1998-03-01

    Reactivation of herpes simplex virus type 1 (HSV-1) has been implicated in the pathogenesis of idiopathic peripheral facial palsy (Bell's palsy). The present study used the polymerase chain reaction (PCR) to analyze the saliva of patients with Bell's palsy for the presence of shed HSV-1. The study involved 47 patients with Bell's palsy, 24 patients with Ramsay Hunt syndrome, and 16 healthy HSV-seropositive volunteers. HSV-1 DNA was not detected in the saliva samples from HSV-seronegative patients. The prevalence of shed HSV-1 in patients with Bell's palsy (50%) was significantly higher than that in healthy volunteers (19%, p<0.05). When saliva samples were tested within 7 days after the onset of palsy, the prevalence of shed HSV-1 in patients with Bell's palsy (40%) was significantly higher than that in patients with Ramsay Hunt syndrome (7%, p<0.05). Furthermore, HSV-1 usually became undetectable by the second week after the onset of Bell's palsy when HSV-1 was detected during the acute phase of the disease. These findings strongly suggest that reactivation of HSV-1 is involved in the pathogenesis Bell's palsy, and indicate that PCR is a useful tool for early diagnosis of HSV-1 reactivation in patients with Bell's palsy.

  13. Pudendal nerve palsy in trauma and elective orthopaedic surgery.

    PubMed

    Polyzois, Ioannis; Tsitskaris, Konstantinos; Oussedik, Sam

    2013-12-01

    The incidence of pudendal nerve palsy following routine trauma and elective orthopaedic surgery procedures ranges from 1.9% to 27.6%. Excessive and/or prolonged traction against the perineal post of a traction table, leading to direct compression and localised ischaemia to the nerve are suggested mechanisms of injury. Misuse of traction and the inappropriate placement of the perineal post, leading to crushing and stretching of the pudendal nerve, are two main contributing factors leading to its postoperative palsy. The sequelae may be sensory, motor or mixed. In most cases, these injuries are transient and tend to resolve within several weeks or months. However, complete neurological recovery may be unpredictable and the effects of ongoing dysfunction potentially disastrous for the individual. In terms of preventative measures, magnitude and duration of traction time should be minimised; traction should be limited to the critical operative steps only. Additionally, the perineal post should be placed between the genitalia and the contralateral leg. A well-padded, large-diameter perineal post should be used (>10cm). Adequate muscle relaxation during anaesthesia is particularly important in young men who have strong muscles and thus require larger traction forces when compared to elderly patients. Orthopaedic surgeons should be aware of the pathophysiology behind the development of this palsy and the measures that can be employed to reduce its occurrence. In procedures where a traction table is employed, consenting for pudendal nerve palsy should be considered by the surgical team.

  14. Comparing Scanning Modes for Youths with Cerebral Palsy. Final Report.

    ERIC Educational Resources Information Center

    Ottenbacher, Kenneth J.; Angelo, Jennifer

    This study of 22 individuals (ages 13-20) with cerebral palsy investigated the use of scanning, an interface technique that allows access to assistive devices such as communication boards, electronic augmentative communication devices, and computers by using a pointer, either a finger or a cursor. This packet of information includes the findings…

  15. Intermittent versus Continuous Physiotherapy in Children with Cerebral Palsy

    ERIC Educational Resources Information Center

    Christiansen, Annette Sandahl; Lange, Christa

    2008-01-01

    The aim of this study was to compare the effect of the delivery of the same amount of intermittent versus continuous physiotherapy given to children with cerebral palsy (CP). This was organized either in an intermittent regime four times a week for 4 weeks alternating with a 6-week treatment pause, or a continuous once or twice a week regime, both…

  16. Causes and Interventions in the Area of Cerebral Palsy.

    ERIC Educational Resources Information Center

    Griffin, Harold C.; Fitch, Christine L.; Griffin, Linda W.

    2002-01-01

    Possible prenatal, perinatal, and postnatal causes of cerebral palsy are explored and a causal pathway theory is presented that provide a methodology to study the impact of the various causal factors. The role of an interdisciplinary team in assessment and program development is discussed and prevention strategies are presented. (Contains…

  17. Bimanual Force Coordination in Children with Spastic Unilateral Cerebral Palsy

    ERIC Educational Resources Information Center

    Smits-Engelsman, B. C. M.; Klingels, K.; Feys, H.

    2011-01-01

    In this study bimanual grip-force coordination was quantified using a novel "Gripper" system that records grip forces produced while holding a lower and upper unit, in combination with the lift force necessary to separate these units. Children with unilateral cerebral palsy (CP) (aged 5-14 years, n = 12) were compared to age matched typically…

  18. Understanding Participation of Preschool-Age Children with Cerebral Palsy

    ERIC Educational Resources Information Center

    Chiarello, Lisa Ann; Palisano, Robert J.; Orlin, Margo N.; Chang, Hui-Ju; Begnoche, Denise; An, Mihee

    2012-01-01

    Participation in home, school, and community activities is a primary outcome of early intervention services for children with disabilities and their families. The objectives of this study were to (a) describe participation of preschool-age children with cerebral palsy (CP); (b) determine effects of sex, age, and gross motor function on intensity…

  19. Nutritional Assessment of the Young Child with Cerebral Palsy.

    ERIC Educational Resources Information Center

    Fee, Maureen A.; And Others

    1988-01-01

    Children with cerebral palsy sometimes display nutritional inadequacy, as evaluated through anthropometric measurements and laboratory values. Causes of poor nutritional status include inadequate calories offered or adequate calories offered but not consumed. Inadequate caloric retention may be due to vomiting, rumination, or gastroesophageal…

  20. Kienböck's disease in cerebral palsy.

    PubMed

    Rooker, G D; Goodfellow, J W

    1977-08-01

    Five cases of Kienböck's disease occurring in a group of fifty-three adults with cerebral palsy are described. The increased incidence of the disease is attributed to the flexed posture habitual in the affected wrist and to an effect on the pattern of blood supply to the lunate.

  1. Diversity of Participation in Children with Cerebral Palsy

    ERIC Educational Resources Information Center

    Imms, Christine; Reilly, Sheena; Carlin, John; Dodd, Karen

    2008-01-01

    The aim of this study was to investigate the participation of children with cerebral palsy (CP) in activities outside school and to compare their participation with a large representative sample of children. A population-based survey was conducted of children with CP born in Victoria, Australia in 1994 and 1995. Of 219 living children identified,…

  2. Rehabilitation of Bells' palsy from a multi-team perspective.

    PubMed

    Hultcrantz, Malou

    2016-01-01

    Conclusions Defectively healed facial paralysis causes difficulties to talk and eat, involuntary spasms (synkinesis), and cosmetic deformities which can give rise both to severe psychological and physical trauma. A team consisting of Ear-Nose-Throat specialists, Plastic surgeons and Physiotherapists can offer better care, treatment and outcome for patients suffering from Bells' palsy. Objectives Patients suffering from Bells' palsy from all ENT hospitals in Sweden and the University Hospital in Helsinki has been included. Methods Results have been drawn and statistically processed for different outcomes from a prospective, double blind cross over study. Results from a pilot surgical study and therapeutic results from physiotherapy studies have been included. Ideas concerning different kinds of surgery will be reviewed and the role of physiotherapy discussed. Results According to common results, treatment with Prednisolone enhances the recovery rate and should, if possible, be used early in the course. Sunnybrook grading at 1 month after onset most accurately predicts non-recovery at 12 months in Bells' palsy and a risk factor curve will be presented in order to predict outcome and selection of patients for undergoing facial surgery. This report is focusing on how to handle patients with Bells' palsy from a multi-rehabilitation team point of view, and what will be recommended to provide these patients with the best clinical and surgical help.

  3. Prosthodontic Rehabilitation of Patients with Bell's Palsy: Our Experience.

    PubMed

    Rajapur, Anand; Mitra, Nirban; Prakash, V Jeevan; Rah, Sajad Ahmad; Thumar, Sagar

    2015-01-01

    Bell's palsy is an idiopathic unilateral lower motor neuron paresis or paralysis of the facial nerve of sudden onset. It involves loss of muscular control on the affected side of the face. This paper reports the prosthodontic management of patients with Bell's palsy and also describes a technique to stabilize the jaw movements in complete denture patients using interim dentures. A 65-year-old male edentulous patient and a 55-year-old female edentulous patient reported to the department of prosthodontics to get their missing teeth replaced. They both gave history of facial paralysis and were diagnosed for Bell's palsy. Interim training dentures with flat occlusal tables were fabricated first to correct and stabilize their mandibular movements. During initial 4 weeks, there was poor functioning of the interim dentures. Gradually by 8(th) week the patients started stabilizing the interim dentures and were functional. After observing the improvement when the patients had no pain and could stabilize and use the treatment dentures successfully, definitive complete dentures were fabricated. This case report presents a systematic approach to successively rehabilitate edentulous patients with Bell's palsy.

  4. Retrospective Descriptive Study of Cerebral Palsy in Nepal

    ERIC Educational Resources Information Center

    Thapa, Ritesh

    2016-01-01

    There is very little data pertaining to cerebral palsy (CP) from Nepal. In this retrospective study it was observed that dyskinetic CP was seen in 29% and the sex ratio of males to females was two in the study population of children with CP. Both of these are much higher than data from developed countries. Hence, further randomized cross-sectional…

  5. Reproducibility of Tactile Assessments for Children with Unilateral Cerebral Palsy

    ERIC Educational Resources Information Center

    Auld, Megan Louise; Ware, Robert S.; Boyd, Roslyn Nancy; Moseley, G. Lorimer; Johnston, Leanne Marie

    2012-01-01

    A systematic review identified tactile assessments used in children with cerebral palsy (CP), but their reproducibility is unknown. Sixteen children with unilateral CP and 31 typically developing children (TDC) were assessed 2-4 weeks apart. Test-retest percent agreements within one point for children with unilateral CP (and TDC) were…

  6. Aerobic Capacity in Children and Adolescents with Cerebral Palsy

    ERIC Educational Resources Information Center

    Verschuren, Olaf; Takken, Tim

    2010-01-01

    This study described the aerobic capacity [VO[subscript 2peak] (ml/kg/min)] in contemporary children and adolescents with cerebral palsy (CP) using a maximal exercise test protocol. Twenty-four children and adolescents with CP classified at Gross Motor Functional Classification Scale (GMFCS) level I or level II and 336 typically developing…

  7. Operant Control of Pathological Tongue Thrust in Spastic Cerebral Palsy.

    ERIC Educational Resources Information Center

    Thompson, George A., Jr.

    1979-01-01

    The behavior modification procedure, carried out at mealtime with a ten-year-old retarded boy who had spastic cerebral palsy, consisted of differential reinforcement and punishment, and resulted in substantial decreases in tongue thrust (reverse swallowing) and food expulsion, and a large increase in observed chewing. (Author/DLS)

  8. Progressive supranuclear palsy: what do we know about it?

    PubMed

    Long, Ling; Cai, Xiao-Dong; Wei, Xiao-Bo; Liao, Jin-Chi; Xu, Yun-Qi; Gao, Hui-Min; Chen, Xiao-Hong; Wang, Qing

    2015-01-01

    Progressive supranuclear palsy (PSP) is a progressive tauopathy characterized by supranuclear ophthalmoplegia, pseudobulbar palsy, dysarthria, axial rigidity, frontal lobe dysfunction, and dementia. The typical pathology includes neuronal loss, gliosis and microtubule-associated protein tau (MAPT)-positive inclusions in neurons and glial cells, primarily in basal ganglia, brainstem and cerebellum. The pathogenesis of PSP is not yet completely understood; however, there are several hypotheses. This article reviews the present knowledge about PSP, and the concepts underlying mitochondrial dysfunction, lipoperoxidation, and gene mutations. The clinical features of PSP are also discussed; these include vertical gaze palsy, pseudobulbar palsy, aphasia, dysarthria, axial rigidity, and neuropsychiatric symptoms, such as amnesia, irritability, loss of interest, and dementia. In terms of diagnosis, there is considerable interest in neuroimaging for detecting PSP; therefore, neuroimaging techniques such as magnetic resonance imaging (MRI) and [18F]- fluorodeoxyglucose positron-emission tomography (FDG-PET) are reviewed. A definitive diagnosis of PSP depends on pathology, and the introduction of new clinical subtypes challenges presents the widely adopted diagnosis criteria. PSP treatments such as serotonin antagonists, α2 receptor antagonists, and coenzyme Q10 are also discussed. There is no curative therapy for PSP; all of the available treatments are palliative.

  9. Management of Drooling in Cerebral Palsy: Three Single Case Studies.

    ERIC Educational Resources Information Center

    Owen, S. E.; Stern, L. M.

    1992-01-01

    This study examined use of benztropine drug therapy to control drooling in 3 children (ages 5, 9, and 12) with moderately severe cerebral palsy. Significant improvement in all three cases suggested a role for medication in the management of drooling in prepubescent children who fail to respond to physical therapy or behavioral programs. (DB)

  10. Attentional and Executive Impairments in Children with Spastic Cerebral Palsy

    ERIC Educational Resources Information Center

    Bottcher, Louise; Flachs, Esben Meulengracht; Uldall, Peter

    2010-01-01

    Aim: Children with cerebral palsy (CP) are reported to have learning and social problems. The aim of the present study was to examine whether children with CP have impairments in attention or executive function. Method: We examined attention and executive function with standardized neuropsychological measures in a group of children with unilateral…

  11. Lithium-Induced Downbeat Nystagmus and Horizontal Gaze Palsy.

    PubMed

    Jørgensen, Jesper Skovlund; Landschoff Lassen, Lisbeth; Wegener, Marianne

    2016-01-01

    We report a case of lithium-induced downbeat nystagmus and horizontal gaze palsy in a 62-year-old woman who was treated for a bipolar affective disorder with lithium carbonate for one month. At presentation serum lithium was within therapeutic range. No alternative causes of the ocular motility disturbances were found, and the patient improved significantly as lithium carbonate was discontinued.

  12. The Determinants of Daily Function in Children with Cerebral Palsy

    ERIC Educational Resources Information Center

    Tseng, Mei-Hui; Chen, Kuan-Lin; Shieh, Jeng-Yi; Lu, Lu; Huang, Chien-Yu

    2011-01-01

    The aim of this study was to identify determinants of daily function in a population-based sample of children with cerebral palsy (CP). The study took into consideration factors from the entire scope of the International Classification of Functioning, Disability, and Health (ICF). Furthermore, the determinants of daily function were examined from…

  13. Predictors of Verbal Working Memory in Children with Cerebral Palsy

    ERIC Educational Resources Information Center

    Peeters, Marieke; Verhoeven, Ludo; de Moor, Jan

    2009-01-01

    The goal of the present study was to examine the precursors of verbal working memory in 52 children with cerebral palsy with varying degrees of speech impairments in the first grade of special education. Following Baddeley's model of working memory, children's verbal working memory was measured by means of a forced-recognition task. As precursors…

  14. Robot-Assisted Task-Specific Training in Cerebral Palsy

    ERIC Educational Resources Information Center

    Krebs, Hermano I.; Ladenheim, Barbara; Hippolyte, Christopher; Monterroso, Linda; Mast, Joelle

    2009-01-01

    Our goal was to examine the feasibility of applying therapeutic robotics to children and adults with severe to moderate impairment due to cerebral palsy (CP). Pilot results demonstrated significant gains for both groups. These results suggest that robot-mediated therapy may be an effective tool to ameliorate the debilitating effects of CP and…

  15. Home Literacy Environment: Characteristics of Children with Cerebral Palsy

    ERIC Educational Resources Information Center

    Peeters, Marieke; Verhoeven, Ludo; van Balkom, Hans; de Moor, Jan

    2009-01-01

    Background: Various aspects of the home literacy environment are considered to stimulate the emergent literacy development in children without disabilities. It is important to gain insight into the home literacy environment of children with cerebral palsy given that they have been shown to have difficulty acquiring literacy skills. Aims: The aims…

  16. Childhood Educational Experiences of Women with Cerebral Palsy

    ERIC Educational Resources Information Center

    Freeborn, Donna; Mandleco, Barbara

    2010-01-01

    The purpose of this study was to examine the childhood experiences of women with cerebral palsy (CP), from the perspectives of these women. Using the feminist biographical method, eight women with CP participated in two in-depth interviews. Participants ranged in age from 22 to 55 years and had moderate to severe athetoid or spastic CP. Four…

  17. Functional Electrical Stimulation in Children and Adolescents with Cerebral Palsy

    ERIC Educational Resources Information Center

    van der Linden, Marietta

    2012-01-01

    In this article, the author talks about functional electrical stimulation in children and adolescents with cerebral palsy. Functional electrical stimulation (FES) is defined as the electrical stimulation of muscles that have impaired motor control, in order to produce a contraction to obtain functionally useful movement. It was first proposed in…

  18. Language and Motor Speech Skills in Children with Cerebral Palsy

    ERIC Educational Resources Information Center

    Pirila, Silja; van der Meere, Jaap; Pentikainen, Taina; Ruusu-Niemi, Pirjo; Korpela, Raija; Kilpinen, Jenni; Nieminen, Pirkko

    2007-01-01

    The aim of the study was to investigate associations between the severity of motor limitations, cognitive difficulties, language and motor speech problems in children with cerebral palsy. Also, the predictive power of neonatal cranial ultrasound findings on later outcome was investigated. For this purpose, 36 children (age range 1 year 10 months…

  19. Fracture of skull base with delayed multiple cranial nerve palsies.

    PubMed

    Yildirim, Altan; Gurelik, Mustafa; Gumus, Cesur; Kunt, Tanfer

    2005-07-01

    This report describes a pediatric case of delayed glossopharyngeal nerve, vagus nerve, and facial nerve palsies after a head injury. Computed tomography scan of the skull base revealed the fracture of the petrous part of the temporal bone, and the fracture involved the tip of petrous pyramid, in front of the jugular foramen. The anatomical features, mechanisms, diagnosis, and treatment are discussed.

  20. 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;…

  1. Tactile Assessment in Children with Cerebral Palsy: A Clinimetric Review

    ERIC Educational Resources Information Center

    Auld, Megan Louise; Boyd, Roslyn Nancy; Moseley, G. Lorimer; Johnston, Leanne Marie

    2011-01-01

    This review evaluates the clinimetric properties of tactile assessments for children with cerebral palsy. Assessment of registration was reported using Semmes Weinstein Monofilaments (SWMs) or exteroception. Assessment of two-point discrimination was reported using the Disk-Criminator[R] or paperclip methods; Single point localization and double…

  2. Cerebral Palsy Symptoms in Children Decreased Following Massage Therapy

    ERIC Educational Resources Information Center

    Hernandez-Reif, Maria; Field, Tiffany; Largie, Shay; Diego, Miguel; Manigat, Natasha; Seoanes, Jacqueline; Bornstein, Joan

    2005-01-01

    Twenty young children (mean age = 32 months) with cerebral palsy (CP) recruited from early intervention programs received 30 minutes of massage or reading twice weekly for 12 weeks. The children receiving massage therapy showed fewer physical symptoms including reduced spasticity, less rigid muscle tone overall and in the arms, and improved fine…

  3. Portrayals of People with Cerebral Palsy in Homicide News

    ERIC Educational Resources Information Center

    Lucardie, Richard; Sobsey, Dick

    2005-01-01

    Through content analysis, employing qualitative and quantitative methods, Canadian media representation of people with cerebral palsy (PWCP) in public life was examined. Canadian NewsDisc, an online biographic database service, was used to examine the use of stigmatizing language such as afflicted by, afflicted with, suffered from, suffers from,…

  4. Degree of Involvement and Young Children with Cerebral Palsy.

    ERIC Educational Resources Information Center

    Parette, H. P., Jr.; And Others

    1996-01-01

    Studies of the degree of involvement (DOI) and its relationship to therapeutic intervention effectiveness and related services for young children with cerebral palsy were reviewed. Three dimensions of DOI: (1) brain damage and mental retardation, (2) functional motor ability, and (3) emotional disturbance and behavior problems were reviewed. The…

  5. [Sixth nerve palsies in children. Presentation of four cases].

    PubMed

    Zimmermann-Paiz, Martin A; Fang-Sung, Jen Wen

    2008-10-01

    The etiology of the sixth nerve palsy in children includes multiple causes, being the acquired ones the most frequent. Due to the importance of the adequate management and possible implications of this pathology, four patients are presented for analysis and discussion.

  6. Behaviour in Children with Cerebral Palsy with and without Epilepsy

    ERIC Educational Resources Information Center

    Carlsson, Malin; Olsson, Ingrid; Hagberg, Gudrun; Beckung, Eva

    2008-01-01

    The aim of the study was to describe behavioural problems in children with cerebral palsy (CP) with and without epilepsy. The children were sampled from the Western Sweden CP register and were part of a European Union project. The Strength and Difficulties Questionnaire and questions on epilepsy were answered by one parent of each child. Medical…

  7. Stability of Motor Impairment in Children with Cerebral Palsy

    ERIC Educational Resources Information Center

    Shevell, Michael I.; Majnemer, Annette; Poulin, Chantal; Law, Mary

    2008-01-01

    Classification of the quality and topographical pattern of motor impairment is used to describe cerebral palsy (CP). As an adjunct to a study characterizing the quality of life and participation of school-age children with CP, initial and follow-up classification of CP were compared. A cohort of 93 children (58 males, 35 females) were initially…

  8. Physical and Sedentary Activity in Adolescents with Cerebral Palsy

    ERIC Educational Resources Information Center

    Maher, Carol A.; Williams, Marie T.; Olds, Tim; Lane, Alison E.

    2007-01-01

    Participation in regular physical activity (PA) provides health, psychological, and physiological benefits for people with and without a physical disability. This study investigated the physical and sedentary activity patterns of adolescents with cerebral palsy (CP). A cross-sectional, descriptive, postal survey was used, consisting of the…

  9. Growth and Nutrition Disorders in Children with Cerebral Palsy

    ERIC Educational Resources Information Center

    Kuperminc, Michelle N.; Stevenson, Richard D.

    2008-01-01

    Growth and nutrition disorders are common secondary health conditions in children with cerebral palsy (CP). Poor growth and malnutrition in CP merit study because of their impact on health, including psychological and physiological function, healthcare utilization, societal participation, motor function, and survival. Understanding the etiology of…

  10. A 4-year-old Nigerian boy with cerebral palsy?

    PubMed

    Bodensteiner, John B

    2014-06-01

    A four year old with a diagnosis of congenital infection leading to cerebral palsy is presented. The patient instead has a condition called Leukoencephalopathy with bilateral temporal lobe cysts which can be differentiated from congenital CMV by the clinical and MRI findings.

  11. Human Evolution: The Real Cause for Birth Palsy

    PubMed Central

    Sreekanth, R; Thomas, BP

    2015-01-01

    ABSTRACT Objective: Birth palsy, otherwise known as obstetric brachial plexus paralysis (OBPP), is a closed stretch injury to the brachial plexus of nerves during the birth process resulting in varying degree of paralysis and contractures of the upper limb. The study aimed to find out the susceptibility of humans and small-bodied primates to birth palsy. Method: A comparative study on parturition in modern humans, hominoids, hominids, small-bodied primates and great apes was done to determine if changes in the female pelvis and neonatal head and shoulder during human evolution is the real cause for OBPP. Results: During evolution, the morphology of the female pelvis and birth canal changed into a narrow and twisted one and also the size of the fetal head increased. Thus, the narrow and twisted pelvis of the mother, and the relatively large head and broad shoulders of the newborn has made the birthing process of modern human and small bodied primates a precarious fine-tuned act with a very narrow margin for error. This has necessitated proper obstetric care to reduce or even at times obviate the incidence of birth injuries like OBPP. Conclusion: Human evolution has made human babies susceptible to birth palsy and thus is the real cause of birth palsy. PMID:26624599

  12. Dressing Techniques for Children Who Have Cerebral Palsy.

    ERIC Educational Resources Information Center

    Klein, Marsha Dunn

    This pamphlet offers general rules and specific suggestions for people who are dressing children with cerebral palsy. Common dressing problems are examined, such as the child becoming stiff, crossing the legs, or curling the toes, and possible solutions are outlined step-by-step and accompanied by illustrations. Guidelines are also provided for…

  13. Bathing Techniques for Children Who Have Cerebral Palsy.

    ERIC Educational Resources Information Center

    Dunaway, Avtar; Klein, Marsha Dunn

    Helpful techniques are offered for making bathtime easier, safer, and more fun for children who have cerebral palsy. Safety in the bathtub is stressed, both for the child who needs protection from slippery surfaces and extreme water temperature, and for the caregiver who must lift and carry the child without causing injury to the lower back.…

  14. Training Guide to Cerebral Palsy Sports. Third Edition.

    ERIC Educational Resources Information Center

    Jones, Jeffery A., Ed.

    This official training manual of the United States Cerebral Palsy Athletic Association includes the latest coaching and training techniques specific to all sports in the national program. The book features guidelines for coaching over a dozen sports, including soccer, swimming, cycling, and track and field. It contains everything coaches,…

  15. Bell's palsy: an update on idiopathic facial paralysis.

    PubMed

    Billue, J S

    1997-08-01

    Patients with Bell's palsy, or idiopathic facial paralysis, present sporadically in the primary care setting. New evidence implicates reactivated herpes simplex virus (HSV) as the etiologic agent in greater than 70% of cases diagnosed as Bell's palsy. Careful evaluation of the patient with facial paralysis, including history, physical examination, and diagnostic assessment, may mandate the expeditious treatment of facial paralysis to prevent faulty nerve regeneration during the recovery period. Using the results of an objective tool for grading resting facial symmetry, symmetry of voluntary movement, and synkinesis can provide a quantitative measurement for decision making. These data are also useful in documenting progression or regression of the patient's facial paralysis. Administration of acyclovir with prednisone improves the recovery of complete facial functioning following an episode of Bell's palsy. During the acute and convalescent stages, the eye on the affected side must be protected until function is restored to the facial nerve. Residual effects of Bell's palsy lasting more than 6 months may indicate another diagnosis and the need to refer the patient to a specialist.

  16. Modeling trajectories of regional volume loss in progressive supranuclear palsy.

    PubMed

    Josephs, Keith A; Xia, Rong; Mandrekar, Jay; Gunter, Jeffrey L; Senjem, Matthew L; Jack, Clifford R; Whitwell, Jennifer L

    2013-07-01

    Progressive supranuclear palsy is a neurodegenerative disease with progressive brain atrophy over time. It is unknown which specific brain regions decline over time, whether regional volume loss occurs in a linear fashion, and whether regional atrophy correlates with clinical decline over time in progressive supranuclear palsy. Twenty-eight subjects meeting probable progressive supranuclear palsy criteria were prospectively recruited and completed 96 MRI scans over 2 years. Mixed-effect models were utilized to determine which regions had significant atrophy over time and whether decline was linear or nonlinear. We assessed 13 regions across the brain, as well as whole-brain and ventricular volume. Regional trajectories were also correlated with change in clinical measures of executive function and gait and ocular motor impairment. A linear decline was observed in all frontal and temporal regions, the superior parietal lobe, the thalamus, the caudate nuclei, and the midbrain, as well as in the whole brain. Ventricular expansion was also linear. Nonlinear decline was observed for the caudal middle frontal lobe and globus pallidus. Rates of change in the superior frontal lobe, thalamus, and midbrain were beyond those expected in normal aging. Decline in frontal lobe volume and the midbrain area correlated best to decline in clinical measures. In progressive supranuclear palsy, atrophy is occurring in multiple brain regions, particularly in those that have previously been implicated in the disease. Decline is mainly linear but can be nonlinear for some regions. The frontal lobe and midbrain seem to be playing the most significant roles in the progressive worsening of clinical signs in progressive supranuclear palsy.

  17. Neuro-ophthalmological approach to facial nerve palsy

    PubMed Central

    Portelinha, Joana; Passarinho, Maria Picoto; Costa, João Marques

    2014-01-01

    Facial nerve palsy is associated with significant morbidity and can have different etiologies. The most common causes are Bell’s palsy, Ramsay–Hunt syndrome and trauma, including surgical trauma. Incidence varies between 17 and 35 cases per 100,000. Initial evaluation should include accurate clinical history, followed by a comprehensive investigation of the head and neck, including ophthalmological, otological, oral and neurological examination, to exclude secondary causes. Routine laboratory testing and diagnostic imaging is not indicated in patients with new-onset Bell’s palsy, but should be performed in patients with risk factors, atypical cases or in any case without resolution within 4 months. Many factors are involved in determining the appropriate treatment of these patients: the underlying cause, expected duration of nerve dysfunction, anatomical manifestations, severity of symptoms and objective clinical findings. Systemic steroids should be offered to patients with new-onset Bell’s palsy to increase the chance of facial nerve recovery and reduce synkinesis. Ophthalmologists play a pivotal role in the multidisciplinary team involved in the evaluation and rehabilitation of these patients. In the acute phase, the main priority should be to ensure adequate corneal protection. Treatment depends on the degree of nerve lesion and on the risk of the corneal damage based on the amount of lagophthalmos, the quality of Bell’s phenomenon, the presence or absence of corneal sensitivity and the degree of lid retraction. The main therapy is intensive lubrication. Other treatments include: taping the eyelid overnight, botulinum toxin injection, tarsorrhaphy, eyelid weight implants, scleral contact lenses and palpebral spring. Once the cornea is protected, longer term planning for eyelid and facial rehabilitation may take place. Spontaneous complete recovery of Bell’s palsy occurs in up to 70% of cases. Long-term complications include aberrant regeneration

  18. Use of Sensorimotor Functions for Early Identification and Neurohabilitation of Infants with Cerebral Palsy and/or Cerebral Palsy Precursors.

    ERIC Educational Resources Information Center

    Covey, Thomas J.

    1997-01-01

    Presents the use of six sensorimotor functions (SMF) as a screening test for cerebral palsy in neonates. Functions include sitting in air, self-pulling to sit, self-propelling Katona slide crawl, assisted crawling, and elementary walking. Nine case examples are provided in an appendix. (Author/CR)

  19. [A clinical case of progressive supranuclear palsy with long-term frontal presentation preceding the onset of gaze palsy].

    PubMed

    Yoshiike, Takuya; Ueda, Satoshi; Takahashi, Masahiko; Suda, Kiyoko; Furuta, Ko; Koyama, Keiko

    2014-01-01

    Progressive supranuclear palsy (PSP) is a neurodegenerative disorder with diverse clinical phenotypes characterized by supranuclear gaze palsy, parkinsonism with postural instability, and frontal dementia. The early and accurate diagnosis of PSP remains difficult because of the variable combination of symptoms and frequent lack of gaze abnormalities early in the disease course. Moreover, a subset of PSP shows behavioral changes as the initial presentation, which considerably overlaps with the clinical picture of frontotemporal dementia (FTD). Thus, this subgroup possibly needs psychiatric assessments. Here, we describe a clinical case of PSP difficult to differentiate from FTD because the frontal presentation persisted without gaze palsy until the late stage of the clinical course. A 58-year-old man was admitted to our hospital for the reconsideration of a diagnosis of FTD. Disinhibited and gambling behaviors inconsistent with his previous personality first appeared at around the age of 45, with gradual progression, followed by memory deficits, executive dysfunction, and a slowing of mental processes. Recurrent sexual disinhibition led him to undergo psychiatric consultation at the age of 57. Downward gaze palsy and postural instability with recurrent falls emerged 8 months after the first psychiatric examination, and he was clinically diagnosed with PSP 13 years after the initial frontal presentation. PSP should be considered in the differential diagnosis of patients presenting with frontal lobe symptoms, even in psychiatric practice.

  20. Progressive Bilateral Facial Palsy as a Manifestation of Granulomatosis With Polyangiitis: A Case Report

    PubMed Central

    2016-01-01

    Bilateral facial palsy, which is usually combined with other diseases, occurs infrequently. It may imply a life-threatening condition. Therefore, the differential diagnosis of bilateral facial palsy is important. However, the etiology is variable, which makes diagnosis challenging. We report a rare case of progressive bilateral facial palsy as a manifestation of granulomatosis with polyangiitis (GPA). A 40-year-old male with otitis media and right facial palsy was referred for electroneurography (ENoG), which showed a 7.7% ENoG. Left facial palsy occurred after 2 weeks, and multiple cavitary opacities were noted on chest images. GPA was diagnosed by lung biopsy. His symptoms deteriorated and mononeuropathy multiplex developed. The possibility of systemic disease, such as GPA, should be considered in patients presenting with bilateral facial palsy, the differential diagnosis of which is summarized in this report. PMID:27606281

  1. Is prepregnancy obesity associated with risk of cerebral palsy and epilepsy in children?

    PubMed

    Pan, Chun; Deroche, Chelsea B; Mann, Joshua R; McDermott, Suzanne; Hardin, James W

    2014-12-01

    We conducted a retrospective cohort study to investigate the association between prepregnancy obesity in women and risk of cerebral palsy and epilepsy in their children using data from the South Carolina Medicaid program. The cohort included 83,901 maternal-child pairs; 100 cases of cerebral palsy were initially identified, followed by 53 cases that had at least 2 cerebral palsy diagnoses. For confirmed epilepsy, diagnosed on at least 5 occasions or by more than 1 provider, 83,472 observations were included with 338 cases. There was no association between maternal body mass index and risk of childhood epilepsy. A significant association between increasing maternal body mass index and any diagnosis of cerebral palsy was found, and morbid obesity was associated with increased risk of any and confirmed cerebral palsy. In conclusion, there appears to be an association of maternal body mass index with cerebral palsy, but there is no evidence to support an association with epilepsy.

  2. Dermatoglyphic analyses in children with cerebral palsy.

    PubMed

    Simsek, S; Taskiran, H; Karakaya, N; Fistik, T; Solak, M; Cakmak, E A

    1998-01-01

    This study was intended to elucidate the diagnostic values of dermatoglyphic features on the 45 cerebral palsy (CP) patients (28 boys and 17 girls). There were 50 healthy children in the control group. Dermatoglyphic samples were obtained from the both groups by using the paper and ink method and than analysed. The types of dermal patterns of fingertips, the counts of total ridges, the counts of a-b ridges, the values of atd angles, presence or absence of dermal patterns in the hypothenar, thenar/I, II, III, IV interdigital areas, presence of absence of the palmar flexion lines, were compared between the children with CP and control group. It was found that arch, radial loop, whorl prints have increased and ulnar print has decreased in boys investigated which was significant statistically (p < 0.001). No difference was found between investigation and control groups of girls (p > 0.05). The total ridge counts in boys and girls of the investigation group were found significantly decreasing according to the control group (p < 0.001). There was an important decrease in the counts of a-b ridges of investigation group as compared to controls. It was significant in boys (p < 0.01) but not in girls (p > 0.05). The values of atd angles of the investigation group have increased in the control group (p < 0.001 in girls and p < 0.01 in boys). The dermal prints in the hypothenar, thenar/I, II, III and IV interdigital areas showed important differences in the investigation group when compared with the control group (p < 0.01). No clear distinction occurred between the two groups from the viewpoint of palmar flexion lines (p > 0.05). In conclusion, remarkable differences in comparison to controls were found in the dermatoglyphic features of CP cases. In our opinion, by undertaking more studies on the subject and examining a higher number of cases it will be possible to obtain useful data in CP cases indicative of etiologically.

  3. Association between Apolipoprotein E genotype and cerebral palsy is not confirmed in a Caucasian population.

    PubMed

    McMichael, Gai L; Gibson, Catherine S; Goldwater, Paul N; Haan, Eric A; Priest, Kevin; Dekker, Gustaaf A; MacLennan, Alastair H

    2008-11-01

    Apolipoprotein E (APOE) plays a significant role in lipid metabolism and has been implicated in the growth and repair of injured neurons. Two small studies have suggested an association between APOE genotype and cerebral palsy. We investigated if APOE genotype is associated with an increased risk for cerebral palsy, influences the type of cerebral palsy or interacts with prenatal viral infection to influence risk of cerebral palsy. The population-based case-control study comprised newborn screening cards of 443 Caucasian patients with cerebral palsy and 883 Caucasian matched controls. APOE genotyping was performed on DNA extracted from dried blood spots. Allelic and genotypic frequencies did not differ between cases and controls and combined frequencies were 0.10 (epsilon2), 0.76 (epsilon3), 0.14 (epsilon4), 0.03 (epsilon2/epsilon2), 0.10 (epsilon2/epsilon3), 0.03 (epsilon2/epsilon4), 0.02 (epsilon4/epsilon4), 0.21 (epsilon3/epsilon4), 0.61 (epsilon3/epsilon3). APOE genotype was correlated with cerebral palsy, type of cerebral palsy, gestation at birth and the presence of viral nucleic acids detected in previous work. Analysis by gestational age (all gestational ages, >/=37, 32-36 and <32 weeks) and type of cerebral palsy (all types, diplegia, hemiplegia and quadriplegia) showed no association between APOE genotype and cerebral palsy in this Caucasian population. An association between prenatal viral infection, APOE genotype and cerebral palsy was not demonstrated. These results did not confirm an association between APOE genotype, cerebral palsy, type of cerebral palsy and prenatal infection in a Caucasian population. Given the low frequency of APOE epsilon2 and some of the heterozygote and homozygote combinations in this study, a larger study is assessing this further.

  4. Transient facial nerve paralysis (Bell's palsy) following administration of hepatitis B recombinant vaccine: a case report.

    PubMed

    Paul, R; Stassen, L F A

    2014-01-01

    Bell's palsy is the sudden onset of unilateral transient paralysis of facial muscles resulting from dysfunction of the seventh cranial nerve. Presented here is a 26-year-old female patient with right lower motor neurone facial palsy following hepatitis B vaccination. Readers' attention is drawn to an uncommon cause of Bell's palsy, as a possible rare complication of hepatitis B vaccination, and steps taken to manage such a presentation.

  5. Three-dimensional In Vivo Quantification of Knee Kinematics in Cerebral Palsy

    PubMed Central

    Seisler, Andrea R.; Alter, Katharine E.

    2008-01-01

    Cerebral palsy is the most common disabling condition in childhood, involving a diverse group of movement and posture disorders of varying etiologies. Yet, much is unknown about how cerebral palsy affects individual joints because currently applied techniques cannot quantify the three-dimensional kinematic parameters at the joint level. We quantified the effects of cerebral palsy at the knee using fast phase contrast MRI, with the ultimate intent of improving the assessment of joint impairments associated with cerebral palsy, improving clinical outcomes, and reducing the impact of cerebral palsy on function. We addressed three questions: (1) Can patients with cerebral palsy perform the required repetitive extension task? (2) Which of the 12 degrees of freedom defining complete knee kinematics are abnormal in individual patients with cerebral palsy and is the patellar tendon moment arm abnormal in these patients? (3) Are the individual kinematic differences consistent with clinical observations? All patients were able to perform the required task. We found kinematic differences for each patient with cerebral palsy consistent with clinical findings, in comparison to an able-bodied population. Fast phase contrast MRI may allow differentiation of patellofemoral and tibiofemoral function in various functional subtypes of cerebral palsy, providing insights into its management. PMID:18196431

  6. Bell's palsy and herpes viruses: to (acyclo)vir or not to (acyclo)vir?

    PubMed

    Steiner, I; Mattan, Y

    1999-11-15

    The majority of peripheral seventh cranial nerve palsy cases remain without an identified etiology and will eventually be diagnosed as idiopathic or Bell's palsy. Some features of this condition may be characteristic of a viral infection. Indeed, several herpes viruses have been implicated as potential causative pathogens. Besides varicella-zoster virus, shown to cause Bell's palsy under the Ramsay-Hunt syndrome, recent years have seen an increased interest and focus on the possible herpes simplex virus type 1 (HSV-1) etiology in idiopathic facial paralysis. We review the clinical, biological and virological basis for the potential herpetic cause of Bell's palsy and the rational for antiviral therapy in this condition.

  7. Relationship between static postural control and the level of functional abilities in children with cerebral palsy

    PubMed Central

    Pavão, Sílvia L.; Nunes, Gabriela S.; Santos, Adriana N.; Rocha, Nelci A. C. F.

    2014-01-01

    Background: Postural control deficits can impair functional performance in children with cerebral palsy (CP) in daily living activities. Objective: To verify the relationship between standing static postural control and the functional ability level in children with CP. Method: The postural control of 10 children with CP (gross motor function levels I and II) was evaluated during static standing on a force platform for 30 seconds. The analyzed variables were the anteroposterior (AP) and mediolateral (ML) displacement of the center of pressure (CoP) and the area and velocity of the CoP oscillation. The functional abilities were evaluated using the mean Pediatric Evaluation of Disability Inventory (PEDI) scores, which evaluated self-care, mobility and social function in the domains of functional abilities and caregiver assistance. Results: Spearman's correlation test found a relationship between postural control and functional abilities. The results showed a strong negative correlation between the variables of ML displacement of CoP, the area and velocity of the CoP oscillation and the PEDI scores in the self-care and caregiver assistance domains. Additionally, a moderate negative correlation was found between the area of the CoP oscillation and the mobility scores in the caregiver assistance domain. We used a significance level of 5% (p <0.05). Conclusions: We observed that children with cerebral palsy with high CoP oscillation values had lower caregiver assistance scores for activities of daily living (ADL) and consequently higher levels of caregiver dependence. These results demonstrate the repercussions of impairments to the body structure and function in terms of the activity levels of children with CP such that postural control impairments in these children lead to higher requirements for caregiver assistance. PMID:25054383

  8. Bell palsy in lyme disease-endemic regions of canada: a cautionary case of occult bilateral peripheral facial nerve palsy due to Lyme disease.

    PubMed

    Ho, Karen; Melanson, Michel; Desai, Jamsheed A

    2012-09-01

    Lyme disease caused by the spirochete Borrelia burgdorferi is a multisystem disorder characterized by three clinical stages: dermatologic, neurologic, and rheumatologic. The number of known Lyme disease-endemic areas in Canada is increasing as the range of the vector Ixodes scapularis expands into the eastern and central provinces. Southern Ontario, Nova Scotia, southern Manitoba, New Brunswick, and southern Quebec are now considered Lyme disease-endemic regions in Canada. The use of field surveillance to map risk and endemic regions suggests that these geographic areas are growing, in part due to the effects of climate warming. Peripheral facial nerve palsy is the most common neurologic abnormality in the second stage of Lyme borreliosis, with up to 25% of Bell palsy (idiopathic peripheral facial nerve palsy) occurring due to Lyme disease. Here we present a case of occult bilateral facial nerve palsy due to Lyme disease initially diagnosed as Bell palsy. In Lyme disease-endemic regions of Canada, patients presenting with unilateral or bilateral peripheral facial nerve palsy should be evaluated for Lyme disease with serologic testing to avoid misdiagnosis. Serologic testing should not delay initiation of appropriate treatment for presumed Bell palsy.

  9. Bell's palsy: data from a study of 70 cases.

    PubMed

    Cirpaciu, D; Goanta, C M

    2014-01-01

    Bell's palsy is a condition that affects the facial nerve, which is one of the twelve cranial nerves. Its main function is to control all the muscles of the facial expression. It is a unilateral, acute, partial or complete paralysis of the facial nerve. Bell's palsy remains the most common cause of facial nerve paralysis, more often encountered in females aged 17 to 30 years, recurrent in many cases and with poor associations with other pathologic conditions. In modern literature, the suspected etiology could be due to the reactivation of the latent herpes viral infections in the geniculate ganglia, and their subsequent migration to the facial nerve but, favorable outcome by using vasodilators, neurotrophic and corticosteroid therapy was recorded.

  10. Trends in communicative access solutions for children with cerebral palsy.

    PubMed

    Myrden, Andrew; Schudlo, Larissa; Weyand, Sabine; Zeyl, Timothy; Chau, Tom

    2014-08-01

    Access solutions may facilitate communication in children with limited functional speech and motor control. This study reviews current trends in access solution development for children with cerebral palsy, with particular emphasis on the access technology that harnesses a control signal from the user (eg, movement or physiological change) and the output device (eg, augmentative and alternative communication system) whose behavior is modulated by the user's control signal. Access technologies have advanced from simple mechanical switches to machine vision (eg, eye-gaze trackers), inertial sensing, and emerging physiological interfaces that require minimal physical effort. Similarly, output devices have evolved from bulky, dedicated hardware with limited configurability, to platform-agnostic, highly personalized mobile applications. Emerging case studies encourage the consideration of access technology for all nonverbal children with cerebral palsy with at least nascent contingency awareness. However, establishing robust evidence of the effectiveness of the aforementioned advances will require more expansive studies.

  11. Communication impairments in people with progressive supranuclear palsy: A tutorial.

    PubMed

    Kim, Jae-Hyun; McCann, Clare M

    2015-01-01

    Progressive supranuclear palsy (PSP) is a progressive neurological condition, whose main features include supranuclear gaze palsy, frequent falls, bradykinesia, axial rigidity, cognitive decline and communication impairments. Even though communication impairments are early and prominent manifestations, there is a significant lack of research on the nature of these impairments in PSP and the role of speech-language pathologists (SLPs). This tutorial article aims to describe the communication impairments observed in people with PSP; provide clinical guidelines for SLPs when assessing motor speech, language and other communication impairments; and to present facilitation and compensation approaches to treatment for people with PSP. The predominant motor speech impairment is mixed dysarthria, but there is a lack of consensus about the classification of language impairments. The involvement of SLPs in the assessment and treatment of people with PSP should be early, on-going and in collaboration with other health professionals, with the primary focus of maintaining quality of life for these patients and their family members.

  12. Bruxism Control in a Child with Cerebral Palsy

    PubMed Central

    Oliveira, Cristiana Aroeira G. R.; de Paula, Viviane Andrade Cancio; Portela, Maristela Barbosa; Primo, Laura Salignac Guimarães; Castro, Gloria Fernanda

    2011-01-01

    Cerebral palsy (CP) is one of the most severe childhood disabilities due to a lesion in the developing brain. Oral conditions often observed in this pathogenic are a tendency for the delayed eruption of permanent molars, higher percentages of malocclusion and parafunctional habits, including bruxism. The significance of oral conditions observed in CP patients demonstrates the need for intensive home and professional care for these individuals. This paper presents a 7-year-old boy, with cerebral palsy, severe mental retardation, who had high abrasion wear of the primary teeth related to bruxism. Dental care was carried out under oxide-induced sedation, and management of the bruxism was achieved after the use of a resin acrylic protective appliance fixed on both sides of the mandibula. The treatment performed offered efficiency advantages, was clinically viable, and should be a valuable option to practitioners considering appliance therapy to control parafunctional behavior. PMID:21991456

  13. The abnormal nucleus as a cause of congenital facial palsy

    PubMed Central

    Jemec, B.; Grobbelaar, A.; Harrison, D.

    2000-01-01

    BACKGROUND—Congenital facial palsy (CFP) is clinically defined as facial palsy present at birth. It is associated with considerable disfigurement and causes functional and emotional problems for the affected child. The aetiology of the majority of cases however, remains elusive.
AIMS—To investigate the role of a neuroanatomical abnormality as a cause of unilateral CFP.
METHODS—Magnetic resonance imaging (MRI) scans were performed on 21 patients with unilateral CFP. Fifteen patients had unilateral CFP only; six suffered from syndromes which can include unilateral CFP.
RESULTS—Of the 15 patients with unilateral CFP only, four (27%) had an abnormal nucleus or an abnormal weighting of this area on the MRI scan, compared to one (17%) of the remaining six patients.
CONCLUSION—Developmental abnormalities of the facial nucleus itself constitute an important, and previously ignored, cause of monosymptomatic unilateral CFP.

 PMID:10952650

  14. Complete Spinal Accessory Nerve Palsy From Carrying Climbing Gear.

    PubMed

    Coulter, Jess M; Warme, Winston J

    2015-09-01

    We report an unusual case of spinal accessory nerve palsy sustained while transporting climbing gear. Spinal accessory nerve injury is commonly a result of iatrogenic surgical trauma during lymph node excision. This particular nerve is less frequently injured by blunt trauma. The case reported here results from compression of the spinal accessory nerve for a sustained period-that is, carrying a load over the shoulder using a single nylon rope for 2.5 hours. This highlights the importance of using proper load-carrying equipment to distribute weight over a greater surface area to avoid nerve compression in the posterior triangle of the neck. The signs and symptoms of spinal accessory nerve palsy and its etiology are discussed. This report is particularly relevant to individuals involved in mountaineering and rock climbing but can be extended to anyone carrying a load with a strap over one shoulder and across the body.

  15. Cerebral Palsy: A Lifelong Challenge Asks for Early Intervention

    PubMed Central

    Panteliadis, Christos P; Hagel, Christian; Karch, Dieter; Heinemann, Karl

    2015-01-01

    One of the oldest and probably well-known examples of cerebral palsy is the mummy of the Pharaoh Siptah about 1196–1190 B.C., and a letter from Hippocrates (460–390 B.C.). Cerebral palsy (CP) is one of the most common congenital or acquired neurological impairments in paediatric patients, and refers to a group of children with motor disability and related functional defects. The visible core of CP is characterized by abnormal coordination of movements and/or muscle tone which manifest very early in the development. Resulting from pre- or perinatal brain damage CP is not a progressive condition per se. However, without systematic medical and physiotherapeutic support the dystonia leads to muscle contractions and to deterioration of the handicap. Here we review the three general spastic manifestations of CP hemiplegia, diplegia and tetraplegia, describe the diagnostic procedures and delineate a time schedule for an early intervention. PMID:26191093

  16. Oral baclofen in cerebral palsy: possible seizure potentiation?

    PubMed

    Hansel, Donna E; Hansel, Christian R W; Shindle, Michael K; Reinhardt, Elsie M; Madden, LaVerne; Levey, Eric B; Johnston, Michael V; Hoon, Alexander H

    2003-09-01

    Baclofen, a gamma-aminobutyric acid agonist, is widely used to treat spasticity of cerebral and spinal origin. Patients with both acute baclofen overdose and withdrawal have developed seizures. After several reports of new-onset seizures in children treated with oral baclofen at our institution, we reviewed our experience regarding possible effects of baclofen on seizure induction in a childhood movement disorders program over a 2-year period. Of 54 children (ages 1-10) treated with oral baclofen, 19 (35%) had a prior history of seizures. Five children (14%) developed new-onset seizures after starting baclofen. Although epilepsy is very common in children with cerebral palsy, these findings raise the possibility that baclofen may potentiate seizures in certain young children with cerebral palsy. Further study of the effects of baclofen on seizures is warranted.

  17. Treatment of the spasticity in children with cerebral palsy.

    PubMed

    Meholjić-Fetahović, Ajsa

    2007-11-01

    Botulinum toxin is a natural purified protein and one of the strongest biological poisons--neurotoxin. It is produced by the bacterium Clostridium botulinum. Its medical usage started in USA in 1981 and in Europe in 1992. There are seven different immune types of the toxin: A, B, C1, D, E, F and G. Toxin types A and B are used to decrease muscular spasticity. Botulinum toxin prevents the formation of acetylcholine from cholinergic nerve tissues in muscles, which in the end irreversibly destroys neuromuscular synapses. It is called temporary local chemodenervation. It does not affect the synthesis of acetylcholine. As it affects neuromuscular bond it also affects one of the symptoms of cerebral palsy--spasticity. Decreasing the spasticity of children with cerebral palsy leads to the improvement of conscious movements, muscles are less toned, passive mobility is improved, orthosis tolerance is also improved, and the child is enabled to perform easier and better motor functions such as crawling, standing and walking. Since the action of Botulinum toxin is limited to 2-6 months, new neural collaterals are formed and neuromuscular conductivity is reestablished which in the end once again develops a muscular spasm. This leads to a conclusion that botulinum toxin should again be applied into spastic muscles. It is very important for good effect of Botulinum toxin to set the goals of the therapy in advance. The goals include improvement of a function, prevention of contractions and deformities, ease of care and decrease of pain for children with cerebral palsy. After application of botulinum toxin, it is necessary to perform adequate and intensive physical treatment with regular monitoring of effects. This work shows a case of a boy with spastic form of cerebral palsy. After being rehabilitated using Vojta therapy and Bobath concept and the conduct of certain physical procedures, botulinum toxin is administered into his lower limbs' muscles and kinesiotherapy is

  18. Psoas and adductor release in children with cerebral palsy.

    PubMed

    Spruit, M; Fabry, G

    1997-06-01

    In a retrospective study of 12 cerebral palsy patients with 17 hips treated for subluxation, clinical and radiographic results of psoas and adductor releases were reviewed. With an average follow-up of 4.05 years, the functional ability was improved in 3 spastic quadriplegics and 3 diplegics and maintained in 6 other patients. The CE-angle and femoral head coverage did not change significantly. The AC-index improved significantly (p = 0.01).

  19. Feeding and Gastrointestinal Problems in Children with Cerebral Palsy

    ERIC Educational Resources Information Center

    Erkin, Gulten; Culha, Canan; Ozel, Sumru; Kirbiyik, Eylem Gulsen

    2010-01-01

    The aim of our study was to identify feeding and gastrointestinal system (GIS) problems in children with cerebral palsy (CP), and to evaluate the relationship between these problems and the severity of CP. A total of 120 children with CP were enrolled consecutively into the study (67 males, 53 females; mean age: 6.0[plus or minus]2.4 years; range:…

  20. Peroneal palsy after bariatric surgery; is nerve decompresion always necessary?

    PubMed

    Ramos-Leví, Ana M; Matías-Guiu, Jordi A; Guerrero, Antonio; Sánchez-Pernaute, Andrés; Rubio, Miguel A

    2013-01-01

    We present two patients who underwent successful bariatric surgery and developed peroneal nerve palsy six months after the procedure. This is an unusual complication which determines a significant functional limitation, mainly because of foot drop, and its presence may be a hallmark of excessive and rapid weight loss. We discuss possible pathogenic mechanisms and therapeutic options, and we emphasize the important role of an adequate nutritional management, in order to avoid the need for a surgical nerve decompression.

  1. [Pilot study on facial palsy correction with suture suspension].

    PubMed

    Navarrete Álvaro, María Luisa; Knäpper, Jennifer; Boemo, Rafael; Torrent, Lluisa

    2011-01-01

    We present a pilot study to evaluate the benefit of static facial suspension with Silhouette sutures. We operated on a female patient with complete facial palsy secondary to otic tuberculosis. The patient has currently achieved satisfactory facial symmetry, mastication and speech production. As a result, self-esteem and social interaction have also been recovered. Static facial suspension with Silhouette sutures is an alternative to dynamic techniques in patients who do not wish to or cannot undergo those more complex surgeries.

  2. Medial rectus muscle anchoring in complete oculomotor nerve palsy.

    PubMed

    Lee, Si Hyung; Chang, Jee Ho

    2015-10-01

    The management of exotropia resulting from complete oculomotor nerve palsy is challenging. Conventional therapeutic interventions, including supramaximal resection and recession, superior oblique tendon resection and transposition, and several ocular anchoring procedures have yielded less-than-adequate results. Here we describe a novel surgical technique of anchoring the medial rectus muscle to the medial orbital wall in combination with lateral rectus disinsertion and reattachment to the lateral orbital wall.

  3. Grip Force Coordination during Bimanual Tasks in Unilateral Cerebral Palsy

    ERIC Educational Resources Information Center

    Islam, Mominul; Gordon, Andrew M.; Skold, Annika; Forssberg, Hans; Eliasson, Ann-Christin

    2011-01-01

    Aim: The aim of the study was to investigate coordination of fingertip forces during an asymmetrical bimanual task in children with unilateral cerebral palsy (CP). Method: Twelve participants (six males, six females; mean age 14y 4mo, SD 3.3y; range 9-20y;) with unilateral CP (eight right-sided, four left-sided) and 15 age-matched typically…

  4. Cognitive Profile in Young Icelandic Children with Cerebral Palsy

    ERIC Educational Resources Information Center

    Sigurdardottir, Solveig; Eiriksdottir, Audur; Gunnarsdottir, Eva; Meintema, Marrit; Arnadottir, Unnur; Vik, Torstein

    2008-01-01

    We describe the cognitive profile in a complete national cohort of children with cerebral palsy (CP). One hundred and twenty-seven Icelandic children (67 females, 60 males) with CP, born between 1985 and 2000 and assessed between the ages of 4 and 6 years 6 months (mean age 5y 5mo, SD 6mo), were included in the study. IQ was measured using the…

  5. Impaired Voluntary Movement Control and Its Rehabilitation in Cerebral Palsy.

    PubMed

    Gordon, Andrew M

    2016-01-01

    Cerebral palsy is caused by early damage to the developing brain, as the most common pediatric neurological disorder. Hemiplegia (unilateral spastic cerebral palsy) is the most common subtype, and the resulting impairments, lateralized to one body side, especially affect the upper extremity, limiting daily function. This chapter first describes the pathophysiology and mechanisms underlying impaired upper extremity control of cerebral palsy. It will be shown that the severity of impaired hand function closely relates to the integrity of the corticospinal tract innervating the affected hand. It will also shown that the developing corticospinal tract can reorganize its connectivity depending on the timing and location of CNS injury, which also has implications for the severity of hand impairments and rehabilitation. The mechanisms underlying impaired motor function will be highlighted, including deficits in movement execution and planning and sensorimotor integration. It will be shown that despite having unimanual hand impairments, bimanual movement control deficits and mirror movements also impact function. Evidence for motor learning-based therapies including Constraint-Induced Movement Therapy and Bimanual Training, and the possible pathophysiological predictors of treatment outcome and plasticity will be described. Finally, future directions for rehabilitations will be presented.

  6. Sevoflurane affects evoked electromyography monitoring in cerebral palsy

    PubMed Central

    Chen, Xin; Xu, Lufeng; Wang, Yuanlin; Xu, Feng; Du, Yemu

    2016-01-01

    Abstract Background To explore the effect of sevoflurane inhalation anesthesia on evoked electromyography monitoring of spinal nerve root in children associated with cerebral palsy. Methodology Children with cerebral palsy (n=40) were selected and further divided into 1MAC (minimum alveolar concentration) sevoflurane group and 2MAC sevoflurane group. Following the induction of anesthesia, Nicolet Endeavor-CR16 channel electrophysiological monitor was used to implement three times of successive electrical stimulation with interval of 5 sec at 3.50 mA. Results Our results suggested a statistical significance of amplitude retention ratio and latency in the sevoflurane inhalation time (P<0.01), with an interaction effect between the sevoflurane inhalation time and concentration for amplitude retention ratio (P<0.01), while there is no interaction effect between the sevoflurane inhalation time and concentration for latency (P>0.05). Compared to 1MAC sevoflurane group, the amplitude retention ratio of 2MAC sevoflurane group decreased remarkably (P<0.01) and the latency of 2MAC sevoflurane group extended at T3 and T4 (P<0.05 or P<0.01). Conclusions In evoked electromyography monitoring of spinal nerve root in children with cerebral palsy, with the increasing of concentration and duration of sevoflurane inhalation, evoked electromyogram retention ratio reduces gradually, latency extends and the retention ratio has more changes than the latency. PMID:28352782

  7. Effects of administration of high dose hydrocortisone on Bell's palsy.

    PubMed

    Watanabe, S; Kenmochi, M; Kinoshita, H; Kato, I

    1996-01-01

    As an improved maintenance therapy for Bell's palsy, Stennert recently introduced large-dose steroid administration in the early stage of the disease with i.v. infusion of low-molecular dextran. The steroid administration aims at improving the microcirculation. This therapy achieved a 96% complete healing rate. However, because of side-effects such as hepatic and renal disorders or gastric ulcer, this therapy has not been widely used. In the present study, we investigated an improved treatment method based on Stennert's method. It has a much lower incidence of side effects, and can be used in routine clinical practice. The medicines employed in our therapy were hydrocortisone sodium succinate (Solu-cortef), hydroxymethylated starch (Hespander) and D-mannitol (Manitol). Subjects were 53 Bell's palsy patients for whom treatment could be started within 2 weeks from the onset of the disease. Curative rate in the patients who received large-dose administration of Solu-cortef was 96.2% in the 24th week, and the therapy was considered to be applicable in routine clinical practice for Bell's palsy.

  8. Saccadic palsy following cardiac surgery: a review and new hypothesis

    PubMed Central

    Eggers, Scott D. Z.; Horn, Anja K. E.; Roeber, Sigrun; Härtig, Wolfgang; Nair, Govind; Reich, Daniel S.; Leigh, R. John

    2014-01-01

    The ocular motor system provides several advantages for studying the brain, including well-defined populations of neurons that contribute to specific eye movements. Generation of rapid eye movements (saccades) depends on excitatory burst neurons (EBNs) and omnipause neurons (OPNs) within the brain stem; both types of cell are highly active. Experimental lesions of EBNs and OPNs cause slowing or complete loss of saccades. We report a patient who developed a permanent, selective saccadic palsy following cardiac surgery. When she died several years later, surprisingly, autopsy showed preservation of EBNs and OPNs. We therefore considered other mechanisms that could explain her saccadic palsy. Recent work has shown that both EBNs and OPNs are ensheathed by perineuronal nets (PNs), which are specialized extracellular matrix structures that may help stabilize synaptic contacts, promote local ion homeostasis, or play a protective role in certain highly active neurons. Here, we review the possibility that damage to PNs, rather than to the neurons they support, could lead to neuronal dysfunction—such as saccadic palsy. We also suggest how future studies could test this hypothesis, which may provide insights into the vulnerability of other active neurons in the nervous system that depend on PNs. PMID:25721480

  9. [Comprehensive approach to cerebral palsy: changes of concept in Japan].

    PubMed

    Kodama, K

    1998-05-01

    Cerebral palsy is associated not merely with impairments of posture and locomotion, but also with various other problems. Medical illnesses should be treated by an adequate system. Emotional disturbances require a psychological support. Communication disorders may be overcome with proper modern equipments Perceptional deficits and sensory impairments should also be addressed. Care systems for physically handicapped children in Japan were established by the concept of ryoiku, a term in Japanese created about fifty years ago by K. Takagi, Professor of the Department of Orthopedics, University of Tokyo. This term can hardly be translated into English, bot in my view stands for a comprehensive approach comprising orthopedic treatments, educational programs and vocational trainings. Based on this concept, Dr. Takagi founded an institution for the physically handicapped in 1942; followed by establishment of similar institutions in all areas of Japan after World War II. Despite its historical role, ryoiku does not meet any more the current standard of care for cerebral palsy. We need now a new comprehensive term and management systems. A novel medical subdivision "medicine for developmental handicaps" may also be necessory. In this paper I made an overview of current problems of children and adults with cerebral palsy. I proposed a new concept of ryoiku and emphasized the need for the new medicine to treat developmental handicaps.

  10. A diagnostic approach for cerebral palsy in the genomic era.

    PubMed

    Lee, Ryan W; Poretti, Andrea; Cohen, Julie S; Levey, Eric; Gwynn, Hilary; Johnston, Michael V; Hoon, Alexander H; Fatemi, Ali

    2014-12-01

    An ongoing challenge in children presenting with motor delay/impairment early in life is to identify neurogenetic disorders with a clinical phenotype, which can be misdiagnosed as cerebral palsy (CP). To help distinguish patients in these two groups, conventional magnetic resonance imaging of the brain has been of great benefit in "unmasking" many of these genetic etiologies and has provided important clues to differential diagnosis in others. Recent advances in molecular genetics such as chromosomal microarray and next-generation sequencing have further revolutionized the understanding of etiology by more precisely classifying these disorders with a molecular cause. In this paper, we present a review of neurogenetic disorders masquerading as cerebral palsy evaluated at one institution. We have included representative case examples children presenting with dyskinetic, spastic, and ataxic phenotypes, with the intent to highlight the time-honored approach of using clinical tools of history and examination to focus the subsequent etiologic search with advanced neuroimaging modalities and molecular genetic tools. A precise diagnosis of these masqueraders and their differentiation from CP is important in terms of therapy, prognosis, and family counseling. In summary, this review serves as a continued call to remain vigilant for current and other to-be-discovered neurogenetic masqueraders of cerebral palsy, thereby optimizing care for patients and their families.

  11. Health Care Transition Experiences of Young Adults With Cerebral Palsy.

    PubMed

    Carroll, Ellen McLaughlin

    2015-01-01

    Health care transition (HCT) describes the purposeful, planned movement of adolescents from child to adult-orientated care. The purpose of this qualitative study is to uncover the meaning of transition to adult-centered care as experienced by young adults with cerebral palsy (YA-CP) through the research question: What are the lived experiences of young adults with cerebral palsy transitioning from pediatric to adult healthcare? Six females and 3 males, aged 19-25 years of age, who identified as carrying the diagnosis of cerebral palsy without cognitive impairment, were interviewed. Giorgi's (1985) method for analysis of phenomenology was the framework for the study and guided the phenomenological reduction. The meaning of the lived experiences of YA-CPs transition to adult health care is expert novices with evidence and experience-based expectations, negotiating new systems interdependently and accepting less than was expected. More information and support is needed for the YA-CP during transition to ensure a well-organized move to appropriate adult-oriented health care that is considerate of the lifelong impact of the disorder. The nurses' role as advocate, mentor and guide can optimize the individual's response to the transition process.

  12. Esophageal eosinophilia in pediatric patients with cerebral palsy

    PubMed Central

    de Nápolis, Ana Carolina Ramos; Alves, Flavia Araujo; Rezende, Erica Rodrigues Mariano de Almeida; Segundo, Gesmar Rodrigues Silva

    2015-01-01

    ABSTRACT Objective: To describe the clinical picture, test results, and clinical evolution of patients with cerebral palsy associated with diagnosis of eosinophilic esophagitis, monitored at tertiary centre. Methods: Cross-sectional, retrospective and descriptive study that evaluated the medical records data of pediatric patients with diagnosis of cerebral palsy and eosinophilic esophagitis in a tertiary center of pediatric gastroenterology between August 2005 and August 2013. Results: Seven out of 131 patients with cerebral palsy had the diagnosis of eosinophilic esophagitis. The mean age at diagnosis of eosinophilic esophagitis was 52.3 months and the mean number of eosinophils in esophagus was 35 per high-power field. Symptoms more frequent were recurrent vomiting and disphagia. Endoscopic alterations found were mucosal thickening, vertical lines, mucosal opacificacion and white plaques. Conclusion: The frequency of eosinophilic esophagitis found was higher than in general pediatric population. The investigation of eosinophilic esophagitis should be done regularly in those patients, once this entity could overlap other gastrointestinal diseases. PMID:26154544

  13. Food pattern and nutritional status of children with cerebral palsy

    PubMed Central

    Lopes, Patrícia Ayrosa C.; Amancio, Olga Maria S.; Araújo, Roberta Faria C.; Vitalle, Maria Sylvia de S.; Braga, Josefina Aparecida P.

    2013-01-01

    OBJECTIVES To assess the food intake pattern and the nutritional status of children with cerebral palsy. METHODS Cross-sectional study with 90 children from two to 12.8 years with cerebral palsy in the following forms: hemiplegia, diplegia, and tetraplegia. Nutritional status was assessed by weight, height, and age data. Food intake was verified by the 24-hour recall and food frequency questionnaire. The ability to chew and/or swallowing, intestinal habits, and physical activity were also evaluated. RESULTS For 2-3 year-old age group, the mean energy intake followed the recommended range; in 4-6 year-old age group with hemiplegia and tetraplegia, energy intake was below the recommended limits. All children presented low intake of carbohydrates, adequate intake of proteins and high intake of lipids. The tetraplegia group had a higher prevalence of chewing (41%) and swallowing (12.8%) difficulties compared to 14.5 and 6.6% of children with hemiplegia, respectively. Most children of all groups had a daily intestinal habit. All children presented mild physical activity, while moderate activity was not practiced by any child of the tetraplegia group, which had a significantly lower height/age Z score than those with hemiplegia (-2.14 versus -1.05; p=0.003). CONCLUSIONS The children with cerebral palsy presented inadequate dietary pattern and impaired nutritional status, with special compromise of height. Tetraplegia imposes difficulties regarding chewing/swallowing and moderate physical activity practice. PMID:24142317

  14. A Diagnostic Approach for Cerebral Palsy in the Genomic Era

    PubMed Central

    Lee, Ryan W.; Poretti, Andrea; Cohen, Julie S.; Levey, Eric; Gwynn, Hilary; Johnston, Michael V.; Hoon, Alexander H.; Fatemi, Ali

    2014-01-01

    An ongoing challenge in children presenting with motor delay/impairment early in life is to identify neurogenetic disorders with a clinical phenotype which can be misdiagnosed as cerebral palsy (CP). To help distinguish patients in these two groups, conventional magnetic resonance imaging (MRI) of the brain has been of great benefit in “unmasking” many of these genetic etiologies and has provided important clues to differential diagnosis in others. Recent advances in molecular genetics such as chromosomal microarray and next generation sequencing have further revolutionized the understanding of etiology by more precisely classifying these disorders with a molecular cause. In this paper, we present a review of neurogenetic disorders masquerading as cerebral palsy evaluated at one institution. We have included representative case examples children presenting with dyskinetic, spastic and ataxic phenotypes, with the intent to highlight the time honored approach of using clinical tools of history and examination to focus the subsequent etiologic search with advanced neuroimaging modalities and molecular genetic tools. A precise diagnosis of these masqueraders and their differentiation from CP is important in terms of therapy, prognosis, and family counseling. In summary, this review serves as a continued call to remain vigilant for current and other to-be-discovered neurogenetic masqueraders of cerebral palsy, thereby optimizing care for patients and their families. PMID:25280894

  15. Cerebral Palsy In Adults Consequences of Non Progressive Pathology

    PubMed Central

    Mezaal, Mohammed Abdulelah; Nouri, Kasid A; Abdool, Shareefa; Safar, Khalid Al; Nadeem, Ahmed S.M

    2009-01-01

    Objective: Cerebral palsy (CP) is a disability that affects individuals throughout their lifespan. This study was conducted to evaluate the clinical status of adults with cerebral palsy. Methods: A cross-sectional study was carried out during the period of February 2001 to June 2002, in Baghdad, Iraq. Fifty young adult men with cerebral palsy were evaluated by reviewing their medical records and present clinical status. Results: Antenatal maternal medical problems were recorded in 17 (34%) cases. Kernicterus was the most common possible cause occurring in 14 (28%) cases. Spastic hemiplegia was reported in 16 (32%) patients. Various forms of combinations occured in 14 (28%) cases. Of the secondary disabilities, musculoskeletal disorders were the most common (60%), followed by epilepsy (42%), mental retardation (40%), speech disorders (30%), bladder dysfunction (4%) and visual impairment (2%). Relationships between musculoskeletal deformities and the development of mental retardation were statistically significant (P value 0.0001) . Conclusion: Adults with CP are at risk of many highly preventable secondary conditions that cause loss of function and deterioration of quality of life. PMID:19452032

  16. Hip salvage surgery in cerebral palsy cases: a systematic review.

    PubMed

    de Souza, Rafael Carboni; Mansano, Marcelo Valentim; Bovo, Miguel; Yamada, Helder Henzo; Rancan, Daniela Regina; Fucs, Patricia Maria de Moraes Barros; Svartman, Celso; de Assumpção, Rodrigo Montezuma César

    2015-01-01

    Imbalance and muscle spasticity, in association with coxa valga and persistent femoral anteversion, compromises hip development in cases of cerebral palsy and may result in chronic pain and even dislocation. Some of these hips undergo salvage surgery because of the severe impact of their abnormalities in these patients' quality of life. We conducted a systematic review of the literature to compare the results from the main hip salvage techniques applied to these individuals. The literature search focused on studies that evaluated results from hip salvage surgery in cases of cerebral palsy, published from 1970 to 2011, which are present in the Embase, Medline, PubMed, Cochrane Library and SciELO databases. Although the results were not statistically comparable, this systematic review demonstrates that hip salvage surgery should be indicated after individual evaluation on each patient, due to the wide spectrum of presentations of cerebral palsy. Therefore, it seems that no surgical technique is superior to any other. Rather, there are different indications.

  17. [Bell's palsy: from viral aetiology to diagnostic reality].

    PubMed

    Tankéré, F; Bernat, I

    2009-09-01

    Peripheral injury of the facial nerve is a frequent disorder. It is a stressful situation for the patient and it is functionally hazardous for the cornea. Facial palsy is due to a lesion involving the facial pontine nucleus or the nerve trunk in its route from the pontocerebellar angle to the parotid. The idiopathic facial paralysis or Bell's palsy (BP) is the most common cause but acute facial palsy can also be due to tumors. A rigorous clinical history and examination must be performed to guide the additional biological, radiological and cochleovestibular investigations in order to reach the diagnosis. The pathophysiology of BP remains unclear, but seems to be due to the reactivation of Herpes simplex virus type 1 within the intrapetrous pathway of facial nerve. The treatment remains controversial but, for most of the authors, consists of early administration of corticosteroids with or without antiviral agents. Ninety percent of the patients recover normal facial function with this treatment. The severe BP resulting in hemifacial spasm must be quickly identified by electrophysiological testing. They need appropriate rehabilitation and for some authors facial nerve surgical decompression in emergency.

  18. Center-of-pressure movements during equine-assisted activities.

    PubMed

    Clayton, Hilary M; Kaiser, Leeann J; de Pue, Bonnie; Kaiser, Lana

    2011-01-01

    We compared anteroposterior and mediolateral range of motion and velocity of the center of pressure (COP) on the horse's back between riders without disabilities and riders with cerebral palsy. An electronic pressure mat was used to track COP movements beneath the saddle in 4 riders without disabilities and 4 riders with cerebral palsy. Comparisons between rider groups were made using the Mann-Whitney test (p < .05). The two rider groups differed significantly in anteroposterior range of COP motion, mediolateral range of COP motion, and mediolateral COP velocity. Anteroposterior COP velocity did not differ between groups. The results suggest that measurements of COP range of motion and velocity are potentially useful for monitoring changes in balance as an indicator of core stability during equine-assisted activities.

  19. [Conservative treatment of idiopathic facial palsy--effects of the administration of high-dose steroids in Bell's palsy].

    PubMed

    Inamura, H; Tojima, H; Saito, O; Maeyama, H; Takeda, K; Aoyagi, M; Koike, Y

    1992-02-01

    The etiology of Bell's palsy is still obscure and its treatment remains controversial. As a conservative treatment for Bell's palsy, Stennert developed a new treatment method for the purpose of improving microcirculation, and reported an extremely high cure rate of 96%, drawing a great deal of attention. However, since the electrophysiological findings and side effects in these patients were not described satisfactorily in his report, this method has not yet come into wide clinical use. In the present study the efficacy of Stennert's method was assessed by electrophysiological examination in patients, and was compared with patients treated by conventional methods. The subjects of this study were 157 patients with Bell's palsy who were treated with a modification of Stennert's method between September 1987 and August 1990. The treatment protocol for the modified Stennert's method was as follows: hydroxyethyl starch 40 with 20% mannitol is given instead of Dextran 40 and prednisolone is stopped depending on the findings of electrical examinations. Fifty-three patients with Bell's palsy treated by the conventional method used in our clinic between November 1983 and August 1987 were used for the control group. The most remarkable difference between these two methods was the initial dose of prednisolone. In the group treated by the modified Stennert's method, 111 patients (70.7%) showed complete recovery within 1 month, and 154 patients presented (98.1%) showed complete recovery within 6 months, 3 cases presented slight sequelae. In the conventional treatment group, on the other hand, only 2 patients (3.8%) recovered within 1 month, and 43 patients (81.0%) recovered within 6 months.(ABSTRACT TRUNCATED AT 250 WORDS)

  20. Tourniquet-Related Iatrogenic Femoral Nerve Palsy after Knee Surgery: Case Report and Review of the Literature

    PubMed Central

    Mingo-Robinet, Juan; Castañeda-Cabrero, Carlos; Alvarez, Vicente; León Alonso-Cortés, José Miguel; Monge-Casares, Eva

    2013-01-01

    Purpose. Tourniquet-induced nerve injuries have been reported in the literature, but even if electromyography abnormalities in knee surgery are frequent, only two cases of permanent femoral nerve palsies have been reported, both after prolonged tourniquet time. We report a case of tourniquet-related permanent femoral nerve palsy after knee surgery. Case Report. We report a case of a 58-year-old woman who underwent surgical treatment of a patella fracture. Tourniquet was inflated to 310 mmHg for 45 minutes. After surgery, patient complained about paralysis of the quadriceps femoris with inability to extend the knee. Electromyography and nerve conduction study showed a severe axonal neuropathy of the left femoral nerve, without clinical remission after several months. Discussion. Even if complications are not rare, safe duration and pressure for tourniquet use remain a controversy. Nevertheless, subtle clinical lesions of the femoral nerve or even subclinical lesions only detectable by nerve conduction and EMG activity are frequent, so persistent neurologic dysfunction, even if rare, may be an underreported complication of tourniquet application. Elderly persons with muscle atrophy and flaccid, loose skin might be in risk for iatrogenic nerve injury secondary to tourniquet. PMID:24371536

  1. The Relationship between Quality of Life and Functioning for Children with Cerebral Palsy

    ERIC Educational Resources Information Center

    Shelly, A.; Davis, E.; Waters, E.; Mackinnon, A.; Reddihough, D.; Boyd, R.; Reid, S.; Graham, H. K.

    2008-01-01

    Given that quality of life (QOL) is commonly confused with functioning, the aim of this study was to examine the association between functioning and QOL domains for children with cerebral palsy (CP). Two hundred and five parents of children aged 4 to 12 years with CP and 53 children aged 9 to 12 years with CP, completed the Cerebral Palsy Quality…

  2. Position as a Cause of Deformity in Children with Cerebral Palsy (1976)

    ERIC Educational Resources Information Center

    Scrutton, David

    2008-01-01

    Deformities in the child with cerebral palsy have been ascribed to muscle imbalance (Sharrard 1961) and increased tone (Pollock 1959) or to the type of cerebral palsy (Bobath and Bobath 1975). As far as we know, the position in which the child is nursed, especially during the first year of life, has not been considered as a cause of deformity. It…

  3. Psychological Problems in Children with Cerebral Palsy: A Cross-Sectional European Study

    ERIC Educational Resources Information Center

    Parkes, Jackie; White-Koning, Melanie; Dickinson, Heather O.; Thyen, Ute; Arnaud, Catherine; Beckung, Eva; Fauconnier, Jerome; Marcelli, Marco; McManus, Vicki; Michelsen, Susan I.; Parkinson, Kathryn; Colver, Allan

    2008-01-01

    Objectives: To describe psychological symptoms in 8-12-year-old children with cerebral palsy; to investigate predictors of these symptoms and their impact on the child and family. Design: A cross-sectional multi-centre survey. Participants: Eight hundred and eighteen children with cerebral palsy, aged 8-12 years, identified from population-based…

  4. Treadmill Training in a Child with Cerebral Palsy: A Case Report

    ERIC Educational Resources Information Center

    Crowley, Julie P.; Arnold, Sandra H.; McEwen, Irene R.; James, Shirley

    2009-01-01

    This case report describes the use of treadmill training without body weight support to improve walking speed in a child with diplegic cerebral palsy. The child was a six-year-old girl with spastic diplegic cerebral palsy. She walked short distances independently using a posterior support walker but was unable to keep up with her peers walking…

  5. Bell's Palsy in Children: Role of the School Nurse in Early Recognition and Referral

    ERIC Educational Resources Information Center

    Gordon, Shirley C.

    2008-01-01

    Bell's palsy is the most common condition affecting facial nerves. It is an acute, rapidly progressing, idiopathic, unilateral facial paralysis that is generally self-limiting and non-life threatening that occurs in all age groups (Okuwobi, Omole, & Griffith, 2003). The school nurse may be the first person to assess facial palsy and muscle…

  6. The Cerebral Palsy Quality of Life for Children (CP QOL-Child): Evidence of Construct Validity

    ERIC Educational Resources Information Center

    Chen, Kuan-Lin; Wang, Hui-Yi; Tseng, Mei-Hui; Shieh, Jeng-Yi; Lu, Lu; Yao, Kai-Ping Grace; Huang, Chien-Yu

    2013-01-01

    The Cerebral Palsy Quality of Life for Children (CP QOL-Child) is the first health condition-specific questionnaire designed for measuring QOL in children with cerebral palsy (CP). However, its construct validity has not yet been confirmed by confirmatory factor analysis (CFA). Hence, this study assessed the construct validity of the caregiver…

  7. Similarities between familial and sporadic autopsy-proven progressive supranuclear palsy.

    PubMed

    Fujioka, Shinsuke; Algom, Avi A; Murray, Melissa E; Strongosky, Audrey; Soto-Ortolaza, Alexandra I; Rademakers, Rosa; Ross, Owen A; Wszolek, Zbigniew K; Dickson, Dennis W

    2013-05-28

    Progressive supranuclear palsy (PSP) is a relatively common neurodegenerative tauopathy clinically characterized by parkinsonism, axial rigidity, and supranuclear gaze palsy. Pathologic findings of PSP are neuronal loss, gliosis, and neurofibrillary tangles in basal ganglia, diencephalon, and brainstem; there is increasing recognition of clinicopathologic variants of PSP.(1.)

  8. Communicating about Loss: Experiences of Older Australian Adults with Cerebral Palsy and Complex Communication Needs

    ERIC Educational Resources Information Center

    Dark, Leigha; Balandin, Susan; Clemson, Lindy

    2011-01-01

    Loss and grief is a universal human experience, yet little is known about how older adults with a lifelong disability, such as cerebral palsy, and complex communication needs (CCN) experience loss and manage the grieving process. In-depth interviews were conducted with 20 Australian participants with cerebral palsy and CCN to determine the types…

  9. "I Do Lots of Things": Children with Cerebral Palsy's Competence for Everyday Activities

    ERIC Educational Resources Information Center

    Kramer, Jessica M.; Hammel, Joy

    2011-01-01

    This study explored how children with cerebral palsy describe competent performance in everyday activities and sought to better understand the processes by which the children developed competence. Five children with cerebral palsy aged six to 17 years participated in a three-step procedure that included two observations, one semi-structured…

  10. Volumetric Magnetic Resonance Imaging Study of Brain and Cerebellum in Children with Cerebral Palsy.

    PubMed

    Kułak, Piotr; Maciorkowska, Elżbieta; Gościk, Elżbieta

    2016-01-01

    Introduction. Quantitative magnetic resonance imaging (MRI) studies are rarely used in the diagnosis of patients with cerebral palsy. The aim of present study was to assess the relationships between the volumetric MRI and clinical findings in children with cerebral palsy compared to control subjects. Materials and Methods. Eighty-two children with cerebral palsy and 90 age- and sex-matched healthy controls were collected. Results. The dominant changes identified on MRI scans in children with cerebral palsy were periventricular leukomalacia (42%) and posthemorrhagic hydrocephalus (21%). The total brain and cerebellum volumes in children with cerebral palsy were significantly reduced in comparison to controls. Significant grey matter volume reduction was found in the total brain in children with cerebral palsy compared with the control subjects. Positive correlations between the age of the children of both groups and the grey matter volumes in the total brain were found. Negative relationship between width of third ventricle and speech development was found in the patients. Positive correlations were noted between the ventricles enlargement and motor dysfunction and mental retardation in children with cerebral palsy. Conclusions. By using the voxel-based morphometry, the total brain, cerebellum, and grey matter volumes were significantly reduced in children with cerebral palsy.

  11. Understanding Mealtime Changes for Adults with Cerebral Palsy and the Implications for Support Services

    ERIC Educational Resources Information Center

    Balandin, Susan; Hemsley, Bronwyn; Hanley, Leah; Sheppard, Justine Joan

    2009-01-01

    Background: Changes in the swallowing capabilities of adults with cerebral palsy as they age may impact on their health, safety, and well-being. Method: Thirty-two adults with cerebral palsy aged between 30 and 69 years participated in in-depth interviews about their experiences of changes in their swallowing and related management of their…

  12. Arithmetic Difficulties in Children with Cerebral Palsy Are Related to Executive Function and Working Memory

    ERIC Educational Resources Information Center

    Jenks, Kathleen M.; de Moor, Jan; van Lieshout, Ernest C. D. M.

    2009-01-01

    Background: Although it is believed that children with cerebral palsy are at high risk for learning difficulties and arithmetic difficulties in particular, few studies have investigated this issue. Methods: Arithmetic ability was longitudinally assessed in children with cerebral palsy in special (n = 41) and mainstream education (n = 16) and…

  13. Intensive Dysarthria Therapy for Older Children with Cerebral Palsy: Findings from Six Cases

    ERIC Educational Resources Information Center

    Pennington, Lindsay; Smallman, Claire; Farrier, Faith

    2006-01-01

    Children with cerebral palsy often have speech, language and communication difficulties that affect their access to social and educational activities. Speech and language therapy to improve the intelligibility of the speech of children with cerebral palsy has long been advocated, but there is a dearth of research investigating therapy…

  14. Theory of Mind and Irony Comprehension in Children with Cerebral Palsy

    ERIC Educational Resources Information Center

    Caillies, Stephanie; Hody, Anais; Calmus, Arnaud

    2012-01-01

    The main goal of the present study was to characterise the pragmatic abilities of French children with cerebral palsy through their understanding of irony and other people's mental states. We predicted that children with cerebral palsy would have difficulty understanding false-belief and ironic remarks, due to the executive dysfunction that…

  15. Electropalatography in the Description and Treatment of Speech Disorders in Five Children with Cerebral Palsy

    ERIC Educational Resources Information Center

    Nordberg, Ann; Carlsson, Goran; Lohmander, Anette

    2011-01-01

    Some children with cerebral palsy have articulation disorders that are resistant to conventional speech therapy. The aim of this study was to investigate whether the visual feedback method of electropalatography (EPG) could be an effective tool for treating five children (mean age of 9.4 years) with dysarthria and cerebral palsy and to explore…

  16. European study of frequency of participation of adolescents with and without cerebral palsy.

    PubMed

    Michelsen, Susan I; Flachs, Esben M; Damsgaard, Mogens T; Parkes, Jacqueline; Parkinson, Kathryn; Rapp, Marion; Arnaud, Catherine; Nystrand, Malin; Colver, Allan; Fauconnier, Jerome; Dickinson, Heather O; Marcelli, Marco; Uldall, Peter

    2014-05-01

    Children with cerebral palsy participate less in everyday activities than children in the general populations. During adolescence, rapid physical and psychological changes occur which may be more difficult for adolescents with impairments. Within the European SPARCLE project we measured frequency of participation of adolescents with cerebral palsy by administering the Questionnaire of Young People's Participation to 667 adolescents with cerebral palsy or their parents from nine European regions and to 4666 adolescents from the corresponding general populations. Domains and single items were analysed using respectively linear and logistic regression. Adolescents with cerebral palsy spent less time with friends and had less autonomy in their daily life than adolescents in the general populations. Adolescents with cerebral palsy participated much less in sport but played electronic games at least as often as adolescents in the general populations. Severity of motor and intellectual impairment had a significant impact on frequency of participation, the more severely impaired being more disadvantaged. Adolescents with an only slight impairment participated in some domains as often as adolescents in the general populations. Regional variation existed. For example adolescents with cerebral palsy in central Italy were most disadvantaged according to decisional autonomy, while adolescents with cerebral palsy in east Denmark and northern England played sports as often as their general populations. Participation is an important health outcome. Personal and environmental predictors of participation of adolescents with cerebral palsy need to be identified in order to design interventions directed to such predictors; and in order to inform the content of services.

  17. European study of frequency of participation of adolescents with and without cerebral palsy

    PubMed Central

    Michelsen, Susan I.; Flachs, Esben M.; Damsgaard, Mogens T.; Parkes, Jacqueline; Parkinson, Kathryn; Rapp, Marion; Arnaud, Catherine; Nystrand, Malin; Colver, Allan; Fauconnier, Jerome; Dickinson, Heather O.; Marcelli, Marco; Uldall, Peter

    2014-01-01

    Children with cerebral palsy participate less in everyday activities than children in the general populations. During adolescence, rapid physical and psychological changes occur which may be more difficult for adolescents with impairments. Within the European SPARCLE project we measured frequency of participation of adolescents with cerebral palsy by administering the Questionnaire of Young People's Participation to 667 adolescents with cerebral palsy or their parents from nine European regions and to 4666 adolescents from the corresponding general populations. Domains and single items were analysed using respectively linear and logistic regression. Adolescents with cerebral palsy spent less time with friends and had less autonomy in their daily life than adolescents in the general populations. Adolescents with cerebral palsy participated much less in sport but played electronic games at least as often as adolescents in the general populations. Severity of motor and intellectual impairment had a significant impact on frequency of participation, the more severely impaired being more disadvantaged. Adolescents with an only slight impairment participated in some domains as often as adolescents in the general populations. Regional variation existed. For example adolescents with cerebral palsy in central Italy were most disadvantaged according to decisional autonomy, while adolescents with cerebral palsy in east Denmark and northern England played sports as often as their general populations. Participation is an important health outcome. Personal and environmental predictors of participation of adolescents with cerebral palsy need to be identified in order to design interventions directed to such predictors; and in order to inform the content of services. PMID:24412031

  18. Effect of Translucency on Transparency and Symbol Learning for Children with and without Cerebral Palsy

    ERIC Educational Resources Information Center

    Huang, Chih-Hsiung; Chen, Ming-Chung

    2011-01-01

    Based on the concept of iconicity, the iconicity hypothesis was emphasized for decades. The aims of this study were to explore the effect of translucency on transparency and symbol learning for children with and without cerebral palsy. Twenty children with cerebral palsy and forty typical peers participated in the study. Ten symbols with high…

  19. Volumetric Magnetic Resonance Imaging Study of Brain and Cerebellum in Children with Cerebral Palsy

    PubMed Central

    Maciorkowska, Elżbieta; Gościk, Elżbieta

    2016-01-01

    Introduction. Quantitative magnetic resonance imaging (MRI) studies are rarely used in the diagnosis of patients with cerebral palsy. The aim of present study was to assess the relationships between the volumetric MRI and clinical findings in children with cerebral palsy compared to control subjects. Materials and Methods. Eighty-two children with cerebral palsy and 90 age- and sex-matched healthy controls were collected. Results. The dominant changes identified on MRI scans in children with cerebral palsy were periventricular leukomalacia (42%) and posthemorrhagic hydrocephalus (21%). The total brain and cerebellum volumes in children with cerebral palsy were significantly reduced in comparison to controls. Significant grey matter volume reduction was found in the total brain in children with cerebral palsy compared with the control subjects. Positive correlations between the age of the children of both groups and the grey matter volumes in the total brain were found. Negative relationship between width of third ventricle and speech development was found in the patients. Positive correlations were noted between the ventricles enlargement and motor dysfunction and mental retardation in children with cerebral palsy. Conclusions. By using the voxel-based morphometry, the total brain, cerebellum, and grey matter volumes were significantly reduced in children with cerebral palsy. PMID:27579318

  20. [Use of acyclovir in acute peripheral idiopathic facial paralysis (Bell's palsy)].

    PubMed

    De Diego Sastre, J I; Prim Espada, M P

    1999-03-01

    Recently, acyclovir use has been proposed for the treatment of Bell's palsy in view of the hypothetical viral origin of the disorder. Recent studies suggest that the maximum effect is achieved by combining acyclovir with prednisone. Nevertheless, acyclovir alone appears to be useful in the treatment of some patients (hypertensive subjects). Protocols are defined for the medical treatment of Bell's palsy.

  1. Effects of Frequency of Feedback on the Learning of Motor Skill in Individuals with Cerebral Palsy

    ERIC Educational Resources Information Center

    Hemayattalab, Rasool; Rostami, Leila Rashidi

    2010-01-01

    The purpose of this study was to investigate the effect of frequency of knowledge of results (KR) on the learning of dart in individuals with cerebral palsy type I. Twenty-four individuals with cerebral palsy (CP) between the ages of 5 and 17 were chosen for this study. They were put into 3 homogenous groups according to their records after 20…

  2. Primary Lateral Sclerosis as Progressive Supranuclear Palsy: Diagnosis by Diffusion Tensor Imaging

    PubMed Central

    Coon, Elizabeth A.; Whitwell, Jennifer L.; Jack, Clifford R.; Josephs, Keith A.

    2012-01-01

    Background Evaluating the integrity of white matter tracts with diffusion tensor imaging may differentiate primary lateral sclerosis from progressive supranuclear palsy. Methods Thirty-three prospectively recruited subjects had standardized evaluations and diffusion tensor imaging: 3 with primary lateral sclerosis who presented with features suggestive of progressive supranuclear palsy, 10 with probable or definite progressive supranuclear palsy, and 20 matched controls. We compared fractional anisotropy of the corticospinal tract, superior cerebellar peduncle and body of the corpus callosum between groups. Results Both the primary lateral sclerosis and progressive supranuclear palsy subjects showed reduced fractional anisotropy in superior cerebellar peduncles and body of the corpus callosum compared to controls, but only primary lateral sclerosis subjects showed reductions in the corticospinal tracts. A ratio of corticospinal tract/superior cerebellar peduncle best distinguished the disorders (p<0.02). Conclusions The corticospinal tract/superior cerebellar peduncle ratio is a marker to differentiate primary lateral sclerosis from progressive supranuclear palsy. PMID:22517038

  3. Comparison of corticotrophin and prednisolone in treatment of idiopathic facial paralysis (Bell's palsy).

    PubMed

    Taverner, D; Cohen, S B; Hutchinson, B C

    1971-10-02

    In a controlled trial of the effects of intramuscular corticotrophin and oral prednisolone in the treatment of acute Bell's palsy 186 successive patients with idiopathic facial palsy were grouped for age and duration of palsy. They were then allocated at random to either corticotrophin or prednisolone therapy in pairs. The results were:(1) 94 received corticotrophin and 32 developed some degree of denervation and 92 received prednisolone and 13 developed some degree of denervation (P <0.005); (2) six of the corticotrophin group became severely denervated (less than 50% recovery) compared with none of the prednisolone group (P <0.02); (3) the best results were obtained in the younger patients (less than 45 years old) treated on the first or second day of palsy; and (4) side effects were minimal.It is concluded that oral prednisolone is the treatment of choice for idiopathic facial (Bell's) palsy.

  4. Facial palsy after inferior alveolar nerve block: case report and review of the literature.

    PubMed

    Chevalier, V; Arbab-Chirani, R; Tea, S H; Roux, M

    2010-11-01

    Bell's palsy is an idiopathic and acute, peripheral nerve palsy resulting in inability to control facial muscles on the affected side because of the involvement of the facial nerve. This study describes a case of Bell's palsy that developed after dental anaesthesia. A 34-year-old pregnant woman at 35 weeks of amenorrhea, with no history of systemic disease, was referred by her dentist for treatment of a mandibular left molar in pulpitis. An inferior alveolar nerve block was made prior to the access cavity preparation. 2h later, the patient felt the onset of a complete paralysis of the left-sided facial muscles. The medical history, the physical examination and the complementary exams led neurologists to the diagnosis of Bell's palsy. The treatment and results of the 1-year follow-up are presented and discussed. Bell's palsy is a rare complication of maxillofacial surgery or dental procedures, the mechanisms of which remain uncertain.

  5. Facial nerve palsy following intra-oral surgery performed with local anaesthesia.

    PubMed

    Cousin, G C

    2000-10-01

    The precise cause of Bell's palsy remains unclear. A variety of mechanisms have been linked to this palsy, including viral re-activation, demyelination, oedema, vasopasm and trauma. A link with dental treatment has been suggested previously, and a series of seven cases of facial nerve palsy following intra-oral surgery are reported. All of the patients had local anaesthetic solution containing adrenaline as the vasoconstrictor administered. There may be under-reporting of this association, as patients with facial nerve palsy are treated by specialists from several disciplines, not only maxillofacial surgeons. An association with local anaesthesia administered to permit dental treatment would have important medicolegal consequences, and perhaps go some way to explaining the pathophysiology of Bell's palsy.

  6. Sudden peroneal nerve palsy in an osteoarthritic knee: a case report

    PubMed Central

    Kumar, Vijay; Nayak, Mayur; Ansari, Tahir; Malhotra, Rajesh

    2017-01-01

    Peroneal nerve injuries have been reported in association with various causes around the knee such as traumatic varus injury, traumatic dislocation, upper tibial osteotomy, knee arthroscopy and total knee arthroplasty. Two instances of varus arthritic knee associated with a peroneal nerve palsy have been reported so far. One presented with gradual onset peroneal nerve palsy that recovered with time and the other with sudden onset peroneal nerve palsy that did not recover. We describe the case of a 63-year-old man who presented with a symptomatic varus arthritic knee and sudden onset peroneal nerve palsy with synovial cysts over the lateral aspect of the knee. We performed a total knee arthroplasty with decompression of the synovial cyst in the same patient. Three months following the surgery the patient was walking pain free with a completely recovered nerve palsy. PMID:28287389

  7. The Comparison of Malocclusion Prevalence Between Children with Cerebral Palsy and Healthy Children.

    PubMed

    Bakarcić, Danko; Lajnert, Vlatka; Maricić, Barbara Mady; Jokić, Nataga Ivancić; Vrancić, Zlatka Roksandić; Grzić, Renata; Prpić, Igor

    2015-09-01

    This study sets out to examine the prevalence of malocclusion and habits in a group of children with cerebral palsy and to compare it with a control group of healthy children. The presence of an anterior open bite was statistically significantly higher in the cerebral palsied group. The presence of aposterior crossbite was not significantly different between the examined groups, as was the case for a lingual crossbite. The occurrence of visceral swallowing, incompetent lips and oral respiration was significantly higher in the cerebral palsied group. The current study cannot satisfactorily sustain the issue of a higher prevalence of posterior and lingual crossbite in children with cerebral palsy because of no significant differences between groups, but it certainly can for an anterior openbite. The present study also adds to the evidence that there is an increased prevalence of oral breathing, visceral swallowing and lip incompetence in children with cerebral palsy.

  8. The asymmetric facial skin perfusion distribution of Bell's palsy discovered by laser speckle imaging technology.

    PubMed

    Cui, Han; Chen, Yi; Zhong, Weizheng; Yu, Haibo; Li, Zhifeng; He, Yuhai; Yu, Wenlong; Jin, Lei

    2016-01-01

    Bell's palsy is a kind of peripheral neural disease that cause abrupt onset of unilateral facial weakness. In the pathologic study, it was evidenced that ischemia of facial nerve at the affected side of face existed in Bell's palsy patients. Since the direction of facial nerve blood flow is primarily proximal to distal, facial skin microcirculation would also be affected after the onset of Bell's palsy. Therefore, monitoring the full area of facial skin microcirculation would help to identify the condition of Bell's palsy patients. In this study, a non-invasive, real time and full field imaging technology - laser speckle imaging (LSI) technology was applied for measuring facial skin blood perfusion distribution of Bell's palsy patients. 85 participants with different stage of Bell's palsy were included. Results showed that Bell's palsy patients' facial skin perfusion of affected side was lower than that of the normal side at the region of eyelid, and that the asymmetric distribution of the facial skin perfusion between two sides of eyelid is positively related to the stage of the disease (P <  0.001). During the recovery, the perfusion of affected side of eyelid was increasing to nearly the same with the normal side. This study was a novel application of LSI in evaluating the facial skin perfusion of Bell's palsy patients, and we discovered that the facial skin blood perfusion could reflect the stage of Bell's palsy, which suggested that microcirculation should be investigated in patients with this neurological deficit. It was also suggested LSI as potential diagnostic tool for Bell's palsy.

  9. Brain iron deposition fingerprints in Parkinson's disease and progressive supranuclear palsy.

    PubMed

    Boelmans, Kai; Holst, Brigitte; Hackius, Marc; Finsterbusch, Jürgen; Gerloff, Christian; Fiehler, Jens; Münchau, Alexander

    2012-03-01

    It can be difficult to clinically distinguish between classical Parkinson's disease (PD) and progressive supranuclear palsy. Previously, there have been no biomarkers that reliably allow this distinction to be made. We report that an abnormal brain iron accumulation is a marker for ongoing neurodegeneration in both conditions, but the conditions differ with respect to the anatomical distribution of these accumulations. We analyzed quantitative T2' maps as markers of regional brain iron content from PD and progressive supranuclear palsy patients and compared them to age-matched control subjects. T2-weighted and T2*-weighted images were acquired in 30 PD patients, 12 progressive supranuclear palsy patients, and 24 control subjects at 1.5 Tesla. Mean T2' values were determined in regions-of-interest in the basal ganglia, thalamus, and white matter within each hemisphere. The main findings were shortened T2' values in the caudate nucleus, globus pallidus, and putamen in progressive supranuclear palsy compared to PD patients and controls. A stepwise linear discriminant analysis allowed progressive supranuclear palsy patients to be distinguished from PD patients and the healthy controls. All progressive supranuclear palsy patients were correctly classified. No progressive supranuclear palsy patient was classified as a healthy control, no healthy controls were incorrectly classified as having progressive supranuclear palsy, and only 6.7% of the PD patients were incorrectly classified as progressive supranuclear palsy. Regional decreases of T2' relaxation times in parts of the basal ganglia reflecting increased brain iron load in these areas are characteristic for progressive supranuclear palsy but not PD patients.

  10. Magnetic resonance imaging lesion pattern in Guadeloupean parkinsonism is distinct from progressive supranuclear palsy.

    PubMed

    Lehéricy, Stéphane; Hartmann, Andreas; Lannuzel, Annie; Galanaud, Damien; Delmaire, Christine; Bienaimée, Marie-Josée; Jodoin, Nicolas; Roze, Emmanuel; Gaymard, Bertrand; Vidailhet, Marie

    2010-08-01

    In the Caribbean island of Guadeloupe, patients with atypical parkinsonism develop a progressive supranuclear palsy-like syndrome, named Guadeloupean parkinsonism. Unlike the classical forms of progressive supranuclear palsy, they develop hallucinations and myoclonus. As lesions associated with Guadeloupean parkinsonism are poorly characterized, it is not known to what extent they differ from progressive supranuclear palsy. The aim of the present study was to determine the structural and metabolic profiles of Guadeloupean parkinsonism compared with progressive supranuclear palsy and controls using combined structural and diffusion magnetic resonance imaging and magnetic resonance spectroscopy. We included 9 patients with Guadeloupean parkinsonism, 10 with progressive supranuclear palsy and 9 age-matched controls. Magnetic resonance imaging examination was performed at 1.5 T and included 3D T(1)-weighted and fluid-attenuated inversion recovery images, diffusion tensor imaging and single voxel magnetic resonance spectroscopy in the lenticular nucleus. Images were analysed using voxel-based morphometry, voxel-based diffusion tensor imaging and brainstem region of interest measurements. In patients with Guadeloupean parkinsonism, structural and diffusion changes predominated in the temporal and occipital lobes, the limbic areas (medial temporal, orbitofrontal and cingulate cortices) and the cerebellum. In contrast to patients with progressive supranuclear palsy, structural changes predominated in the midbrain and the basal ganglia and diffusion abnormalities predominated in the frontocentral white matter, the basal ganglia and the brainstem. Compared with controls, the N-acetylaspartate to creatinine ratio was decreased in patients with progressive supranuclear palsy and to a lesser extent in patients with Guadeloupean parkinsonism. The pattern of structural and diffusion abnormalities differed between progressive supranuclear palsy and Guadeloupean parkinsonism

  11. The Activation of RAGE and NF-KB in Nerve Biopsies of Patients with Axonal and Vasculitic Neuropathy

    PubMed Central

    BEKİRCAN-KURT, Can Ebru; TAN, Ersin; ERDEM ÖZDAMAR, Sevim

    2015-01-01

    Introduction The receptor for advanced glycation end products (RAGE) is a pattern recognition receptor expressed in tissues and cells, which plays a role in immunity. The activation of RAGE results in the translocation of nuclear factor kappa B (NF-κB) to the nucleus for expression of proinflammatory molecules. The role of the RAGE pathway in the pathogenesis of diabetic complications is well determined. We aimed to investigate the role of the RAGE pathway in axonal and vasculitic neuropathy. Methods We immunoreacted nerve biopsy samples from 17 axonal neuropathy (AN), 11 vasculitic neuropathy (VN) and 12 hereditary neuropathy (as a control group) with liability to pressure palsy (HNPP) patients with antibodies to NF-κB and RAGE. Subsequently, we performed double staining with the antibodies to NF-κB or RAGE and T cells, macrophages and Schwann cells. Results RAGE and NF-κB immunoreactivities were higher in the perivascular cuff and in endoneurial cells in VN than in AN and HNPP. Although there is no significant difference, nerve biopsies with AN showed higher NFκB and RAGE immunoreactivities than HNPP. The colocalization study showed that most of the NFκB- and RAGE-positive cells were CD8 (+) T cells in VN. In AN, all NFκB- and RAGE-positive cells were macrophages, whereas all NFκB- and RAGE-positive cells were Schwann cells in HNPP. Conclusion The activation of the RAGE pathway predominant in CD8 (+) T cells underscores its role in VN. In AN patients, the immunoreactivity to NFκB and RAGE in macrophages may support their role in axonal degeneration without inflammatory milieu.

  12. Differences of respiratory function according to level of the gross motor function classification system in children with cerebral palsy.

    PubMed

    Kwon, Yong Hyun; Lee, Hye Young

    2014-03-01

    [Purpose] The current study was designed to investigate the difference in lung capacity and muscle strengthening related to respiration depending on the level of the Gross Motor Function Classification System (GMFCS) in children with cerebral palsy (CP) through tests of respiratory function and respiratory pressure. [Subjects and Methods] A total of 49 children with CP who were classified as below level III of the GMFCS were recruited for this study. They were divided into three groups (i.e., GMFCS level I, GMFCS level II, and GMFCS level III). All children took the pulmonary function test (PFT) and underwent respiratory pressure testing for assessment of respiratory function in terms of lung capacity and respiratory muscle strength. [Results] The GMFCS level III group showed significantly lower scores for all tests of the PFT (i.e., forced vital capacity (FVC), forced expiratory volume at one second (FEV1), and slow vital capacity (SVC)) and testing for respiratory pressures (maximal inspiratory pressure (MIP) and maximal expiratory pressure (MEP)) compared with the other two groups. The results of post hoc analysis indicated that the GMFCS level III group differed significantly from the other two groups in terms of FVC, FEV1, MIP, and MEP. In addition, a significant difference in SVC was observed between GMFCS level II and III. [Conclusion] Children with CP who had relatively low motor function showed poor pulmonary capacity and respiratory muscle weakness. Therefore, clinical manifestations regarding lung capacity and respiratory muscle will be required in children with CP who demonstrate poor physical activity.

  13. Anterior Knee Pain in Patients with Cerebral Palsy

    PubMed Central

    Choi, Young; Lee, Sang Hyeong; Chung, Chin Youb; Park, Moon Seok; Lee, Kyoung Min; Sung, Ki Hyuk; Won, Sung Hun; Lee, In Hyeok; Choi, In Ho; Cho, Tae-Joon; Yoo, Won Joon

    2014-01-01

    Background The aim of this study was to identify the risk factors for anterior knee pain in patients with cerebral palsy. Methods This prospective study investigated the risk factors for anterior knee pain in 127 ambulatory patients with spastic cerebral palsy in terms of walking pain, resting pain, and provocative pain. Demographic data analysis and physical examination for measuring the knee flexion contracture and unilateral and bilateral popliteal angles were performed. Patellar height was measured on radiographs, and patella alta was identified. The risk factors for anterior knee pain were analyzed using multivariate analysis with a generalized estimating equation. Results Seventy-seven patients were found to have patella alta based on the radiographic measurements (60.6%). Overall, sixteen patients (12.6%) had either unilateral or bilateral anterior knee pain. Of these, 6 patients showed a visual analogue scale (VAS) ≤ 3, 9 patients showed 3 < VAS ≤ 7, and one patient showed a VAS > 7. Age was found to be a significant risk factor for walking pain and resting pain with odds ratios (ORs) of 1.08 (95% confidence interval [CI], 1.02 to 1.14) and 1.09 (95% CI, 1.03 to 1.15), respectively. In the multivariate analysis, knee flexion contracture was a significant protective factor with an OR of 0.92 (95% CI, 0.85 to 0.98). Conclusions Approximately 12.6% of ambulatory patients with spastic cerebral palsy were found to have anterior knee pain in our hospital-based cohort study. Age was found to be a significant risk factor for anterior knee pain while walking and resting. PMID:25436067

  14. Saccadic Palsy following Cardiac Surgery: Possible Role of Perineuronal Nets

    PubMed Central

    Roeber, Sigrun; Härtig, Wolfgang; Nair, Govind; Reich, Daniel S.

    2015-01-01

    Objective Perineuronal nets (PN) form a specialized extracellular matrix around certain highly active neurons within the central nervous system and may help to stabilize synaptic contacts, promote local ion homeostasis, or play a protective role. Within the ocular motor system, excitatory burst neurons and omnipause neurons are highly active cells that generate rapid eye movements – saccades; both groups of neurons contain the calcium-binding protein parvalbumin and are ensheathed by PN. Experimental lesions of excitatory burst neurons and omnipause neurons cause slowing or complete loss of saccades. Selective palsy of saccades in humans is reported following cardiac surgery, but such cases have shown normal brainstem neuroimaging, with only one clinicopathological study that demonstrated paramedian pontine infarction. Our objective was to test the hypothesis that lesions of PN surrounding these brainstem saccade-related neurons may cause saccadic palsy. Methods Together with four controls we studied the brain of a patient who had developed a permanent selective saccadic palsy following cardiac surgery and died several years later. Sections of formalin-fixed paraffin-embedded brainstem blocks were applied to double-immunoperoxidase staining of parvalbumin and three different components of PN. Triple immunofluorescence labeling for all PN components served as internal controls. Combined immunostaining of parvalbumin and synaptophysin revealed the presence of synapses. Results Excitatory burst neurons and omnipause neurons were preserved and still received synaptic input, but their surrounding PN showed severe loss or fragmentation. Interpretation Our findings support current models and experimental studies of the brainstem saccade-generating neurons and indicate that damage to PN may permanently impair the function of these neurons that the PN ensheathe. How a postulated hypoxic mechanism could selectively damage the PN remains unclear. We propose that the well

  15. Adults with spastic cerebral palsy have lower bone mass than those with dyskinetic cerebral palsy.

    PubMed

    Kim, Wonjin; Lee, Su Jin; Yoon, Young-Kwon; Shin, Yoon-Kyum; Cho, Sung-Rae; Rhee, Yumie

    2015-02-01

    Adults with cerebral palsy (CP) are known to have low bone mass with an increased risk of fragility fracture. CP is classified into two major types: spastic (pyramidal) and dyskinetic (extrapyramidal). Spastic CP is the most common and is characterized by muscle hypertonicity and impaired neuromuscular control. By contrast, dyskinetic CP is characterized by mixed muscle tone with involuntary movements. The aim of this study was to elucidate the relationship between bone metabolism and subtype of CP. Fifty-eight adults with CP (aged 18 to 49years, mean age 33.2years; 32 men, 26 women) were included in this cross-sectional analysis. Lumbar spine and femoral bone mineral density (BMD) Z-scores were measured. Bone markers, including C-telopeptide of type I collagen (CTx) and osteocalcin (OCN), were also analyzed. Among these participants, 30 had spastic CP and 28 had dyskinetic CP. The Z-scores of lumbar spine BMD did not differ between the two types. However, the Z-scores of femur trochanteric BMD were significantly lower in participants with spastic CP than in those with dyskinetic CP (-1.6±1.2 vs. -0.9±1.1, p<0.05). Seventy-four percent of participants with either type of CP had abnormally elevated CTx, while about 90% of participants showed normal OCN levels. When participants were subclassified into nonambulatory and ambulatory groups, the nonambulatory group had significantly lower BMD in the femur, including the trochanteric and total regions, whether they were spastic or dyskinetic (p<0.05). Because the type of CP affects bone mass, nonambulatory spastic CP participants showed the lowest total hip region BMD among the four groups. These results reveal that reduced weight bearing and immobility related to CP cause a negative bone balance because of increased bone resorption, which leads to a lower bone mass. In addition, hypertonicity of the affected limbs in participants with spastic CP resulted in lower bone mass than in those with dyskinetic CP. Type of CP

  16. Surgical treatment of a long thoracic nerve palsy.

    PubMed

    Novak, Christine B; Mackinnon, Susan E

    2002-05-01

    A 17-year-old patient presented with a long thoracic nerve palsy following an idiopathic onset of weakness to the serratus anterior muscle. With no evidence of recovery 3.5 months following onset of serratus anterior weakness, the patient underwent a thoracodorsal to long thoracic nerve transfer to reinnervate the serratus anterior muscle. Follow-up examination 6.5 years following the nerve transfer revealed no scapular winging, full range of motion of the shoulder and no reported functional shoulder restriction. We conclude that a thoracodorsal to long thoracic nerve transfer results in good functional recovery of the serratus anterior muscle.

  17. [Facial palsy and leontiasis ossea of the pyramid (author's transl)].

    PubMed

    Aesch, B

    1977-01-01

    The author presents a boy which has repeated facial palsies since his second year of life. The clinical examination showed: conduction deafness, radiological sclerosis of the bones of the basis of the skull, normal values of chemical blood analysis. Both facial nerves are operated in the mastoid and middle ear portions. The histological examination of the mastoid bone reveals a leontiasis ossea. The histological structure of the bone are described in detail and the differential diagnosis with other bone diseases of the cranial bones is discussed.

  18. Single-level selective dorsal rhizotomy for spastic cerebral palsy

    PubMed Central

    Graham, David; Cawker, Stephanie; Paget, Simon; Wimalasundera, Neil

    2016-01-01

    The management of cerebral palsy (CP) is complex and requires a multidisciplinary approach. Selective dorsal rhizotomy (SDR) is a neurosurgical technique that aims to reduce spasticity in the lower limbs. A minimally invasive approach to SDR involves a single level laminectomy at the conus and utilises intraoperative electromyography (EMG). When combined with physiotherapy, SDR is effective in selected children and has minimal complications. This review discusses the epidemiology of CP and the management using SDR within an integrated multidisciplinary centre. Particular attention is given to the single-level laminectomy technique of SDR and its rationale, and the patient workup, recovery and outcomes of SDR. PMID:27757432

  19. Corneal edema induced by cold in trigeminal nerve palsy

    SciTech Connect

    Thorgaard, G.L.; Holland, E.J.; Krachmer, J.H.

    1987-05-15

    We examined a 34-year-old man who complained of decreased visual acuity in the right eye when exposed to cold environmental temperatures. Although examination at room temperature was unremarkable, he developed prominent unilateral corneal edema of the right eye when placed in a cold room at 4 C. Corneal thickness increased from 525 to 789 microns in the affected eye. Further examination disclosed a right-sided trigeminal nerve palsy. He was eventually found to have a 3 X 2-cm tentorial ridge meningioma on the right.

  20. Single-level selective dorsal rhizotomy for spastic cerebral palsy.

    PubMed

    Graham, David; Aquilina, Kristian; Cawker, Stephanie; Paget, Simon; Wimalasundera, Neil

    2016-09-01

    The management of cerebral palsy (CP) is complex and requires a multidisciplinary approach. Selective dorsal rhizotomy (SDR) is a neurosurgical technique that aims to reduce spasticity in the lower limbs. A minimally invasive approach to SDR involves a single level laminectomy at the conus and utilises intraoperative electromyography (EMG). When combined with physiotherapy, SDR is effective in selected children and has minimal complications. This review discusses the epidemiology of CP and the management using SDR within an integrated multidisciplinary centre. Particular attention is given to the single-level laminectomy technique of SDR and its rationale, and the patient workup, recovery and outcomes of SDR.

  1. Femoral torsion and neck-shaft angles in cerebral palsy.

    PubMed

    Laplaza, F J; Root, L; Tassanawipas, A; Glasser, D B

    1993-01-01

    Excessive femoral and coxa valga have been reported to be major contributors leading to hip dislocation in patients with cerebral palsy (CP). Femoral torsion angle (FT) and neck-shaft angle (NSA) were measured by the radiographic technique described by Rippstein and Müller in 157 patients with CP (289 hips). Factors associated with the degree of FT and NSA were evaluated. The researchers explored the correlation between the two angles and hip pathology. A large database of measurements was constructed. Our findings suggest that age and ambulatory status are the main factors correlated with FT and NSA.

  2. Recent advances in the neuroimaging and neuropsychology of cerebral palsy.

    PubMed

    Gosling, A Sophia

    2017-01-01

    This article reviews the recent advances in understanding of cerebral palsy (CP) and outlines how these advances could inform pediatric neuropsychological rehabilitation. Three main areas are discussed: the improved delineation of differing presentations resulting from more advanced imaging techniques with emerging links to function; a brief review of research examining neuropsychological functioning of children with CP and their quality of life and participation; and lastly, some of the evidence for efficacious interventions and the extent to which these interventions are derived from neuropsychological theory and practice. Advances and gaps in knowledge in addition to suggestions of areas for future focus in research and practice are discussed throughout the article.

  3. Reanimation surgery in patients with acquired bilateral facial palsy.

    PubMed

    Butler, D P; Johal, K S; Harrison, D H; Grobbelaar, A O

    2017-04-01

    Acquired bilateral facial palsy is rare and causes difficulty with speech and eating, but dynamic reanimation of the face can reduce the effect of these problems. Of 712 patients who had these procedures during our study period, two had an acquired bilateral facial paralysis. In both, reanimation was completed in a single operation using a free-functional transfer of the latissimus dorsi muscle that was coapted to the masseteric branch of the trigeminal nerve. Both patients achieved excellent non-spontaneous excursion and an improvement in function. Careful evaluation of the available donor nerves including thorough examination and electromyographic testing should always be completed before operation.

  4. Rehabilitation outcomes in children with cerebral palsy during a 2 year period

    PubMed Central

    İçağasıoğlu, Afitap; Mesci, Erkan; Yumusakhuylu, Yasemin; Turgut, Selin Turan; Murat, Sadiye

    2015-01-01

    [Purpose] To observe motor and functional progress of children with cerebral palsy during 2 years. [Subjects and Methods] Pediatric cerebral palsy patients aged 3–15 years (n = 35/69) with 24-month follow-up at our outpatient cerebral palsy clinic were evaluated retrospectively. The distribution of cerebral palsy types was as follows: diplegia (n = 19), hemiplegia (n = 4), and quadriplegia (n = 12). Participants were divided into 3 groups according to their Gross Motor Functional Classification System scores (i.e., mild, moderate, and severe). All participants were evaluated initially and at the final assessment 2 years later. During this time, patients were treated 3 times/week. Changes in motor and functional abilities were assessed based on Gross Motor Function Measure-88 and Wee Functional Independence Measure. [Results] Significant improvements were observed in Gross Motor Function Measure-88 and Wee Functional Independence Measure results in all 35 patients at the end of 2 years. The Gross Motor Function Measure-88 scores correlated with Wee Functional Independence Measure Scores. Marked increases in motor and functional capabilities in mild and moderate cerebral palsy patients were observed in the subgroup assessments, but not in those with severe cerebral palsy. [Conclusion] Rehabilitation may greatly help mild and moderate cerebral palsy patients achieve their full potential. PMID:26644677

  5. Comparison of acyclovir and famciclovir for the treatment of Bell's palsy.

    PubMed

    Kim, Ho Joong; Kim, Sang Hoon; Jung, Junyang; Kim, Sung Su; Byun, Jae Yong; Park, Moon Suh; Yeo, Seung Geun

    2016-10-01

    The relative effectiveness of acyclovir and famciclovir in the treatment of Bell's palsy is unclear. This study therefore compared recovery outcomes in patients with Bell's palsy treated with acyclovir and famciclovir. The study cohort consisted of patients with facial palsy who visited the outpatient clinic between January 2006 and January 2014. Patients were treated with prednisolone plus either acyclovir (n = 457) or famciclovir (n = 245). Patient outcomes were measured using the House-Brackmann scale according to initial severity of disease and underlying disease. The overall recovery rate tended to be higher in the famciclovir than in the acyclovir group. The rate of recovery in patients with initially severe facial palsy (grades V and VI) was significantly higher in the famciclovir than in the acyclovir group (p = 0.01), whereas the rates of recovery in patients with initially moderate palsy (grade III-IV) were similar in the two groups. The overall recovery rates in patients without hypertension or diabetes mellitus were higher in the famciclovir than in the acyclovir group, but the difference was not statistically significant. Treatment with steroid plus famciclovir was more effective than treatment with steroid plus acyclovir in patients with severe facial palsy. Famciclovir may be the antiviral agent of choice in the treatment of patients with severe facial palsy.

  6. Magnetic resonance imaging findings of isolated abducent nerve palsy induced by vascular compression of vertebrobasilar dolichoectasia

    PubMed Central

    Arishima, Hidetaka; Kikuta, Ken-ichiro

    2017-01-01

    If the origin of isolated abducent nerve palsy cannot be found on neuroradiological examinations, diabetes mellitus is known as a probable cause; however, some cases show no potential causes of isolated abducent nerve palsy. Here, we report a 74-year-old male who suffered from diplopia due to isolated left abducent nerve palsy. Magnetic resonance angiography and fast imaging employing steady-state acquisition imaging clearly showed a dolichoectasic vertebrobasilar artery compressing the left abducent nerve upward and outward. There were no abnormal lesions in the brain stem, cavernous sinus, or orbital cavity. Laboratory data showed no abnormal findings. We concluded that neurovascular compression of the left abducent nerve might cause isolated left abducent nerve palsy. We observed him without surgical treatment considering his general condition with angina pectoris and old age. His symptom due to the left abducent nerve palsy persisted. From previous reports, conservative treatment could not improve abducent nerve palsy. Microvascular decompression should be considered for abducent nerve palsy due to vascular compression if patients are young, and their general condition is good. We also discuss interesting characteristics with a review of the literature. PMID:28149097

  7. Habitual physical activity and cardiometabolic risk factors in adults with cerebral palsy.

    PubMed

    Ryan, Jennifer M; Crowley, Vivion E; Hensey, Owen; Broderick, Julie M; McGahey, Ailish; Gormley, John

    2014-09-01

    Adults with cerebral palsy (CP) are known to participate in reduced levels of total physical activity. There is no information available however, regarding levels of moderate-to-vigorous physical activity (MVPA) in this population. Reduced participation in MVPA is associated with several cardiometabolic risk factors. The purpose of this study was firstly to compare levels of sedentary, light, MVPA and total activity in adults with CP to adults without CP. Secondly, the objective was to investigate the association between physical activity components, sedentary behavior and cardiometabolic risk factors in adults with CP. Adults with CP (n=41) age 18-62 yr (mean ± SD=36.5 ± 12.5 yr), classified in Gross Motor Function Classification System level I (n=13), II (n=18) and III (n=10) participated in this study. Physical activity was measured by accelerometry in adults with CP and in age- and sex-matched adults without CP over 7 days. Anthropometric indicators of obesity, blood pressure and several biomarkers of cardiometabolic disease were also measured in adults with CP. Adults with CP spent less time in light, moderate, vigorous and total activity, and more time in sedentary activity than adults without CP (p<0.01 for all). Moderate physical activity was associated with waist-height ratio when adjusted for age and sex (β=-0.314, p<0.05). When further adjustment was made for total activity, moderate activity was associated with waist-height ratio (β=-0.538, p<0.05), waist circumference (β=-0.518, p<0.05), systolic blood pressure (β=-0.592, p<0.05) and diastolic blood pressure (β=-0.636, p<0.05). Sedentary activity was not associated with any risk factor. The findings provide evidence that relatively young adults with CP participate in reduced levels of MVPA and spend increased time in sedentary behavior, potentially increasing their risk of developing cardiometabolic disease.

  8. Role of Kabat rehabilitation in facial nerve palsy: a randomised study on severe cases of Bell's palsy.

    PubMed

    Monini, S; Iacolucci, C M; Di Traglia, M; Lazzarino, A I; Barbara, M

    2016-08-01

    The treatment of Bell's palsy (BP), based on steroids and/or antiviral drugs, may still leave a certain percentage of affected subjects with disfiguring sequelae due to incomplete recovery. The different procedures of physical rehabilitation have not been demonstrated to play a favourable role in this disorder. The aim of the present study was to compare functional outcomes in severe cases of Bell's palsy when treated by steroids alone or by steroids accompanied by Kabat physical rehabilitation. This prospective study included 94 subjects who showed sudden facial nerve (FN) palsy with House-Brackmann grade IV or V and who were divided into two groups on the basis of the therapeutic approach: one group (a) was treated by steroids, and the other (b) received steroids in combination with physical rehabilitation. Medical treatment consisted in administration of steroids at a dosage of 60 mg per day for 15 days; physical rehabilitative treatment consisted in proprioceptive neuromuscular facilitation according to Kabat, and was administered to one of the two groups of subjects. Recovery rate, degree of recovery and time for recovery were compared between the two groups using the Mann-Whitney and univariate logistic regression statistical tests (Ward test). Kabat patients (group b) had about 20 times the odds of improving by three HB grades or more (OR = 17.73, 95% CI = 5.72 to 54.98, p < 0.001) than patients who did not receive physical treatment (group a). The mean speed of recovery in group b was the half of that recorded for group a (non-Kabat subjects). No difference was observed in the incidence of synkineses between the two groups. Steroid treatment appears to provide better and faster recovery in severe cases (HB IV and V) of BP when complemented with Kabat physical rehabilitation.

  9. Newborn with congenital facial palsy and bilateral anotia/atresia of external auditory canal: Rare occurrence

    PubMed Central

    Mahale, Rohan R.; Mehta, Anish; John, Aju Abraham; Buddaraju, Kiran; Shankar, Abhinandan K.; Rangasetty, Srinivasa

    2016-01-01

    Congenital facial palsy (CFP) is clinically defined as facial palsy of the seventh cranial nerve which is present at birth or shortly thereafter. It is generally considered to be either developmental or acquired in origin. Facial palsy of developmental origin is associated with other anomalies including those of pinna and external auditory canal, which range from mild defects to severe microtia and atresia. We report a 2-day-old male newborn that had right CFP with bilateral anotia and atresia of external auditory canals which is rare. PMID:27857806

  10. Unilateral abducens and bilateral facial nerve palsies associated with posterior fossa exploration surgery

    PubMed Central

    Khalil, Ayman; Clerkin, James; Mandiwanza, Tafadzwa; Green, Sandra; Javadpour, Mohsen

    2016-01-01

    Multiple cranial nerves palsies following a posterior fossa exploration confined to an extradural compartment is a rare clinical presentation. This case report describes a young man who developed a unilateral abducens and bilateral facial nerve palsies following a posterior fossa exploration confined to an extradural compartment. There are different theories to explain this presentation, but the exact mechanism remains unclear. We propose that this patient cranial nerve palsies developed following cerebrospinal fluid (CSF) leak, potentially as a consequence of rapid change in CSF dynamics. PMID:26951144

  11. Chinese scalp acupuncture for cerebral palsy in a child diagnosed with stroke in utero.

    PubMed

    Hao, Jason Jishun; Zhongren, Sun; Xian, Shi; Tiansong, Yang

    2012-03-01

    A 6-year-old patient with cerebral palsy was treated with Chinese scalp acupuncture. The Speech I, Speech II, Motor, Foot motor and sensory, and Balance areas were stimulated once a week, then every other week for 15 sessions. His dysarthria, ataxia, and weakness of legs, arms, and hands showed significant improvement from each scalp acupuncture treatment, and after 15 sessions, the patient had recovered completely. This case report demonstrates that Chinese scalp acupuncture can satisfactorily treat a child with cerebral palsy. More research and clinical trials are needed so that the potential of scalp acupuncture to treat cerebral palsy can be fully explored and utilized.

  12. Isolated glossopharyngeal and vagus nerves palsy due to fracture involving the left jugular foramen.

    PubMed

    Alberio, N; Cultrera, F; Antonelli, V; Servadei, F

    2005-07-01

    This report describes a case of delayed post-traumatic glossopharyngeal and vagus nerves palsy (i.e. dysphonia and swallowing dysfunction). A high resolution CT study of the cranial base detected a fracture rim encroaching on the left jugular foramen. Treatment consisted in supportive measures with incomplete recovery during a one-year follow-up period. Lower cranial nerves palsies after head trauma are rare and, should they occur, a thorough investigation in search of posterior cranial base and cranio-cervical lesions is warranted. The presumptive mechanism in our case is a fracture-related oedema and ischemic damage to the nerves leading to the delayed occurrence of the palsy.

  13. Computer and microswitch-based programs to improve academic activities by six children with cerebral palsy.

    PubMed

    Stasolla, Fabrizio; Damiani, Rita; Perilli, Viviana; D'Amico, Fiora; Caffò, Alessandro O; Stella, Anna; Albano, Vincenza; Damato, Concetta; Leone, Antonia Di

    2015-01-01

    This study was aimed at extending the use of assistive technology (i.e. microswitch such as a pressure sensor, interface and laptop) with a new setup, allowing six children with cerebral palsy and extensive motor disabilities to improve their academic activities during classroom. A second objective of the study was to assess a maintenance/generalization phase, occurring three months after the end of the intervention, at participants' homes, involving their parents. A third purpose of the study was to monitor the effects of the intervention program on the indices of positive participations (i.e. constructive engagement) of participants involved. Finally, a social validation procedure involving 36 support teachers as raters was conducted. The study was carried out according to a multiple probe design across behaviours followed by maintenance/generalization phase for each participant. That is, the two behaviours (i.e. choice among academic disciplines and literacy) were learned first singly, then combined together. Results showed an increasing of the performances for all participants involved during intervention phases. Furthermore, during maintenance phase participants consolidated their results. Moreover, positive participation augmented as well. Support teachers, involved in the social validation assessment, considered the combined intervention as more favourable with respect to those singly learned. Clinical, educational and practical implications of the findings are discussed.

  14. Seat surface inclination may affect postural stability during Boccia ball throwing in children with cerebral palsy.

    PubMed

    Tsai, Yung-Shen; Yu, Yi-Chen; Huang, Po-Chang; Cheng, Hsin-Yi Kathy

    2014-12-01

    The aim of the study was to examine how seat surface inclination affects Boccia ball throwing movement and postural stability among children with cerebral palsy (CP). Twelve children with bilateral spastic CP (3 with gross motor function classification system Level I, 5 with Level II, and 4 with Level III) participated in this study. All participants underwent pediatric reach tests and ball throwing performance analyses while seated on 15° anterior- or posterior-inclined, and horizontal surfaces. An electromagnetic motion analysis system was synchronized with a force plate to assess throwing motion and postural stability. The results of the pediatric reach test (p = 0.026), the amplitude of elbow movement (p = 0.036), peak vertical ground reaction force (PVGRF) (p < 0.001), and movement range of the center of pressure (COP) (p < 0.020) were significantly affected by seat inclination during throwing. Post hoc comparisons showed that anterior inclination allowed greater amplitude of elbow movement and PVGRF, and less COP movement range compared with the other inclines. Posterior inclination yielded less reaching distance and PVGRF, and greater COP movement range compared with the other inclines. The anterior-inclined seat yielded superior postural stability for throwing Boccia balls among children with bilateral spastic CP, whereas the posterior-inclined seat caused difficulty.

  15. Common peroneal nerve palsy caused by compression stockings after surgery.

    PubMed

    Güzelküçük, Ümüt; Skempes, Dimitrios; Kumnerddee, Wipoo

    2014-07-01

    Peroneal nerve palsy is one of the more common entrapment neuropathies of the lower limb and can be a result of a multitude of causes. Compression stockings are commonly used for prophylaxis of deep venous thromboembolism after surgery. The entrapment on the head and the neck of the fibula caused by compression stockings is uncommon. In this article, the authors report a 46-yr-old male patient who was operated on for postauricular squamous cell carcinoma of the skin. On the third postoperative day, it was noticed that compression stockings had rolled down, and a linear impression mark was observed under its upper edge at the proximal part of the left cruris. He had left foot drop and difficulty in walking during gait assessment. The needle electromyography confirmed total axonal degeneration of the left peroneal nerve with denervation potentials. The aim of this report was to emphasize the importance of the size and length of the compression stockings and regular skin control in avoiding the risk for peroneal nerve palsy.

  16. Mirror book therapy for the treatment of idiopathic facial palsy.

    PubMed

    Barth, Jodi Maron; Stezar, Gincy L; Acierno, Gabriela C; Kim, Thomas J; Reilly, Michael J

    2014-09-01

    We conducted a retrospective chart review to determine the effectiveness of treating idiopathic facial palsy with mirror book therapy in conjunction with facial physical rehabilitation. We compared outcomes in 15 patients who underwent mirror book therapy in addition to standard therapy with those of 10 patients who underwent standard rehabilitation therapy without the mirror book. Before and after treatment, patients in both groups were rated according to the Facial Grading System (FGS), the Facial Disability Index-Physical (FDIP), and the Facial Disability Index-Social (FDIS). Patients in the mirror therapy group had a mean increase of 24.9 in FGS score, 22.0 in FDIP score, and 25.0 in FDIS score, all of which represented statistically significant improvements over their pretreatment scores. Those who did not receive mirror book therapy had mean increases of 20.8, 19.0, 14.6, respectively; these, too, represented significant improvements over baseline, and thus there was no statistically significant difference in improvement between the two groups. Nevertheless, our results show that patients who used mirror book therapy in addition to standard facial rehabilitation therapy experienced significant improvements in the treatment of idiopathic facial palsy. While further studies are necessary to determine if it has a definitive, statistically significant advantage over standard therapy, we recommend adding this therapy to the rehabilitation program in view of its ease of use, low cost, and lack of side effects.

  17. Differentiation of progressive supranuclear palsy: clinical, imaging and laboratory tools.

    PubMed

    Liscic, R M; Srulijes, K; Gröger, A; Maetzler, W; Berg, D

    2013-05-01

    Progressive supranuclear palsy (PSP) is the most common atypical parkinsonian syndrome comprising two main clinical subtypes: Richardson's syndrome (RS), characterized by prominent postural instability, supranuclear vertical gaze palsy and frontal dysfunction; and PSP-parkinsonism (PSP-P) which is characterized by an asymmetric onset, tremor and moderate initial therapeutic response to levodopa. The early clinical features of PSP-P are often difficult to discern from idiopathic Parkinson's disease (PD), and other atypical parkinsonian disorders, including multiple system atrophy (MSA) and corticobasal syndrome (CBS). In addition, rare PSP subtypes may be overlooked or misdiagnosed if there are atypical features present. The differentiation between atypical parkinsonian disorders and PD is important because the prognoses are different, and there are different responses to therapy. Structural and functional imaging, although currently of limited diagnostic value for individual use in early disease, may contribute valuable information in the differential diagnosis of PSP. A growing body of evidence shows the importance of CSF biomarkers in distinguishing between atypical parkinsonian disorders particularly early in their course when disease-modifying therapies are becoming available. However, specific diagnostic CSF biomarkers have yet to be identified. In the absence of reliable disease-specific markers, we provide an update of the recent literature on the assessment of clinical symptoms, pathology, neuroimaging and biofluid markers that might help to distinguish between these overlapping conditions early in the course of the disease.

  18. Progressive supranuclear palsy (PSP): Richardson syndrome and other PSP variants.

    PubMed

    Lopez, G; Bayulkem, K; Hallett, M

    2016-10-01

    Phenotypic heterogeneity of progressive supranuclear palsy (PSP) has been increasingly reported in the literature and can be the source of incorrect clinical diagnosis particularly in the early stages of the disease when the classically associated symptoms of early falls and supranuclear gaze palsy may not be apparent. In addition to Richardson syndrome (RS), several atypical clinical phenotypes have been described. Advances in genetic, neuroimaging, and biochemical/molecular technologies contribute to the identification of these clinical subtypes in the context of typical PSP pathological findings. Our goal is to review the phenomenology reported in the literature that is associated with confirmed histopathological changes consistent with a PSP diagnosis and to highlight the clinical spectrum of PSP. A systematic review of the literature in PubMed through July 2015 using MeSH terms and key words related to PSP was conducted. Articles describing PSP classifications, diagnostic criteria, and case reports were reviewed and summarized. Additional PSP phenotypes not seen in recent clinicopathological studies are included. These include primary lateral sclerosis, pallido-nigro-luysian degeneration, axonal dystrophy, and multiple system atrophy in the spectrum of atypical PSP variants beyond the traditionally classified PSP subtypes. This review is intended to help with the diagnostic challenges of atypical PSP variants. We believe that large multicenter clinicopathological studies will help expand our understanding of etiology and specific mechanisms of neurodegeneration and will aid in the appropriate interpretation of outcomes when conducting clinical and basic science research.

  19. The natural history and management of brachial plexus birth palsy.

    PubMed

    Buterbaugh, Kristin L; Shah, Apurva S

    2016-12-01

    Brachial plexus birth palsy (BPBP) is an upper extremity paralysis that occurs due to traction injury of the brachial plexus during childbirth. Approximately 20 % of children with brachial plexus birth palsy will have residual neurologic deficits. These permanent and significant impacts on upper limb function continue to spur interest in optimizing the management of a problem with a highly variable natural history. BPBP is generally diagnosed on clinical examination and does not typically require cross-sectional imaging. Physical examination is also the best modality to determine candidates for microsurgical reconstruction of the brachial plexus. The key finding on physical examination that determines need for microsurgery is recovery of antigravity elbow flexion by 3-6 months of age. When indicated, both microsurgery and secondary shoulder and elbow procedures are effective and can substantially improve functional outcomes. These procedures include nerve transfers and nerve grafting in infants and secondary procedures in children, such as botulinum toxin injection, shoulder tendon transfers, and humeral derotational osteotomy.

  20. Causes of Secondary Radial Nerve Palsy and Results of Treatment

    PubMed Central

    Reichert, Paweł; Wnukiewicz, Witold; Witkowski, Jarosław; Bocheńska, Aneta; Mizia, Sylwia; Gosk, Jerzy; Zimmer, Krzysztof

    2016-01-01

    Background The aim of this study was to analyze the causes that lead to secondary damage of the radial nerve and to discuss the results of reconstructive treatment. Material/Methods The study group consisted of 33 patients treated for radial nerve palsy after humeral fractures. Patients were diagnosed based on clinical examinations, ultrasonography, electromyography, or nerve conduction velocity. During each operation, the location and type of nerve damage were analyzed. During the reconstructive treatment, neurolysis, direct neurorrhaphy, or reconstruction with a sural nerve graft was used. The outcomes were evaluated using the Medical Research Council (MRC) scales and the quick DASH score. Results Secondary radial nerve palsy occurs after open reduction and internal fixation (ORIF) by plate, as well as by closed reduction and internal fixation (CRIF) by nail. In the case of ORIF, it most often occurs when the lateral approach is used, as in the case of CRIF with an insertion interlocking screws. The results of the surgical treatment were statistically significant and depended on the time between nerve injury and revision (reconstruction) surgery, type of damage to the radial nerve, surgery treatment, and type of fixation. Treatment results were not statistically significant, depending on the type of fracture or location of the nerve injury. Conclusions The potential risk of radial nerve neurotmesis justifies an operative intervention to treat neurological complications after a humeral fracture. Adequate surgical treatment in many of these cases allows for functional recovery of the radial nerve. PMID:26895570

  1. Unusual insidious spinal accessory nerve palsy: a case report

    PubMed Central

    2010-01-01

    Introduction Isolated spinal accessory nerve dysfunction has a major detrimental impact on the functional performance of the shoulder girdle, and is a well-documented complication of surgical procedures in the posterior triangle of the neck. To the best of our knowledge, the natural course and the most effective way of handling spontaneous spinal accessory nerve palsy has been described in only a few instances in the literature. Case presentation We report the case of a 36-year-old Caucasian, Greek man with spontaneous unilateral trapezius palsy with an insidious course. To the best of our knowledge, few such cases have been documented in the literature. The unusual clinical presentation and functional performance mismatch with the imaging findings were also observed. Our patient showed a deterioration that was different from the usual course of this pathology, with an early onset of irreversible trapezius muscle dysfunction two months after the first clinical signs started to manifest. A surgical reconstruction was proposed as the most efficient treatment, but our patient declined this. Although he failed to recover fully after conservative treatment for eight months, he regained moderate function and is currently virtually pain-free. Conclusion Clinicians have to be aware that due to anatomical variation and the potential for compensation by the levator scapulae, the clinical consequences of any injury to the spinal accessory nerve may vary. PMID:20507553

  2. Flexor carpi ulnaris transplant and its use in cerebral palsy.

    PubMed

    GREEN, W T; BANKS, H H

    1962-10-01

    In our experience, transplantation of the flexor carpi ulnaris is the single best procedure to improve function of the wrist and hand in cerebral palsy. It aids dorsiflexion and supination and, at the same time, preserves active motion of the wrist. This is highly desirable since finger control may be seriously impaired in cerebral palsy and the additional motion provided at the wrist may be most helpful. In fact, since using this procedure we have found that fusion of the wrist is rarely indicated. A good result from a flexor carpi ulnaris transplant depends first upon the careful choice of the patient for the procedure.Requirements for the best function from the transplant include reasonable finger control preoperatively with passive flexibility of the hand, wrist, and forearm; stereognosis of the involved hand; reasonable intelligence; high motivation of the patient and family; and a thorough postoperative regimen.The difference between a good result and a poor result was often the thoroughness of the postoperative care. The value of both exercise and support for the part cannot be overemphasized nor can one underestimate the importance of the interest and ambitions of the patient and his family. The procedure should be postponed until the age when the individual may be expected to cooperate in the training of the transplant.

  3. Video-based early cerebral palsy prediction using motion segmentation.

    PubMed

    Rahmati, Hodjat; Aamo, Ole Morten; Stavdahl, Øyvind; Dragon, Ralf; Adde, Lars

    2014-01-01

    Analysing distinct motion patterns that occur during infancy can be a way through early prediction of cerebral palsy. This analysis can only be performed by well-trained expert clinicians, and hence can not be widespread, specially in poor countries. In order to decrease the need for experts, computer-based methods can be applied. If individual motions of different body parts are available, these methods could achieve more accurate results with better clinical insight. Thus far, motion capture systems or the like were needed in order to provide such data. However, these systems not only need laboratory and experts to set up the experiment, but they could be intrusive for the infant's motions. In this paper we build up our prediction method on a solution based on a single video camera, that is far less intrusive and a lot cheaper. First, the motions of different body parts are separated, then, motion features are extracted and used to classify infants to healthy or affected. Our experimental results show that visually obtained motion data allows cerebral palsy detection as accurate as state-of-the-art electromagnetic sensor data.

  4. Rehabilitation Needs of People with Cerebral Palsy: a qualitative Study

    PubMed Central

    sharifi, Azam; Kamali, Mohammad; Chabok, Ali

    2014-01-01

    Background: Cerebral palsy (CP) describes a group of disorders regarding the development of movement and posture, which causes limitations in activity. In fact, it is attributed to non-progressive disturbances that occur during brain development in fetus or infant. CP disorders may accompany by speech, auditory, visual abnormality, seizure, learning disorder, mental retardation and etc. Due to the variation in disorders and ultimately the needs that are made in the wake of the diseases, understanding the needs of these patients is essential. Methods: This research was a qualitative study, with phenomenology method and sampling was purposeful. The participants were 17 cerebral palsy people (6 female and 11 male, with aged 15 to 43). Data were collected by deep interview with open-end questions and analyzed by collaizi method. Results: During the interview sessions, notes and ideas were classified and assorted, so that, the rehabilitation needs of people with CP were understood according to the statements of participants. The results of this study were placed in four domains, 3 themes and 22 subthemes. The domains included social, emotional needs, economic, and therapeutic needs. Conclusion: The requirements studies in this research were particularly introduced by patients with CP. People in the society, who might have contact with these patients, are responsible to help them to overcome their problems and disabilities. PMID:25250261

  5. Somatosensory eye blink reflex in peripheral facial palsy.

    PubMed

    Erkol, Gökhan; Kiziltan, Meral E; Uluduz, Derya; Uzun, Nurten

    2009-09-04

    To investigate the association between somatosensory blink reflex (SBR) and peripheral facial palsy (PFP) severity and trigeminal blink reflex (BR) changes in cases with PFP and subsequent postparalytic facial syndrome development (PFS). One hundred and twenty subjects with peripheral facial palsy and post-facial syndrome and 44 age and gender matched healthy volunteers were enrolled to this study. Blink reflexes and somatosensory blink reflex were studied in all. The association between R1 and R2 responses of the BR and SBR positivity was investigated. SBR was elicited in 36.3% of normal subjects, in 18.3% of PFP and in 65.3% of PFS patients. In the paralytic side, the frequency of SBR positivity was significantly lower in PFP group compared to controls and SBR was most frequently observed in patients with PFS. Compared to PFP and control groups, SBR positivity on the non-paralytic side significantly revealed a higher rate in PFS patients. SBR positivity of patients in whom R1 or R2 were absent, was significantly lower than those subjects with prolonged or normal R1 or R2 responses. PFP and successive PFS are good models for the sensory motor gate mechanisms and/or excitability enhancement of brainstem neurons responsible for SBR.

  6. Bell's palsy: symptoms preceding and accompanying the facial paresis.

    PubMed

    De Seta, Daniele; Mancini, Patrizia; Minni, Antonio; Prosperini, Luca; De Seta, Elio; Attanasio, Giuseppe; Covelli, Edoardo; De Carlo, Andrea; Filipo, Roberto

    2014-01-01

    This individual prospective cohort study aims to report and analyze the symptoms preceding and accompanying the facial paresis in Bell's palsy (BP). Two hundred sixty-nine patients affected by BP with a maximum delay of 48 hours from the onset were enrolled in the study. The evolution of the facial paresis expressed as House-Brackmann grade in the first 10 days and its correlation with symptoms were analyzed. At the onset, 136 patients presented postauricular pain, 114 were affected by dry eye, and 94 reported dysgeusia. Dry mouth was present in 54 patients (19.7%), facial pain, hyperlacrimation, aural fullness, and hyperacusis represented a smaller percentage of the reported symptoms. After 10 days, 39.9% of the group had a severe paresis while 10.2% reached a complete recovery. Dry mouth at the onset was correlated with severe grade of palsy and was prognostic for poor recovery in the early period. These outcomes lead to the deduction that the nervus intermedius plays an important role in the presentation of the BP and it might be responsible for most of the accompanying symptomatology of the paresis. Our findings could be of important interest to early address a BP patient to further examinations and subsequent therapy.

  7. Bell's Palsy: Symptoms Preceding and Accompanying the Facial Paresis

    PubMed Central

    Mancini, Patrizia; Minni, Antonio; Prosperini, Luca; De Seta, Elio; Attanasio, Giuseppe; Covelli, Edoardo; De Carlo, Andrea; Filipo, Roberto

    2014-01-01

    This individual prospective cohort study aims to report and analyze the symptoms preceding and accompanying the facial paresis in Bell's palsy (BP). Two hundred sixty-nine patients affected by BP with a maximum delay of 48 hours from the onset were enrolled in the study. The evolution of the facial paresis expressed as House-Brackmann grade in the first 10 days and its correlation with symptoms were analyzed. At the onset, 136 patients presented postauricular pain, 114 were affected by dry eye, and 94 reported dysgeusia. Dry mouth was present in 54 patients (19.7%), facial pain, hyperlacrimation, aural fullness, and hyperacusis represented a smaller percentage of the reported symptoms. After 10 days, 39.9% of the group had a severe paresis while 10.2% reached a complete recovery. Dry mouth at the onset was correlated with severe grade of palsy and was prognostic for poor recovery in the early period. These outcomes lead to the deduction that the nervus intermedius plays an important role in the presentation of the BP and it might be responsible for most of the accompanying symptomatology of the paresis. Our findings could be of important interest to early address a BP patient to further examinations and subsequent therapy. PMID:25544960

  8. Recurrent unilateral facial nerve palsy in a child with dehiscent facial nerve canal

    PubMed Central

    Liu, Christopher; Ulualp, Seckin O; Koral, Korgun

    2016-01-01

    Objective: The dehiscent facial nerve canal has been well documented in histopathological studies of temporal bones as well as in clinical setting. We describe clinical and radiologic features of a child with recurrent facial nerve palsy and dehiscent facial nerve canal. Methods: Retrospective chart review. Results: A 5-year-old male was referred to the otolaryngology clinic for evaluation of recurrent acute otitis media and hearing loss. He also developed recurrent left peripheral FN palsy associated with episodes of bilateral acute otitis media. High resolution computed tomography of the temporal bones revealed incomplete bony coverage of the tympanic segment of the left facial nerve. Conclusions: Recurrent peripheral FN palsy may occur in children with recurrent acute otitis media in the presence of a dehiscent facial nerve canal. Facial nerve canal dehiscence should be considered in the differential diagnosis of children with recurrent peripheral FN palsy. PMID:28228958

  9. Reading, 'Righting', and Arithmetic for the Cerebral Palsied Child: A Therapeutic Approach for the Classroom Teacher.

    ERIC Educational Resources Information Center

    Dupont, Blanche B.; Tucker, Susan L.

    1985-01-01

    The article offers management strategies to help teachers of elementary students with cerebral palsy. Suggestions address aspects of neuro-developmental and sensorimotor integration and describe such activities as sandbox writing, feel-it boxes, and painting. (CL)

  10. Reliability of 3D upper limb motion analysis in children with obstetric brachial plexus palsy.

    PubMed

    Mahon, Judy; Malone, Ailish; Kiernan, Damien; Meldrum, Dara

    2017-03-01

    Kinematics, measured by 3D upper limb motion analysis (3D-ULMA), can potentially increase understanding of movement patterns by quantifying individual joint contributions. Reliability in children with obstetric brachial plexus palsy (OBPP) has not been established.

  11. Treatment of os odontoideum in a patient with spastic quadriplegic cerebral palsy.

    PubMed

    Akpolat, Yusuf T; Fegale, Ben; Cheng, Wayne K

    2015-08-01

    Severe atlantoaxial instability due to os odontoideum in a patient with spastic cerebral palsy has not been well described. There is no consensus on treatment, particularly with regard to conservative or surgical options. Our patient was a 9-year-old girl with spastic cerebral palsy and unstable os odontoideum as an incidental finding. During the waiting period for elective surgical treatment, the patient developed respiratory compromise. Surgery was performed to reduce the subluxation and for C1-C2 arthrodesis and the girl regained baseline respiratory function. A CT scan was obtained 1 year after the initial surgery and revealed adequate maintenance of reduction and patency of the spinal canal. This patient highlights the fact that unstable os odontoideum can cause mortality due to respiratory distress in patients with spastic cerebral palsy. This is an important factor in deciding treatment options for cerebral palsy patients with low functional demand. We review the relevant literature.

  12. Effect of acupuncture on the brain in children with spastic cerebral palsy using functional neuroimaging (FMRI).

    PubMed

    Wu, Yun; Jin, Zhen; Li, Ke; Lu, Zhong-Li; Wong, Virginia; Han, Tong-Li; Zheng, Hua; Caspi, Opher; Liu, Gang; Zeng, Ya-Wei; Zou, Li-Ping

    2008-11-01

    We study the effect of acupuncture on brain activation patterns in children with cerebral palsy using functional magnetic resonance imaging (fMRI). fMRI of the whole brain was performed in 11 children with cerebral palsy and 10 healthy children during stimulation of a common acupoint in Traditional Medicine [Liv3 (Taichong)] on the left foot. We use both twisting and nontwisting methods with a blocked paradigm on a 2.0 Tesla MRI scanner. Functional data were analyzed by using Statistical Parametric Mapping software (SPM 99). Both signal increase and decrease in various regions of the brain were found in both groups of children. However, the pattern was different for the 2 groups, especially with decreases in signal regions. We suggest that the observed differences between children with cerebral palsy and healthy children with the stimulation of acupoint Liv3 might be due to blockage of the liver meridian in children with cerebral palsy.

  13. Sensory and Perceptual Functions in the Cerebral Palsied. III. Some Visual Perceptual Relationships

    ERIC Educational Resources Information Center

    Breakey, Arnold Stewart; And Others

    1974-01-01

    The relationships between specific aspects of peripheral ocular defects and perceptual deficits were investigated in a cerebral palsied population of 60 spastics, 60 athetoids, and 60 non-neurologically impaired Ss, 7 to 21 years of age. (Author/MC)

  14. Vertical muscle transposition with silicone band belting in VI nerve palsy

    PubMed Central

    Freitas, Cristina

    2016-01-01

    A woman aged 60 years developed a Millard-Gubler syndrome after a diagnosis of a cavernous angioma in the median and paramedian areas of the pons. In this context, she presented a right VI nerve palsy, right conjugate gaze palsy, facial palsy and left hemiparesis. To improve the complete VI nerve palsy, we planned a modified transposition approach, in which procedure we made a partial transposition of vertical rectus with a silicone band that was fixated posteriorly. After the procedure, the patient gained the ability to slightly abduct the right eye. We found no compensatory torticollis in the primary position of gaze. There was also an improvement of elevation and depression movements of the right eye. We obtained satisfactory results with a theoretically reversible technique, which is adjustable intraoperatively with no need of muscle detachment, preventing anterior segment ischaemia and allowing simultaneous recession of the medial rectus muscles, if necessary. PMID:27974341

  15. Predictors of reading comprehension in children with cerebral palsy and typically developing children.

    PubMed

    Asbell, Shana; Donders, Jacobus; Van Tubbergen, Marie; Warschausky, Seth

    2010-01-01

    Predictors of reading comprehension were evaluated in 41 children with cerebral palsy and 74 typically developing children between the ages of 6 and 12 years. Regression analyses were conducted to determine the relative contributions of measures of phonemic awareness, receptive vocabulary, and general reasoning to variance in reading comprehension. All three independent variables were statistically significant predictors of reading comprehension in both groups of participants. The impact of phonemic awareness on reading comprehension was moderated by age, but only in the typically developing group. Within the group with cerebral palsy, there was an indirect effect of functional expressive ability on reading comprehension, mediated by phonemic awareness. It is concluded that largely the same variables predict reading comprehension in children with cerebral palsy as in typically developing children, but that children with cerebral palsy continue to rely on phonological processing for a more protracted period of time.

  16. Isolated and bilateral simultaneous facial palsy disclosing early human immunodeficiency virus infection

    PubMed Central

    Sathirapanya, Pornchai

    2015-01-01

    Bilateral lower motor neuron type facial palsy is an unusual neurological disorder. There are few reports that associate it with the human immunodeficiency virus (HIV) infection on initial presentation. A 51-year-old married woman, who was previously healthy and had no risk of HIV infection, presented solely with bilateral simultaneous facial palsy. A positive HIV serology test was confirmed by an enzyme-linked immunosorbent assay test. Following a short course of oral prednisolone, the patient recovered completely from facial palsy in three months, even though an antiretroviral treatment was suspended. Exclusion of HIV infection in patients with bilateral facial palsy is essential for early diagnosis and management of HIV. PMID:26106247

  17. Peer Pressure

    MedlinePlus

    ... Surgery? A Week of Healthy Breakfasts Shyness Peer Pressure KidsHealth > For Teens > Peer Pressure A A A ... for the school play. previous continue When the Pressure's On Sometimes, though, the stresses in your life ...

  18. Blood pressure

    MedlinePlus Videos and Cool Tools

    Normal blood pressure is important for proper blood flow to the body's organs and tissues. The force of the blood on the walls of the arteries is called blood pressure. Blood pressure is measured both as the heart ...

  19. Motor palsies of cranial nerves (excluding VII) after vaccination: reports to the US Vaccine Adverse Event Reporting System.

    PubMed

    Woo, Emily Jane; Winiecki, Scott K; Ou, Alan C

    2014-01-01

    We reviewed cranial nerve palsies, other than VII, that have been reported to the US Vaccine Adverse Event Reporting System (VAERS). We examined patterns for differences in vaccine types, seriousness, age, and clinical characteristics. We identified 68 reports of cranial nerve palsies, most commonly involving the oculomotor (III), trochlear (IV), and abducens (VI) nerves. Isolated cranial nerve palsies, as well as palsies occurring as part of a broader clinical entity, were reported. Forty reports (59%) were classified as serious, suggesting that a cranial nerve palsy may sometimes be the harbinger of a broader and more ominous clinical entity, such as a stroke or encephalomyelitis. There was no conspicuous clustering of live vs. inactivated vaccines. The patient age range spanned the spectrum from infants to the elderly. Independent data may help to clarify whether, when, and to what extent the rates of cranial nerve palsies following particular vaccines may exceed background levels.

  20. Familial long thoracic nerve palsy: a manifestation of brachial plexus neuropathy.

    PubMed

    Phillips, L H

    1986-09-01

    Long thoracic nerve palsy causes weakness of the serratus anterior muscle and winging of the scapula. It is usually traumatic in origin. Isolated long thoracic nerve palsy has not been recognized as the major manifestation of familial brachial plexus neuropathy, but I have studied the syndrome in four members of three generations of one family. One individual suffered an episode of facial paresis. The inheritance pattern was autosomal dominant.

  1. An unusual presentation of Bell's palsy: A case report and review of literature

    PubMed Central

    McFarlin, Anna; Peckler, Bradley

    2008-01-01

    In clinical medicine there may be times when clinical conditions manifest differently both when they present individually or concomitantly. Such scenarios warrant a broader differential diagnosis with thorough investigations. We present one such case of a patient of Bell's palsy with unexplained eye pain on the ipsilateral side. The patient had a chronic retinal detachment which became worse due to the concomitant Bell's palsy. PMID:19561942

  2. Effects of Prolonged Standing on Gait in Children with Spastic Cerebral Palsy

    ERIC Educational Resources Information Center

    Salem, Yasser; Lovelace-Chandler, Venita; Zabel, Reta J.; McMillan, Amy Gross

    2010-01-01

    The purpose of this study was to determine the effects of prolonged standing on gait characteristics in children with spastic cerebral palsy. Six children with spastic cerebral palsy participated in this study with an average age of 6.5 years (SD = 2.5, range = 4.0-9.8 years). A reverse baseline design (A-B-A) was used over a 9-week period. During…

  3. Restricted Arm Swing Affects Gait Stability and Increased Walking Speed Alters Trunk Movements in Children with Cerebral Palsy

    PubMed Central

    Delabastita, Tijs; Desloovere, Kaat; Meyns, Pieter

    2016-01-01

    Observational research suggests that in children with cerebral palsy, the altered arm swing is linked to instability during walking. Therefore, the current study investigates whether children with cerebral palsy use their arms more than typically developing children, to enhance gait stability. Evidence also suggests an influence of walking speed on gait stability. Moreover, previous research highlighted a link between walking speed and arm swing. Hence, the experiment aimed to explore differences between typically developing children and children with cerebral palsy taking into account the combined influence of restricting arm swing and increasing walking speed on gait stability. Spatiotemporal gait characteristics, trunk movement parameters and margins of stability were obtained using three dimensional gait analysis to assess gait stability of 26 children with cerebral palsy and 24 typically developing children. Four walking conditions were evaluated: (i) free arm swing and preferred walking speed; (ii) restricted arm swing and preferred walking speed; (iii) free arm swing and high walking speed; and (iv) restricted arm swing and high walking speed. Double support time and trunk acceleration variability increased more when arm swing was restricted in children with bilateral cerebral palsy compared to typically developing children and children with unilateral cerebral palsy. Trunk sway velocity increased more when walking speed was increased in children with unilateral cerebral palsy compared to children with bilateral cerebral palsy and typically developing children and in children with bilateral cerebral palsy compared to typically developing children. Trunk sway velocity increased more when both arm swing was restricted and walking speed was increased in children with bilateral cerebral palsy compared to typically developing children. It is proposed that facilitating arm swing during gait rehabilitation can improve gait stability and decrease trunk movements in

  4. Restricted Arm Swing Affects Gait Stability and Increased Walking Speed Alters Trunk Movements in Children with Cerebral Palsy.

    PubMed

    Delabastita, Tijs; Desloovere, Kaat; Meyns, Pieter

    2016-01-01

    Observational research suggests that in children with cerebral palsy, the altered arm swing is linked to instability during walking. Therefore, the current study investigates whether children with cerebral palsy use their arms more than typically developing children, to enhance gait stability. Evidence also suggests an influence of walking speed on gait stability. Moreover, previous research highlighted a link between walking speed and arm swing. Hence, the experiment aimed to explore differences between typically developing children and children with cerebral palsy taking into account the combined influence of restricting arm swing and increasing walking speed on gait stability. Spatiotemporal gait characteristics, trunk movement parameters and margins of stability were obtained using three dimensional gait analysis to assess gait stability of 26 children with cerebral palsy and 24 typically developing children. Four walking conditions were evaluated: (i) free arm swing and preferred walking speed; (ii) restricted arm swing and preferred walking speed; (iii) free arm swing and high walking speed; and (iv) restricted arm swing and high walking speed. Double support time and trunk acceleration variability increased more when arm swing was restricted in children with bilateral cerebral palsy compared to typically developing children and children with unilateral cerebral palsy. Trunk sway velocity increased more when walking speed was increased in children with unilateral cerebral palsy compared to children with bilateral cerebral palsy and typically developing children and in children with bilateral cerebral palsy compared to typically developing children. Trunk sway velocity increased more when both arm swing was restricted and walking speed was increased in children with bilateral cerebral palsy compared to typically developing children. It is proposed that facilitating arm swing during gait rehabilitation can improve gait stability and decrease trunk movements in

  5. Incidence, recovery, and management of serratus anterior muscle palsy after axillary node dissection.

    PubMed

    Duncan, M A; Lotze, M T; Gerber, L H; Rosenberg, S A

    1983-08-01

    The purposes of this study were to determine the occurrence of serratus anterior muscle weakness after axillary node dissection, to monitor the recovery of serratus anterior muscle strength, and to compare shoulder range of motion in palsied and nonpalsied groups. Thirty-six patients were studied who had 40 axillary node dissections for breast carcinoma or malignant melanoma. Range of motion and manual muscle tests were done preoperatively and at specific postoperative intervals by two observers. To regain range of motion, all subjects were treated daily while hospitalized and as needed when outpatients. Twelve of the 40 dissections (30%) resulted in serratus anterior muscle palsy after surgery. Strength was normal in all the palsied shoulders by the sixth month after surgery. Both the palsied and nonpalsied groups had comparable range of motion at each assessment. The mechanism of long thoracic nerve injury and the clinical significance of serratus anterior muscle palsy are discussed as well as the rationale for early detection and proper physical therapy management. This study suggests that serratus anterior muscle palsy is a frequent but reversible event after axillary node dissection.

  6. Positron emission tomography imaging of tau pathology in progressive supranuclear palsy.

    PubMed

    Coakeley, Sarah; Cho, Sang Soo; Koshimori, Yuko; Rusjan, Pablo; Harris, Madeleine; Ghadery, Christine; Kim, Jinhee; Lang, Anthony E; Wilson, Alan; Houle, Sylvain; Strafella, Antonio P

    2016-01-01

    Progressive supranuclear palsy is a rare form of atypical Parkinsonism that differs neuropathologically from other parkinsonian disorders. While many parkinsonian disorders such as Parkinson's disease, Lewy body dementia, and multiple system atrophy are classified as synucleinopathies, progressive supranuclear palsy is coined a tauopathy due to the aggregation of pathological tau in the brain. [(18)F]AV-1451 (also known as [(18)F]-T807) is a positron emission tomography radiotracer that binds to paired helical filaments of tau in Alzheimer's disease. We investigated whether [(18)F]AV-1451 could be used as biomarker for the diagnosis and disease progression monitoring in progressive supranuclear palsy. Six progressive supranuclear palsy, six Parkinson's disease, and 10 age-matched healthy controls were recruited. An anatomical MRI and a 90-min PET scan, using [(18)F]AV-1451, were acquired from all participants. The standardized uptake value ratio from 60 to 90 min post-injection was calculated in each region of interest, using the cerebellar cortex as a reference region. No significant differences in standardized uptake value ratios were detected in our progressive supranuclear palsy group compared to the two control groups. [(18)F]AV-1451 may bind selectivity to the paired helical filaments in Alzheimer's disease, which differ from the straight conformation of tau filaments in progressive supranuclear palsy.

  7. De novo point mutations in patients diagnosed with ataxic cerebral palsy.

    PubMed

    Parolin Schnekenberg, Ricardo; Perkins, Emma M; Miller, Jack W; Davies, Wayne I L; D'Adamo, Maria Cristina; Pessia, Mauro; Fawcett, Katherine A; Sims, David; Gillard, Elodie; Hudspith, Karl; Skehel, Paul; Williams, Jonathan; O'Regan, Mary; Jayawant, Sandeep; Jefferson, Rosalind; Hughes, Sarah; Lustenberger, Andrea; Ragoussis, Jiannis; Jackson, Mandy; Tucker, Stephen J; Németh, Andrea H

    2015-07-01

    Cerebral palsy is a sporadic disorder with multiple likely aetiologies, but frequently considered to be caused by birth asphyxia. Genetic investigations are rarely performed in patients with cerebral palsy and there is little proven evidence of genetic causes. As part of a large project investigating children with ataxia, we identified four patients in our cohort with a diagnosis of ataxic cerebral palsy. They were investigated using either targeted next generation sequencing or trio-based exome sequencing and were found to have mutations in three different genes, KCNC3, ITPR1 and SPTBN2. All the mutations were de novo and associated with increased paternal age. The mutations were shown to be pathogenic using a combination of bioinformatics analysis and in vitro model systems. This work is the first to report that the ataxic subtype of cerebral palsy can be caused by de novo dominant point mutations, which explains the sporadic nature of these cases. We conclude that at least some subtypes of cerebral palsy may be caused by de novo genetic mutations and patients with a clinical diagnosis of cerebral palsy should be genetically investigated before causation is ascribed to perinatal asphyxia or other aetiologies.

  8. 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.

  9. De novo point mutations in patients diagnosed with ataxic cerebral palsy

    PubMed Central

    Parolin Schnekenberg, Ricardo; Perkins, Emma M.; Miller, Jack W.; Davies, Wayne I. L.; D’Adamo, Maria Cristina; Pessia, Mauro; Fawcett, Katherine A.; Sims, David; Gillard, Elodie; Hudspith, Karl; Skehel, Paul; Williams, Jonathan; O’Regan, Mary; Jayawant, Sandeep; Jefferson, Rosalind; Hughes, Sarah; Lustenberger, Andrea; Ragoussis, Jiannis

    2015-01-01

    Cerebral palsy is a sporadic disorder with multiple likely aetiologies, but frequently considered to be caused by birth asphyxia. Genetic investigations are rarely performed in patients with cerebral palsy and there is little proven evidence of genetic causes. As part of a large project investigating children with ataxia, we identified four patients in our cohort with a diagnosis of ataxic cerebral palsy. They were investigated using either targeted next generation sequencing or trio-based exome sequencing and were found to have mutations in three different genes, KCNC3, ITPR1 and SPTBN2. All the mutations were de novo and associated with increased paternal age. The mutations were shown to be pathogenic using a combination of bioinformatics analysis and in vitro model systems. This work is the first to report that the ataxic subtype of cerebral palsy can be caused by de novo dominant point mutations, which explains the sporadic nature of these cases. We conclude that at least some subtypes of cerebral palsy may be caused by de novo genetic mutations and patients with a clinical diagnosis of cerebral palsy should be genetically investigated before causation is ascribed to perinatal asphyxia or other aetiologies. PMID:25981959

  10. Surgical Treatment Guidelines for Digital Deformity Associated With Intrinsic Muscle Spasticity (Intrinsic Plus Foot) in Adults With Cerebral Palsy.

    PubMed

    Boffeli, Troy J; Collier, Rachel C

    2015-01-01

    Intrinsic plus foot deformity has primarily been associated with cerebral palsy and involves spastic contracture of the intrinsic musculature with resultant toe deformities. Digital deformity is caused by a dynamic imbalance between the intrinsic muscles in the foot and extrinsic muscles in the lower leg. Spastic contracture of the toes frequently involves curling under of the lesser digits or contracture of the hallux into valgus or plantarflexion deformity. Patients often present with associated pressure ulcers, deformed toenails, shoe or brace fitting challenges, and pain with ambulation or transfers. Four different patterns of intrinsic plus foot deformity have been observed by the authors that likely relate to the different patterns of muscle involvement. Case examples are provided of the 4 patterns of intrinsic plus foot deformity observed, including global intrinsic plus lesser toe deformity, isolated intrinsic plus lesser toe deformity, intrinsic plus hallux valgus deformity, and intrinsic plus hallux flexus deformity. These case examples are presented to demonstrate each type of deformity and our approach for surgical management according to the contracture pattern. The surgical approach has typically involved tenotomy, capsulotomy, or isolated joint fusion. The main goals of surgical treatment are to relieve pain and reduce pressure points through digital realignment in an effort to decrease the risk of pressure sores and allow more effective bracing to ultimately improve the patient's mobility.

  11. Diplopia, Convergent Strabismus, and Eye Abduction Palsy in a 12-Year-Old Boy with Autoimmune Thyroiditis

    PubMed Central

    Pinto, Maria do Carmo; Limbert, Catarina; Lopes, Lurdes

    2016-01-01

    Pseudotumor cerebri (PTC) is defined by clinical criteria of increased intracranial pressure, elevated intracranial pressure with normal cerebrospinal fluid (CSF) composition, and exclusion of other causes such tumors, vascular abnormalities, or infections. The association of PTC with levothyroxine (LT4) has been reported. A 12-year-old boy has been followed up for autoimmune thyroiditis under LT4. Family history was irrelevant for endocrine or autoimmune diseases. A TSH level of 4.43 μUI/mL (0.39–3.10) motivated a LT4 adjustment from 75 to 88 μg/day. Five weeks later, he developed horizontal diplopia, convergent strabismus with left eye abduction palsy, and papilledema. Laboratorial evaluation revealed elevated free thyroxine level (1.05 ng/dL [0.65–1.01]) and low TSH, without other alterations. Lumbar puncture was performed and CSF opening pressure was 24 cm H2O with normal composition. Blood and CSF cultures were sterile. Brain MRI was normal. LT4 was temporarily discontinued and progressive improvement was observed, with a normal fundoscopy at day 10 and reversion of diplopia one month later. LT4 was restarted at lower dose and gradually titrated. The boy is currently asymptomatic. This case discloses the potential role of LT4 in inducing PTC. Despite its rarity and unclear association, PTC must be seen as a potential complication of LT4, after excluding all other intracranial hypertension causes. PMID:27379191

  12. Effect of postural insoles on static and functional balance in children with cerebral palsy: A randomized controlled study

    PubMed Central

    Christovão, Thaluanna C. L.; Pasini, Hugo; Grecco, Luanda A. C.; Ferreira, Luiz A. B.; Duarte, Natália A. C.; Oliveira, Cláudia S.

    2015-01-01

    BACKGROUND: Improved gait efficiency is one of the goals of therapy for children with cerebral palsy (CP). Postural insoles can allow more efficient gait by improving biomechanical alignment. OBJECTIVE: The aim of the present study was to determine the effect of the combination of postural insoles and ankle-foot orthoses on static and functional balance in children with CP. METHOD: A randomized, controlled, double-blind, clinical trial. After meeting legal requirements and the eligibility criteria, 20 children between four and 12 years of age were randomly allocated either to the control group (CG) (n=10) or the experimental group (EG) (n=10). The CG used placebo insoles and the EG used postural insoles. The Berg Balance Scale, Timed Up-and-Go Test, Six-Minute Walk Test, and Gross Motor Function Measure-88 were used to assess balance as well as the determination of oscillations from the center of pressure in the anteroposterior and mediolateral directions with eyes open and closed. Three evaluations were carried out: 1) immediately following placement of the insoles; 2) after three months of insole use; and 3) one month after suspending insole use. RESULTS: The EG achieved significantly better results in comparison to the CG on the Timed Up-and-Go Test as well as body sway in the anteroposterior and mediolateral directions. CONCLUSION: Postural insoles led to an improvement in static balance among children with cerebral palsy, as demonstrated by the reduction in body sway in the anteroposterior and mediolateral directions. Postural insole use also led to a better performance on the Timed Up-and-Go Test. PMID:25651134

  13. Principles of Bobath neuro-developmental therapy in cerebral palsy.

    PubMed

    Klimont, L

    2001-01-01

    The purpose of this article is to present the basics of Bobath Neurodevelopment Therapy (NDT) for the rehabilitation of patients with cerebral palsy, based on the fundamentals of neurophysiology.
    Two factors are continually stressed in therapy: first, postural tension, whose quality provides the foundation for the development of motor coordination, both normal and pathological, and plays a role in shaping the mechanism of the normal postural reflex; and secondly, the impact of damage to the central nervous system on the process of its growth and development.
    The practical application of the theoretical assumptions includes the use of inhibition, facilitation, and stimulation by key points of control, preparatory to evoking more nearly normal motor responses.

  14. Botulinum Toxin Treatment for Limb Spasticity in Childhood Cerebral Palsy

    PubMed Central

    Pavone, Vito; Testa, Gianluca; Restivo, Domenico A.; Cannavò, Luca; Condorelli, Giuseppe; Portinaro, Nicola M.; Sessa, Giuseppe

    2016-01-01

    CP is the most common cause of chronic disability in childhood occurring in 2–2.5/1000 births. It is a severe disorder and a significant number of patients present cognitive delay and difficulty in walking. The use of botulinum toxin (BTX) has become a popular treatment for CP especially for spastic and dystonic muscles while avoiding deformity and pain. Moreover, the combination of physiotherapy, casting, orthotics and injection of BTX may delay or decrease the need for surgical intervention while reserving single-event, multi-level surgery for fixed musculotendinous contractures and bony deformities in older children. This report highlights the utility of BTX in the treatment of cerebral palsy in children. We include techniques for administration, side effects, and possible resistance as well as specific use in the upper and lower limbs muscles. PMID:26924985

  15. A network approach to diagnostic biomarkers in progressive supranuclear palsy.

    PubMed

    Santiago, Jose A; Potashkin, Judith A

    2014-04-01

    Diagnosis of progressive supranuclear palsy (PSP) remains challenging because of the clinical overlap with Parkinson's disease (PD). To date, disease-specific biomarkers have yet to be identified. In the absence of reliable biomarkers, we used an integrated network approach to identify genes and related biological pathways associated with PSP. We tested a highly ranked gene in cellular whole-blood samples from 122 patients enrolled in the Prognostic Biomarker Study. Biological and functional analysis identified 13 modules related to activation of leukocytes and lymphocytes, protein dephosphorylation, and phosphatase activity. Integration of these results with those from microarrays identified ptpn1 as a potential biomarker for PSP. Assessment of biomarker performance revealed that ptpn1 could be used to distinguish PSP patients from PD patients with 86% diagnostic accuracy. Ptpn1 may be a diagnostic marker useful for distinguishing PSP and PD. Further evaluation in a larger well-characterized prospective study is warranted.

  16. Progressive parkinsonism, balance difficulties, and supranuclear gaze palsy.

    PubMed

    Erro, Roberto; Lees, Andrew J; Moccia, Marcello; Picillo, Marina; Penco, Silvana; Mosca, Lorena; Vitale, Carmine; Barone, Paolo

    2014-01-01

    A 76-year-old man presented with a 4-year history of a progressive parkinsonian syndrome. It started with slowness of gait and mood dysfunction. Symptoms slowly progressed and further included occasional unexplained falls. On examination, he showed a severe parkinsonian syndrome featuring bradykinesia, rigidity (axial > appendicular), and positive pull-test finding. Moreover, there was an upgaze supranuclear palsy and slow saccades on vertical plane. Magnetic resonance imaging was performed that revealed significant basal ganglia lesions and white matter hyperintensities, including periventricular regions and both frontal and temporal subcortical areas, along with moderate widespread atrophy and ventricular enlargement. Here, we reveal the pathological diagnosis and discuss the approach to the clinical data.

  17. Modulation of parkinsonian tremor by radial nerve palsy.

    PubMed

    Pullman, S L; Elibol, B; Fahn, S

    1994-10-01

    We analyzed rest and postural hand tremors in a Parkinson's disease patient who developed and recovered from a right radial nerve palsy at the spiral groove, and found that, despite complete paralysis of all extensors below the elbow, tremor frequencies remained unchanged while tremor amplitudes actually increased. This provides compelling evidence for a central generation of parkinsonian tremor frequency that is not influenced by the effects of peripheral modulation. In addition, the increase in tremor amplitudes may be due to disinhibited flexor activity caused by normally operating spinal segmental mechanisms interacting with central tremor generators programmed to alternate between antagonist muscles. Peripheral treatment of tremors--with muscle paralysis or botulinum toxin, for example--therefore may not be effective in stopping tremor oscillations in Parkinson's disease and may even worsen tremor amplitudes if all antagonists of a tremoring joint are not treated equally.

  18. [Infection by Toxoplasma gondii in children with infantile cerebral palsy].

    PubMed

    Tay, J; Gutiérrez Quiroz, M; Fernández Presas, A M; Romero Cabello, R; Ruiz González, L; Martínez Barbabosa, I

    1997-01-01

    An analytic relationship between positivity of the indirect immunofluorescent test (IIFT) for toxoplasmosis and clinical findings in a population of 328 children with cerebral infantile palsy (CIP) was performed. Children were distributed by age in one of four groups: I (0-2 years); II (3-6 years); III (7-12 years) and IV (13-18 years). One control group of 168 children with no PCI clinical findings was included. 125 sera were positive at 1:64 dilutions. The study of the binomial mother-child of 40 cases rendered 26 mothers with significant titer values. The majority of positive mothers to IIFT correlated with the youngest children (Groups I, II and III), mainly with group I (70.0%), which showed the highest titer ranges. Correlation between positive IIFT and clinical features was as high as 100.0%.

  19. The Role of Prematurity in Patients With Hemiplegic Cerebral Palsy.

    PubMed

    Zelnik, Nathanel; Lahat, Eli; Heyman, Eli; Livne, Amir; Schertz, Mitchell; Sagie, Liora; Fattal-Valevski, Aviva

    2016-05-01

    A multicenter retrospective study was conducted to investigate the perinatal factors, imaging findings and clinical characteristics of hemiplegic cerebral palsy with a particular focus on children born prematurely. Our cohort included 135 patients of whom 42% were born prematurely; 16% were extreme premature infants who were born at 30 weeks or earlier. Nineteen (14%) were twins. Right hemiplegia was slightly more common and accounted for 59% of the patients. Imaging findings of intraventricular hemorrhage and periventricular leukomalacia were more prevalent in premature children whereas stroke, porencephaly, cerebral hemorrhage and cerebral atrophy were more evenly distributed in both term-born and prematurely-born children (p< 0.01). The overall prevalence of epilepsy in the cohort was 26% with no differences in full-term compared to prematurely-born children. Regardless of the gestational birth age, intellectual deficits were more common in the presence of comorbidity of both hemiplegia and epilepsy (p< 0.05).

  20. Exercise and Physical Activity Recommendations for People with Cerebral Palsy

    PubMed Central

    Peterson, Mark D.; Balemans, Astrid C.J.; Hurvitz, Edward A.

    2016-01-01

    Physical activity (PA) and its promotion, as well as the avoidance of sedentary behaviour play important roles in health promotion and prevention of lifestyle-related diseases. Guidelines for typically developing youth and adults published by the World Health Organization and American College of Sports Medicine are available. However, detailed recommendations for PA and sedentary behaviour have not been established for children, adolescents and adults with cerebral palsy (CP). This paper presents the first CP-specific PA and exercise recommendations. The recommendations are based on (1) a comprehensive review and analysis of the literature, (2) expert opinion and (3) extensive clinical experience. The evidence supporting these recommendations are based on randomized controlled trials and observational studies involving children, adolescents and adults with CP, and buttressed by the previous guidelines for the general population. These recommendations may be used to guide healthcare providers on exercise and daily PA prescription for individuals with CP. PMID:26853808

  1. Functional Connectivity Modulation by Acupuncture in Patients with Bell's Palsy

    PubMed Central

    He, Xiaoxuan; Hu, Sheng; Li, Chuanfu; Xu, Chunsheng; Kan, Hongxing; Xue, Qiuju; Qiu, Bensheng

    2016-01-01

    Bell's palsy (BP), an acute unilateral facial paralysis, is frequently treated with acupuncture in many countries. However, the mechanism of treatment is not clear so far. In order to explore the potential mechanism, 22 healthy volunteers and 17 BP patients with different clinical duration were recruited. The resting-state functional magnetic resonance imaging scans were conducted before and after acupuncture at LI4 (Hegu), respectively. By comparing BP-induced functional connectivity (FC) changes with acupuncture-induced FC changes in the patients, the abnormal increased FC that could be reduced by acupuncture was selected. The FC strength of the selected FC at various stages was analyzed subsequently. Our results show that FC modulation of acupuncture is specific and consistent with the tendency of recovery. Therefore, we propose that FC modulation by acupuncture may be beneficial to recovery from the disease. PMID:27293461

  2. Rehabilitation of Bell's palsy patient with complete dentures

    PubMed Central

    Muthuvignesh, J.; Kumar, N. Suman; Reddy, D. Narayana; Rathinavelu, Pradeep; Egammai, S.; Adarsh, A.

    2015-01-01

    Facial nerve disorders may be of sudden onset and more often of unknown etiology. Edema of the facial nerve within the fallopian canal results in Bell's palsy. This causes compression of the nerve and affects the microcirculation. Many authors have suggested treatment for facial nerve paralysis ranging from simple physiotherapy to complicated microvascular decompression. It more often results in symptoms like synkinesis and muscle spasm after the decompression surgery of the nerve because of the inability to arrange the nerve fibers within the canal. The treatment choice also depends on patient's age, extent of the nerve damage, and patient's needs and desires. Many patients who cannot be rehabilitated functionally can be treated for esthetics of the involved muscles. This case report elaborates about a patient who was rehabilitated for esthetics and to some extent for function. PMID:26538967

  3. Intrathecal baclofen use in adults with cerebral palsy.

    PubMed

    Krach, Linda E

    2009-10-01

    Intrathecal baclofen (ITB) is an effective treatment for both spasticity and dystonia in people with cerebral palsy (CP). Its use is becoming increasingly common. ITB is typically associated with fewer side effects than the oral form of the product, but there are risks related to the hardware needed for intrathecal delivery. Much of what has been reported in the literature about ITB is based on experience with children or groups of children and adults; few reports exclusively address its use in adults with CP. These reports indicate that muscle tone is consistently reduced, but there is some variability in functional outcomes. Few well-controlled studies have been done. Controversies remain concerning ITB, including whether a trial is needed before pump implantation, proper catheter tip placement, and programming options, as well as whether it contributes to the development or progression of scoliosis. These and other unanswered questions should be addressed in a systematic way.

  4. Gastrostomy feeding in cerebral palsy: a systematic review

    PubMed Central

    Sleigh, G; Brocklehurst, P

    2004-01-01

    Aims: To determine benefits and risks for gastrostomy or jejunostomy feeding compared with oral feeding for children with cerebral palsy. Methods: Systematic review. Search strategy: electronic databases—Cochrane Library, Medline, Embase, Cinahl, Lilacs, databases of theses, grey literature. Included: relevant systematic reviews, randomised controlled trials, observational studies, case reports. Excluded: non-systematic reviews and qualitative research. Participants: children with cerebral palsy. Intervention: use of gastrostomy or jejunostomy tube to provide nutrition. Outcome: evaluated outcome measures included death, growth, gastro-oesophageal reflux, other complications, psychosocial aspects, and caregiver wellbeing. Results: No relevant systematic reviews or randomised controlled trials were found. Two cohort studies, 15 case series, and eight case reports met the inclusion criteria. Eight studies specifically described percutaneous endoscopic gastrostomy as the intervention. Weight gain resulted from gastrostomy feeding in most cases. There was an approximately fourfold increased risk of death reported in one cohort study for the gastrostomy fed children. Many complications were reported, including potential for increased gastro-oesophageal reflux and fluid aspiration into the lungs. Conclusions: Benefits associated with gastrostomy or jejunostomy feeding are difficult to assess from the available evidence. Risks of gastrostomy, particularly in relation to surgical complications, have been described but the size of the risk could not be quantified. The finding of a higher death rate for children fed by gastrostomy may merely reflect the greater disability of these compared with orally fed children. Lack of available evidence and the substantial risk of bias in observational studies suggests that a well conducted randomised controlled trial of sufficient size will be needed to answer these problems. PMID:15155398

  5. CoQ10 in progressive supranuclear palsy

    PubMed Central

    Scala, Stephanie A.; Hamill, Robert W.; Simon, David K.; Pathak, Subash; Ruthazer, Robin; Standaert, David G.; Yacoubian, Talene A.

    2016-01-01

    Objective: An investigator-initiated, multicenter, randomized, placebo-controlled, double-blind clinical trial to determine whether coenzyme Q10 (CoQ10) is safe, well tolerated, and effective in slowing functional decline in progressive supranuclear palsy (PSP). Methods: Sixty-one participants received CoQ10 (2,400 mg/d) or placebo for up to 12 months. Progressive Supranuclear Palsy Rating Scale (PSPRS), Unified Parkinson's Disease Rating Scale, activities of daily living, Mini-Mental State Examination, the 39-item Parkinson's Disease Questionnaire, and 36-item Short Form Health Survey were monitored at baseline and months 3, 6, 9, and 12. The safety profile of CoQ10 was determined by adverse events, vital signs, and clinical laboratory values. Primary outcome measures were changes in PSPRS and Unified Parkinson's Disease Rating Scale scores from baseline to month 12. Results: CoQ10 was well tolerated. No statistically significant differences were noted between CoQ10 and placebo groups in primary or secondary outcome measures. A nonsignificant difference toward slower clinical decline in the CoQ10 group was observed in total PSPRS among those participants who completed the trial. Before the final study visit at 12 months, 41% of participants withdrew because of travel distance, lack of perceived benefit, comorbidities, or caregiver issues. Conclusions: High doses of CoQ10 did not significantly improve PSP symptoms or disease progression. The high withdrawal rate emphasizes the difficulty of conducting clinical trials in patients with PSP. ClinicalTrials.gov identifier: NCT00382824. Classification of evidence: This study provides Class II evidence that CoQ10 does not significantly slow functional decline in PSP. The study lacks the precision to exclude a moderate benefit of CoQ10. PMID:27583276

  6. Genu recurvatum in cerebral palsy--part B: hamstrings are abnormally long in children with cerebral palsy showing knee recurvatum.

    PubMed

    Zwick, Ernst B; Svehlík, Martin; Steinwender, Gerhard; Saraph, Vinay; Linhart, Wolfgang E

    2010-07-01

    Hyperextension of the knee in stance (knee recurvatum) is a common disorder in patients with spastic cerebral palsy (CP). A group 35 children with CP (47 lower limbs) was divided into two subgroups according to the timing of maximum knee extension during the stance phase of gait. Gait analysis and musculoskeletal modelling data were compared with a control group of 12 normally developing children. We observed no difference in kinematics between the CP groups who showed an equinus position of the foot at initial contact. Both groups showed increased external extensor moments across the knee. The muscle-tendon lengths of the hamstrings were abnormally long at initial contact, and in both recurvatum groups, contracted faster compared with the control group. Surface electromyography revealed prolonged activity of the hamstrings in stance and early activation in swing. Abnormally long hamstrings at initial contact together with equinus position of the foot are the main causes of genu recurvatum in children with CP.

  7. Ageing with cerebral palsy; what are the health experiences of adults with cerebral palsy? A qualitative study

    PubMed Central

    Mudge, Suzie; Rosie, Juliet; Stott, Susan; Taylor, Denise; Signal, Nada; McPherson, Kathryn

    2016-01-01

    Objective To enhance understanding of the experiences of ageing with cerebral palsy (CP) in adulthood with a particular focus on experiences with health services. Design A qualitative descriptive methodology was applied to capture adults' views of ageing with CP and related interactions with health services. Semistructured interviews were undertaken with data systematically coded and interpreted by grouping information into categories. Themes that encompassed the categories were identified through thematic analysis. Setting All healthcare settings. Participants 28 adults (14 women) with CP, aged 37–70 years. Results 5 themes covered the breadth of participants' experiences: (1) acceptance of change; (2) exploring identity: cerebral palsy as only one part of self; (3) taking charge of help; (4) rethinking the future and (5) interacting with health professionals. Being seen and being heard were the features described in positive healthcare interactions. Participants also valued health professionals who reflected on who holds the knowledge?; demonstrated a willingness to learn and respected participants' knowledge and experience. Conclusions Our findings could, and arguably should, inform more responsive strategies for disabled people in health services and, indeed, all health consumers. Our study supports other findings that impairments related to CP change and, for many, severity of disabling impact increases with age. Increased interactions with health and rehabilitation professionals, as a consequence of these changes, have the potential to impact the person's healthcare experience either positively or negatively. A ‘listening health professional’ may bridge their knowledge gap and, in recognising the person's own expertise, may achieve three things: a more contextualised healthcare intervention; a better healthcare experience for the person with CP and positive impact on the person's sense of autonomy and identity by recognising their expertise. Future

  8. Effect of a single session of transcranial direct-current stimulation combined with virtual reality training on the balance of children with cerebral palsy: a randomized, controlled, double-blind trial.

    PubMed

    Lazzari, Roberta Delasta; Politti, Fabiano; Santos, Cibele Alimedia; Dumont, Arislander Jonathan Lopes; Rezende, Fernanda Lobo; Grecco, Luanda André Collange; Braun Ferreira, Luiz Alfredo; Oliveira, Claudia Santos

    2015-03-01

    [Purpose] The aim of the present study was to investigate the effects of a single session of transcranial direct current stimulation combined with virtual reality training on the balance of children with cerebral palsy. [Subjetcs and Methods] Children with cerebral palsy between four and 12 years of age were randomly allocated to two groups: an experimental group which performed a single session of mobility training with virtual reality combined with active transcranial direct current stimulation; and a control group which performed a single session of mobility training with virtual reality combined with placebo transcranial direct current stimulation. The children were evaluated before and after the training protocols. Static balance (sway area, displacement, velocity and frequency of oscillations of the center of pressure on the anteroposterior and mediolateral axes) was evaluated using a force plate under four conditions (30-second measurements for each condition): feet on the force plate with the eyes open, and with the eyes closed; feet on a foam mat with the eyes open, and with the eyes closed. [Results] An increase in sway velocity was the only significant difference found. [Conclusion] A single session of anodal transcranial direct current stimulation combined with mobility training elicited to lead to an increase in the body sway velocity of children with cerebral palsy.

  9. Effect of a single session of transcranial direct-current stimulation combined with virtual reality training on the balance of children with cerebral palsy: a randomized, controlled, double-blind trial

    PubMed Central

    Lazzari, Roberta Delasta; Politti, Fabiano; Santos, Cibele Alimedia; Dumont, Arislander Jonathan Lopes; Rezende, Fernanda Lobo; Grecco, Luanda André Collange; Braun Ferreira, Luiz Alfredo; Oliveira, Claudia Santos

    2015-01-01

    [Purpose] The aim of the present study was to investigate the effects of a single session of transcranial direct current stimulation combined with virtual reality training on the balance of children with cerebral palsy. [Subjetcs and Methods] Children with cerebral palsy between four and 12 years of age were randomly allocated to two groups: an experimental group which performed a single session of mobility training with virtual reality combined with active transcranial direct current stimulation; and a control group which performed a single session of mobility training with virtual reality combined with placebo transcranial direct current stimulation. The children were evaluated before and after the training protocols. Static balance (sway area, displacement, velocity and frequency of oscillations of the center of pressure on the anteroposterior and mediolateral axes) was evaluated using a force plate under four conditions (30-second measurements for each condition): feet on the force plate with the eyes open, and with the eyes closed; feet on a foam mat with the eyes open, and with the eyes closed. [Results] An increase in sway velocity was the only significant difference found. [Conclusion] A single session of anodal transcranial direct current stimulation combined with mobility training elicited to lead to an increase in the body sway velocity of children with cerebral palsy. PMID:25931726

  10. Why is there a modifying effect of gestational age on risk factors for cerebral palsy?

    PubMed Central

    Greenwood, C; Yudkin, P; Sellers, S; Impey, L; Doyle, P

    2005-01-01

    Objective: To investigate risk factors for cerebral palsy in relation to gestational age. Design: Three case-control studies within a geographically defined cohort. Setting: The former Oxfordshire Health Authority. Participants: A total of 235 singleton children with cerebral palsy not of postnatal origin, born between 1984 and 1993, identified from the Oxford Register of Early Childhood Impairment; 646 controls matched for gestation in three bands: ⩽32 weeks; 33–36 weeks; ⩾37 weeks. Results: Markers of intrapartum hypoxia and infection were associated with an increased risk of cerebral palsy in term and preterm infants. The odds ratio (OR) for hypoxia was 12.2 (95% confidence interval 1.2 to 119) at ⩽32 weeks and 146 (7.4 to 3651) at ⩾37 weeks. Corresponding ORs for neonatal sepsis were 3.1 (1.8 to 5.4) and 10.6 (2.1 to 51.9). In contrast, pre-eclampsia carried an increased risk of cerebral palsy at ⩾37 weeks (OR 5.1 (2.2 to 12.0)) but a decreased risk at ⩽32 weeks (OR 0.4 (0.2 to 1.0)). However, all infants ⩽32 weeks with maternal pre-eclampsia were delivered electively, and their risk of cerebral palsy was no lower than that of other electively delivered ⩽32 week infants (OR 0.9 (0.3 to 2.7)). Nearly 60% of ⩽32 week controls were delivered after spontaneous preterm labour, itself an abnormal event. Conclusion: Inflammatory processes, including pre-eclampsia, are important in the aetiology of cerebral palsy. The apparent reduced risk of cerebral palsy associated with pre-eclampsia in very preterm infants is driven by the characteristics of the gestation matched control group. Use of the term "protective" in this context should be abandoned. PMID:15724038

  11. Distinctive abnormalities of facial reflexes in patients with progressive supranuclear palsy.

    PubMed

    Valls-Solé, J; Valldeoriola, F; Tolosa, E; Marti, M J

    1997-10-01

    Spontaneous and voluntary eyelid motility is often abnormal in patients with progressive supranuclear palsy. In contrast, their eyelid reflex responses are relatively preserved, and only those generated by an acoustic startle have been found absent or severely reduced. We hypothesized that, because of their relevant brainstem pathology, patients with progressive supranuclear palsy might have other brainstem reflex abnormalities which, on detection, could help with their neurophysiological characterization. In this study, we examined facial reflex responses in 14 patients with progressive supranuclear palsy, 12 patients with multisystem atrophy, 10 patients with Parkinson's disease, six patients with corticobasal ganglionic degeneration, 11 patients with various non-parkinsonian neurological illnesses and 10 normal subjects. EMG activity was simultaneously recorded from the orbicularis oculi and mentalis muscles following electrical stimulation of the median nerve at the wrist. Mentalis responses were obtained in two normal subjects and in all patients except one with Parkinson's disease, one with progressive supranuclear palsy and one with corticobasal ganglionic degeneration; there were no differences between groups of subjects regarding latency or peak amplitude. Orbicularis oculi responses were always present in control subjects and patients who exhibited mentalis responses, with the significant exception of patients with progressive supranuclear palsy, in whom only the response of mentalis was obtained. Blink-reflex responses to supraorbital nerve electrical stimuli were present at a normal latency and amplitude in all patients. An abnormally enhanced blink-reflex excitability recovery curve to paired stimuli was found in a similar percentage of patients with progressive supranuclear palsy, multisystem atrophy and Parkinson's disease, but in only two patients with corticobasal ganglionic degeneration. Patients with progressive supranuclear palsy have a

  12. Increased risk of cancer after Bell's palsy: a 5-year follow-up study.

    PubMed

    Sheu, Jau-Jiuan; Keller, Joseph J; Lin, Herng-Ching

    2012-11-01

    Reactivation of latent herpes simplex virus (HSV) type I or varicella-zoster virus (VZV) has been recognized as the most common pathomechanism underlying Bell's palsy. There is also increased reactivation of HSV or VZV in patients with immunosuppressed states and in cancer patients. The purpose of this study was to investigate the risk for cancer during a 5-year follow-up period after diagnosis of Bell's palsy by using a population-based dataset in Taiwan. We used data from the "Longitudinal Health Insurance Database". We identified 2,618 patients with Bell's palsy as the study cohort and randomly selected 13,090 patients to be used as a comparison cohort. Cox proportional hazards regression was performed to compare the 5-year risk of subsequent cancer between the study and comparison cohorts. We found that the incidence of cancer was 1.55 (95 % CI 1.35-1.78) per 100 person-years for patients with Bell's palsy and 1.09 (95 % CI 1.02-1.18) per 100 person-years for comparison patients. After censoring cases that died from non-cancer causes during the follow-up period and adjusting for urbanization, monthly income, geographic region, and diabetes, the hazard ratio (HR) for cancer during the 5-year follow-up period for patients with Bell's palsy was 1.43 times that for comparison patients (95 % CI 1.22-1.73). There was a particularly increased risk of oral cancer (HR = 2.49; 95 % CI 1.54-4.03) for patients with Bell's palsy compared with the other patients. We conclude that patients with Bell's palsy were at significant risk of cancer during a 5-year follow-up period after diagnosis.

  13. Motor vehicle crashes during pregnancy and cerebral palsy during infancy: a longitudinal cohort analysis

    PubMed Central

    Redelmeier, Donald A; Naqib, Faisal; Thiruchelvam, Deva; R Barrett, Jon F

    2016-01-01

    Objectives To assess the incidence of cerebral palsy among children born to mothers who had their pregnancy complicated by a motor vehicle crash. Design Retrospective longitudinal cohort analysis of children born from 1 April 2002 to 31 March 2012 in Ontario, Canada. Participants Cases defined as pregnancies complicated by a motor vehicle crash and controls as remaining pregnancies with no crash. Main outcome Subsequent diagnosis of cerebral palsy by age 3 years. Results A total of 1 325 660 newborns were analysed, of whom 7933 were involved in a motor vehicle crash during pregnancy. A total of 2328 were subsequently diagnosed with cerebral palsy, equal to an absolute risk of 1.8 per 1000 newborns. For the entire cohort, motor vehicle crashes correlated with a 29% increased risk of subsequent cerebral palsy that was not statistically significant (95% CI −16 to +110, p=0.274). The increased risk was only significant for those with preterm birth who showed an 89% increased risk of subsequent cerebral palsy associated with a motor vehicle crash (95% CI +7 to +266, p=0.037). No significant increase was apparent for those with a term delivery (95% CI −62 to +79, p=0.510). A propensity score-matched analysis of preterm births (n=4384) yielded a 138% increased relative risk of cerebral palsy associated with a motor vehicle crash (95% CI +27 to +349, p=0.007), equal to an absolute increase of about 10.9 additional cases per 1000 newborns (18.2 vs 7.3, p=0.010). Conclusions Motor vehicle crashes during pregnancy may be associated with an increased risk of cerebral palsy among the subgroup of cases with preterm birth. The increase highlights a specific role for traffic safety advice in prenatal care. PMID:27650764

  14. C5 Nerve root palsies following cervical spine surgery: A review

    PubMed Central

    Epstein, Nancy E.; Hollingsworth, Renee

    2015-01-01

    Background: Cervical C5 nerve root palsies may occur in between 0% and 30% of routine anterior or posterior cervical spine operations. They are largely attributed to traction injuries/increased cord migration following anterior/posterior decompressions. Of interest, almost all studies cite spontaneous resolution of these deficits without surgery with 3–24 postoperative months. Methods: Different studies cite various frequencies for C5 root palsies following anterior or posterior cervical spine surgery. In their combined anterior/posterior series involving C4-C5 level decompressions, Libelski et al. cited up to a 12% incidence of C5 palsies. In Gu et al. series, C5 root palsies occurred in 3.1% of double-door laminoplasty, 4.5% of open-door laminoplasty, and 11.3% of laminectomy. Miller et al. observed an intermediate 6.9% frequency of C5 palsies followed by posterior cervical decompressions and fusions (PCDF). Results: Gu et al. also identified multiple risk factors for developing C5 palsies following posterior surgery; male gender, ossification of the posterior longitudinal ligament (OPLL), narrower foramina, laminectomy, and marked dorsal spinal cord drift. Miller et al. also identified an average $1918 increased cost for physical/occupational therapy for patients with C5 palsies. Conclusions: The incidence of C5 root deficits for anterior/posterior cervical surgery at C4-C5 was 12% in one series, and ranged up to 11.3% for laminectomies, while others cited 0–30%. Although identification of preoperative risk factors for C5 root deficits may help educate patients regarding these risks, there is no clear method for their avoidance at this time. PMID:26005577

  15. Detection of third and sixth cranial nerve palsies with a novel method for eye tracking while watching a short film clip

    PubMed Central

    Samadani, Uzma; Farooq, Sameer; Ritlop, Robert; Warren, Floyd; Reyes, Marleen; Lamm, Elizabeth; Alex, Anastasia; Nehrbass, Elena; Kolecki, Radek; Jureller, Michael; Schneider, Julia; Chen, Agnes; Shi, Chen; Mendhiratta, Neil; Huang, Jason H.; Qian, Meng; Kwak, Roy; Mikheev, Artem; Rusinek, Henry; George, Ajax; Fergus, Robert; Kondziolka, Douglas; Huang, Paul P.; Smith, R. Theodore

    2015-01-01

    patients with known CN III palsy had significantly decreased ratios of 0.19 and 0.06, respectively. Three patients with surgically treatable pathological conditions impacting CN VI, such as infratentorial mass effect or hydrocephalus, had significantly increased ratios (1.84, 1.44, and 1.34, respectively) relative to normal controls, and 6 patients with supratentorial mass effect had significantly decreased ratios (0.27, 0.53, 0.62, 0.45, 0.49, and 0.41, respectively). These alterations in eye tracking all reverted to normal ranges after surgical treatment of underlying pathological conditions in these 9 neurosurgical cases. CONCLUSIONS This proof of concept series of cases suggests that the use of eye tracking to detect CN palsy while the patient watches television or its equivalent represents a new capacity for this technology. It may provide a new tool for the assessment of multiple CNS functions that can potentially be useful in the assessment of awake patients with elevated intracranial pressure from hydrocephalus or trauma. PMID:25495739

  16. Do children with cerebral palsy change their gait when walking over uneven ground?

    PubMed

    Malone, Ailish; Kiernan, Damien; French, Helen; Saunders, Valerie; O'Brien, Timothy

    2015-02-01

    Independently ambulant children with Cerebral Palsy (CP) often report balance difficulties when walking in challenging settings. The aim of this study was to compare gait in children with CP to typically developing (TD) children walking over level ground and uneven ground, as an evaluation of dynamic balance. Thirty-four children participated, 17 with CP (10 hemiplegia and 7 diplegia, mean age 10 years) and 17 TD (mean age 10 years 1 month). Three-dimensional kinematic and kinetic data of the lower limbs and trunk were captured during walking over level and uneven ground using Codamotion®. Statistical analysis was performed using a mixed-effects model two-factor Analysis of Variance (Group×Surface). Over both surfaces, children with CP showed increased trunk movement in the sagittal (Group effect, p<0.001) and transverse planes (p<0.001), and increased pelvic movement in the coronal plane (p=0.008), indicating impaired trunk control. Peak separation between the centre of mass and centre of pressure was reduced in CP, indicating impaired dynamic balance (p=0.027). TD children made a number of significant adaptations to uneven ground, including reduced hip extension (mean difference 3.4°, 95% CI [-5.3, -1.0] p=0.006), and reduced ankle movement in the sagittal (5.2°, 95% CI [0.01, 10] p=0.049) and coronal planes (2.4°, 95% CI [0.3, 4.5], p=0.029), but these adaptations were not measured in CP. A significant Group×Surface interaction was detected for knee sagittal range (p=0.009). The findings indicate that children with CP walk show impaired control of trunk movement and are less able to adapt their gait to uneven ground, particularly at the ankle.

  17. Leg and Joint Stiffness in Children with Spastic Diplegic Cerebral Palsy during Level Walking

    PubMed Central

    Wang, Ting-Ming; Huang, Hsing-Po; Li, Jia-Da; Hong, Shih-Wun; Lo, Wei-Ching; Lu, Tung-Wu

    2015-01-01

    Individual joint deviations are often identified in the analysis of cerebral palsy (CP) gait. However, knowledge is limited as to how these deviations affect the control of the locomotor system as a whole when striving to meet the demands of walking. The current study aimed to bridge the gap by describing the control of the locomotor system in children with diplegic CP in terms of their leg stiffness, both skeletal and muscular components, and associated joint stiffness during gait. Twelve children with spastic diplegia CP and 12 healthy controls walked at a self-selected pace in a gait laboratory while their kinematic and forceplate data were measured and analyzed during loading response, mid-stance, terminal stance and pre-swing. For calculating the leg stiffness, each of the lower limbs was modeled as a non-linear spring, connecting the hip joint center and the corresponding center of pressure, with varying stiffness that was calculated as the slope (gradient) of the axial force vs. the deformation curve. The leg stiffness was further decomposed into skeletal and muscular components considering the alignment of the lower limb. The ankle, knee and hip of the limb were modeled as revolute joints with torsional springs whose stiffness was calculated as the slope of the moment vs. the angle curve of the joint. Independent t-tests were performed for between-group comparisons of all the variables. The CP group significantly decreased the leg stiffness but increased the joint stiffness during stance phase, except during terminal stance where the leg stiffness was increased. They appeared to rely more on muscular contributions to achieve the required leg stiffness, increasing the muscular demands in maintaining the body posture against collapse. Leg stiffness plays a critical role in modulating the kinematics and kinetics of the locomotor system during gait in the diplegic CP. PMID:26629700

  18. Impaired visually guided weight-shifting ability in children with cerebral palsy.

    PubMed

    Ballaz, Laurent; Robert, Maxime; Parent, Audrey; Prince, François; Lemay, Martin

    2014-09-01

    The ability to control voluntary weight shifting is crucial in many functional tasks. To our knowledge, weight shifting ability in response to a visual stimulus has never been evaluated in children with cerebral palsy (CP). The aim of the study was (1) to propose a new method to assess visually guided medio-lateral (M/L) weight shifting ability and (2) to compare weight-shifting ability in children with CP and typically developing (TD) children. Ten children with spastic diplegic CP (Gross Motor Function Classification System level I and II; age 7-12 years) and 10 TD age-matched children were tested. Participants played with the skiing game on the Wii Fit game console. Center of pressure (COP) displacements, trunk and lower-limb movements were recorded during the last virtual slalom. Maximal isometric lower limb strength and postural control during quiet standing were also assessed. Lower-limb muscle strength was reduced in children with CP compared to TD children and postural control during quiet standing was impaired in children with CP. As expected, the skiing game mainly resulted in M/L COP displacements. Children with CP showed lower M/L COP range and velocity as compared to TD children but larger trunk movements. Trunk and lower extremity movements were less in phase in children with CP compared to TD children. Commercially available active video games can be used to assess visually guided weight shifting ability. Children with spastic diplegic CP showed impaired visually guided weight shifting which can be explained by non-optimal coordination of postural movement and reduced muscular strength.

  19. Pressure Sores

    MedlinePlus

    Pressure sores are areas of damaged skin caused by staying in one position for too long. They ... wheelchair, or are unable to change your position. Pressure sores can cause serious infections, some of which ...

  20. Effect of Cardiorespiratory Training on Aerobic Fitness and Carryover to Activity In Children with Cerebral Palsy: A Systematic Review

    ERIC Educational Resources Information Center

    Butler, Jane M.; Scianni, Aline; Ada, Louise

    2010-01-01

    The question under consideration was does cardiorespiratory training improve aerobic fitness in children with cerebral palsy and is there any carryover into activity? The study design consisted of a systematic review of randomized trials using the Cochrane Collaboration guidelines. Participants were children of school age with cerebral palsy.…