... weakness of the heart muscle ( cardiomyopathy ) and abnormal transmission of signals that regulate the heartbeat ( conduction abnormalities ...

BackgroundIn many stroke patients arm function is limited, which can be related to an abnormal coupling between shoulder and elbow joints. The extent to which this can be translated to activities of daily life (ADL), in terms of muscle activation during ADL-like movements, is rather unknown. Therefore, the present study examined the occurrence of ...

... and walking. Fukuyama congenital muscular dystrophy also impairs brain development. People with this condition have a brain abnormality ... cobblestones). These changes in the structure of the brain lead to significantly delayed development of speech and motor skills and moderate to ...

The goals of this study were to investigate muscle fatigue in patients with multiple sclerosis (MS), and to determine the relationships between muscle fatigue, clinical status, and perceived fatigue. The fatigability of the anterior tibial muscle was quantitated in patients and controls during 9 min of intermittent stimulation (used to eliminate central sources of muscle fatigue). During exercise, ...

The most common muscular dystrophy, Duchenne muscular dystrophy (DMD), is an X-linked disorder that ordinarily has full clinical expression only in males. Reports of typical clinical features in females are rare but have occurred with a phenotypically identical autosomal recessive muscular dystrophy as well as in females with ...

The disintegration of the dystrophin-glycoprotein complex represents the initial pathobiochemical insult in Duchenne muscular dystrophy. However, secondary changes in signalling, energy metabolism and ion homeostasis are probably the main factors that eventually cause progressive muscle wasting. Thus, for the proper evaluation of novel therapeutic approaches, it is essential ...

The disintegration of the dystrophin-glycoprotein complex represents the initial pathobiochemical insult in Duchenne muscular dystrophy. However, secondary changes in signalling, energy metabolism and ion homeostasis are probably the main factors that eventually cause progressive muscle wasting. Thus, for the proper evaluation of novel therapeutic approaches, it is essential ...

FHL1, BAG3, MATR3 and PTRF are recently identified myopathy genes associated with phenotypes that overlap muscular dystrophy. TCAP is a rare reported cause of muscular dystrophy not routinely screened in most centres. We hypothesised that these genes may account for patients with undiagnosed forms of muscular dystrophy in Australia. We ...

Golden Retriever muscular dystrophy is an inherited, degenerative myopathy due to the absence of dystrophin and is used as a model of Duchenne muscular dystrophy of young boys. This report describes the radiographic abnormalities of Golden Retriever muscular dystrophy in 26 dogs. The thoracic ...

Several abnormalities in the central nervous system were shown in patients with progressive muscular dystrophy using computerised tomography (CT) scans, electroencephalograms, psychometry, and ophthalmological methods. In congenital muscular dystrophy, the most characteristic finding in the CT scan was a low density area in the white ...

Professional Call for an appointment with your health care provider if symptoms of this condition develop. Genetic counseling is recommended for couples with a family history of...

Duchenne muscular dystrophy (DMD) is an inherited myogenic disorder due to mutations in the dystrophin gene on chromosome Xp21.1. It is characterized by progressive muscle wasting and weakness of variable distribution and severity. Heart is involved leading to heart failure. Conduction abnormalities are unusual. We report a case of complete ...

by Stiffening of Plantar Muscular Tissue Under Excessive Bone Compression Amit Gefen and Eran Linder The abnormally elevated plantar pressures under the bony prominences of the diabetic foot (mainly under mechanical properties were incorporated in a finite element (FE) model of the plantar tissue under the second

Convulsions are a type of seizure caused by disorganized, abnormal electrical activity in the brain which results in repeated muscular contraction and uncontrolled body movements. Epilepsy is a chronic condition that is diagnosed when seizures occur repea...

In the present study, we investigated the contributions of motor and perceptual processes to directional constraints as observed during hand-foot coordination. Participants performed cyclical flexion-extension movements of the right hand and foot under two coordination modes: in-phase (isodirectional) and antiphase (non-isodirectional). Those tasks were performed either with full vision or no ...

Muscular dystrophies are a group of diseases that primarily affect striated muscle and are characterized by the progressive loss of muscle strength and integrity. Major forms of muscular dystrophies are caused by the abnormalities of the dystrophin glycoprotein complex (DGC) that plays crucial roles as a structural unit and scaffolds ...

Most research concerning the pathology of autism is focused on the search for central abnormalities that account for the production of symptoms. We, however, instead of looking at muscular and auditory features as merely associated manifestations, propose that they are somatic contributors by which some of the main clinical features of autism might be ...

There have been reports of abnormal retinal neurotransmission determined by electroretinography in boys with Duchenne and Becker muscular dystrophy. Dystrophin may play a role in transmitting signals between photoreceptors and the excitatory synapse of the ON-bipolar cell. These electroretinographic changes appeared to be limited to the rod ON-pathway but ...

Muscular dystrophy is a collective group of inherited, noninflammatory, progressive muscle wasting diseases. The initial pathologic feature is an abnormality in the genetic code for dystrophin or one of its associated glycoproteins, which leads to the various clinical syndromes. Despite minor variations between the different types, all ...

Dystrophic muscle shows increase in fibre density, abnormally low jitter in some recordings and more often increased jitter. The cross section of the motor unit has normal length. There are no signs of abnormal volume conduction characteristics. The increased fibre density is believed to be due to localised increase in the number of muscle action potential ...

A case is reported of a patient who presented with coital cephalgia, and in whom an obstructive lesion of the lower aorta was demonstrated. Bicycle ergometry evoked an abnormal pressor response. The condition was cured by restoration of normal circulation. An abnormal pressor response to treadmill exercise was shown to exist in subjects with intermittent ...

A case is reported of a patient who presented with coital cephalgia, and in whom an obstructive lesion of the lower aorta was demonstrated. Bicycle ergometry evoked an abnormal pressor response. The condition was cured by restoration of normal circulation. An abnormal pressor response to treadmill exercise was shown to exist in subjects with intermittent ...

Delayed hypersensitivity reactions appear to be important in the two main muscular human diseases involving autoimmune anomalies. Using the leucocyte migration test (LMT), a significant abnormality was detected in twelve out of fourteen polymyositis (PM) patients, and in forty out of forty-six myasthenics, in the presence of muscle antigens. No ...

There is the increasing concern of the society to prevent the tumbling of the aged. The study of the static, as well as dynamic aspects, such as the muscular strength of the lower-limb and the postural stability, should be developed, especially from the viewpoint of the aged. This paper focuses on the external observation of the foot and toenail, as being correlated to the ...

In cerebellar ataxia, kinematic aberrations of multijoint movements are thought to originate from deficiencies in generating muscular torques that are adequate to control the mechanical consequences of dynamic interaction forces. At this point the exact mechanisms that lead to an abnormal control of interaction torques are not known. In principle, the ...

Genetic muscular dystrophy is characterized by progressive muscular weakness and atrophy and necrosis of the skeletal muscle. In several aspects, the disease in genetically dystrophic mice is thought to resemble that in human beings. For a variety of species, dietary selenium deficiency can result in a state of nutritional muscular ...

SummaryFukuyama type congenital muscular dystrophy accompanies central nervous system and ocular lesions. Morphological findings suggest that major central nervous system lesions, such as cortical dysplasia, are caused by the abnormal glia limitans due to an impairment of astrocytes. Increase of corpora amylacea and neurofibrillary tangles suggests ...

In order to assess left ventricular function, measurements of left ventricular internal dimension and its rate of change have been made by echocardiography in 7 patients with myotonic dystrophy and the three children of one of them, who were clinically normal but had abnormal muscle biopsies. Electrocardiograms and systolic time intervals were also recorded in all. Only one ...

Muscular dystrophies are a large heterogeneous group of inherited diseases that cause progressive muscle weakness and permanent muscle damage. Very few muscular dystrophies show sufficient specific clinical features to allow a definite diagnosis. Because of the currently limited capacity to screen for numerous genes simultaneously, muscle biopsy is a time ...

Choline kinase in mice is encoded by two genes, Chka and Chkb. Disruption of murine Chka leads to embryonic lethality, whereas a spontaneously occurring genomic deletion in murine Chkb results in neonatal bone deformity and hindlimb muscular dystrophy. We have investigated the mechanism by which a lack of choline kinase beta, encoded by Chkb, causes hindlimb ...

The mechanism of muscular fatigue from physical work and exercise (high metabolism) is not clear, but involves disturbances of muscle surface membrane excitation-contraction coupling from changes in sarcoplasmic reticulum Ca2+ release, cell H+ and Pi resp...

Two cases of bifid ventricles and cardiac malformations in juvenile ball python (Python regius) were investigated by blood pressure measurements and macro- and microscopic sectioning. A study of a normal ball python was included for reference. In both cases, all cardiac chambers were enlarged and abnormally shaped. Internal assessment of the ventricles revealed a pronounced ...

SUMMARYDystroglycan, which serves as a major extracellular matrix receptor in muscle and the central nervous system, requires extensive O-glycosylation to function. We identified a dystroglycan missense mutation (Thr192?Met) in a woman with limb-girdle muscular dystrophy and cognitive impairment. A mouse model harboring this mutation recapitulates the immunohistochemical and ...

Myotonic muscular dystrophy (MyD) is a systemic genetic disorder that is thought to result from a generalized cellular membrane defect although the exact nature of this defect is unknown. This study examines two calcium-dependent membrane processes that have been observed in erythrocytes from healthy individuals: calcium-stimulated phosphatidic acid accumulation and ...

Females who fully manifest Duchenne muscular dystrophy (DMD), an X linked disorder, are extremely rare. Cytogenetic studies are indicated in such females to rule out an X chromosome abnormality, which could render a female hemizygous for X linked genes. At present there are six reports describing females with Duchenne muscular ...

We describe two Scottish siblings affected by a form of congenital muscular dystrophy characterised by a severe clinical phenotype, similar to that observed in the 6q-linked merosin-deficient CMD but in whom brain MRI and cognitive development were normal. The maximal function achieved in the 2 siblings was sitting independently. Serum CK were grossly elevated and the skin and ...

Abnormalities of dystrophin, a cytoskeletal protein of muscle and nerve, are generally considered specific for Duchenne and Becker muscular dystrophy. However, several patients have recently been identified with dystrophin deficiency who, before dystrophin testing, were considered to have Fukuyama congenital muscular dystrophy (FCMD) ...

Abnormalities of dystrophin, a cytoskeletal protein of muscle and nerve, are generally considered specific for Duchenne and Becker muscular dystrophy. However, several patients have recently been identified with dystrophin deficiency who, before dystrophin testing, were considered to have Fukuyama congenital muscular dystrophy (FCMD) ...

Limb-girdle Muscular Dystrophy; Duchenne Muscular Dystrophy; Becker Muscular Dystrophy; Facioscapulohumeral Muscular Dystrophy

The fungistatic agent diphenyl caused fatal poisoning with signs of neurotoxicity in a worker in a Finnish paper mill. This initiated a neurophysiological study of 24 workers occupationally exposed to diphenyl. Ten men showed EEG abnormalities, mainly diffuse or generalized ones. The abnormalities persisted on re-examination one and two years later. Nine ...

Nuclear lamins are components of the nuclear lamina, a structural scaffolding for the cell nucleus. Defects in lamins A and C cause an array of human diseases, including muscular dystrophy, lipodystrophy, and progeria, but no diseases have been linked to the loss of lamins B1 or B2. To explore the functional relevance of lamin B2, we generated lamin B2-deficient mice and found ...

The history, clinical presentation, and management of malignant hyperpyrexia are presented. The aetiology seems to be associated with some inherited abnormality which affects the movement and binding of calcium ions in the sarcoplasmic reticulum, sarcoplasm, and mitochondria. Whether this is a primary muscular defect or secondary to some trophic neural ...

Myotonic dystrophy type 1 (DM1) is an autosomal dominant disorder of muscular dystrophy characterized by muscle weakness and wasting. DM1 is caused by expansion of CTG repeats in the 3'-untranslated region (3'-UTR) of DM protein kinase (DMPK) gene. Since CUG-repeat RNA transcribed from the expansion of CTG repeats traps RNA-binding proteins that regulate alternative splicing, ...

A number of muscular dystrophies are associated with the defective glycosylation of [alpha]-dystroglycan and many are now known to result from mutations in a number of genes encoding putative or known glycosyltransferases. These diseases include severe forms of congenital muscular dystrophy (CMD) such as Fukuyama type congenital ...

Spinal muscular atrophy is distinct among neurodegenerative conditions of the motor neuron, with onset in developing and maturing patients. Furthermore, the rate of degeneration appears to slow over time, at least in the milder forms. To investigate disease pathophysiology and potential adaptations, the present study utilized axonal excitability studies to provide insights ...

An unusual case of a patient with a long-standing fever of unknown origin (FUO) is presented whose gallium-67 ({sup 67}Ga) images revealed increased activity only in the calf muscles bilaterally. Other imaging modalities also failed to show chest or other abnormal findings. Subsequent biopsy of the right gastrocnemius muscle revealed noncaseating granulomas consistent with the ...

A 61 year old woman and her 58 year old brother presented with the clinical picture of late onset progressive bulbar and spinal muscular atrophy with family history of involvement in successive generations. The sister also had optic neuropathy and the brother developed diabetes mellitus and sex hormone abnormalities. Neurophysiological and ...

The highly characteristic early and midstage histological lesions of Duchenne dystrophy were reproduced experimentally in the rat by the combination of a vascular abnormality, aortic ligation, which does not affect the structure of the intramuscular blood vessels, and the humoral vasoactive substance 5-hydroxytryptamine. Neither ligation nor injection of 5-hydroxytryptamine ...

Fukuyama congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), and muscle-eye-brain (MEB) disease are similar disorders characterized by congenital muscular dystrophy, brain and eye anomalies. We previously identified the genes for FCMD and MEB, which encode fukutin and POMGnT1. Recent studies have revealed that posttranslational ...

Congenital muscular dystrophy is a heterogeneous group of inherited muscle diseases characterized clinically by muscle weakness and hypotonia in early infancy. A number of genes harboring causative mutations have been identified, but several cases of congenital muscular dystrophy remain molecularly unresolved. We examined 15 individuals with a congenital ...

Magnetic resonance imaging (MRI) abnormalities in the cerebral white matter are a consistent feature of merosin-deficient human congenital muscular dystrophy, a disease caused by a primary defect in the expression of the laminin alpha2 chain of merosin. To investigate the relationship between imaging changes and merosin deficiency we undertook a MRI study ...

Calcium and vitamin D deficiencies are associated with abnormal muscular functions including non-specific pain and weakness. A diet survey of a patient complaining of back pain showed a low calcium intake. Clinically patients may have low utilization of dietary calcium. In addition to the normal chiropractic treatments, the patient was given calcium and ...

it challenging to determine the most appropriate treatment. In some cases, abnormally ``short'' or ``spastic by contracture of the iliopsoas (Roosth, 1971; Reimers, 1973; Bleck, 1987; Novacheck et al., 2002) or spasticity; this unexpected result suggests that abnor- mally short or spastic hamstrings, a reputed cause of crouch gait, may

Auditory brainstem responses (ABR) were compared in 24 autistic children, seven children with other childhood psychoses, and 31 normal children. One-third of the autistic Ss showed abnormal ABR indicating brainstem dysfunction and correlating with muscular hypotonia and severe language impairment. Ss with other psychoses and normal Ss showed normal ...

The ability of transcutaneous recordings of gastric electrical activity to detect gastric electrical abnormalities was determined by simultaneous measurements of gastric electrical activity with surgically implanted serosal electrodes and cutaneous electrodes in six patients undergoing abdominal operations. Transient abnormalities in gastric electrical ...

Research on the peripheral effects of COPD has focused on physiological and structural changes. However, different from muscular weakness or decreased physical activity, mechanical abnormalities of the muscular system, e.g. walking, have yet to be investigated. Our purpose was to utilize the National Health and Nutritional Examination ...

We tested the hypothesis that functional cortico-muscular coupling of brain rhythms is implied in the control of lower limb muscles for upright standing. Electroencephalographic (EEG; Be-plus Eb-Neuro) and electromyographic (EMG) data were recorded in 18 fencing and 19 karate elite athletes, 14 karate amateurs, and 9 non-athletes, during quiet upright ...

Chronic heart failure is associated with reduced exercise capacity. Altered diastolic function and reduced chronotropic response play an important role. However, there is no clear correlation between any hemodynamic parameter and exercise capacity. Peripheral factors, long overlooked, seem to play a major role. Altered peripheral vasodilatation, involving endothelial ...

On the basis of our collective experience we have reviewed the disposition of the cardiac conduction tissues as they might be observed by the surgeon in both normal and abnormal hearts. The sinus node lies subepicardially in the terminal sulcus; because of its variable blood supply the entire superior cavoatrial junction is a potential danger area. There are no morphologically ...

The cardiomyopathy of Duchenne's muscular dystrophy originates in the posterobasal left ventricle and extends chiefly to the contiguous lateral wall. Ultrastructural abnormalities in these regions precede connective tissue replacement. We postulated that a metabolic fault coincided with or antedated the subcellular ...

Initial reports of patients with laminin ?2 chain (merosin) deficiency had a relatively homogeneous phenotype, with classical congenital muscular dystrophy (CMD) characterised by severe muscle weakness, inability to achieve independent ambulation, markedly raised creatine kinase, and characteristic white matter hypodensity on cerebral magnetic resonance imaging. We report a ...

Recent studies have shown that after partial spinal-cord lesion at the mid-cervical segment, the remaining pathways compensate for restoring finger dexterity; however, how they control hand/arm muscles has remained unclear. To elucidate the changes in dynamic properties of neural circuits connecting the motor cortex and hand/arm muscles, we investigated the cortico- and ...

A 41-year-old man presented with alcoholic liver cirrhosis with ascites and clotting abnormality. After therapeutic paracentesis, haemoperitoneum ensued without colour Doppler ultrasound or CT evidence of pseudoaneurysm or haematoma at the site of paracentesis. However, an angiogram of the inferior epigastric artery revealed an obvious small pseudoaneurysm arising from its ...

Intraventricular tendons are structures that was identified more than a hundred years ago. It has been suggested that they represent intracavitary radiations of the bundle of His and that they may be an isolated finding or be associated with structural cardiac abnormalities.Loukas et al divided these structures into five categories and recently a sixth type have been ...

Spinal muscular atrophy (SMA), a devastating neurodegenerative disorder characterized by motor neuron loss and muscle atrophy, has been linked to mutations in the Survival Motor Neuron (SMN) gene. Based on an SMA model we developed in Drosophila, which displays features that are analogous to the human pathology and vertebrate SMA models, we functionally linked the fibroblast ...

Peripheral nerves often traverse confined fibro-osseous and fibro-muscular tunnels in the extremities, where they are particularly vulnerable to entrapment and compressive neuropathy. This gives rise to various tunnel syndromes, characterized by distinct patterns of muscular weakness and sensory deficits. This article focuses on several upper and lower ...

A 42 year-old female carrier of Duchenne muscular dystrophy (DMD) was referred with suspected subacute myocarditis and non-sustained ventricular tachycardia. Echochardiography and cardiac catheterization revealed severely reduced left ventricular function (LVF). Coronary artery disease was excluded. Cardiac magnetic resonance imaging showed transmural, intramural and ...

Limb-girdle muscular dystrophy type 2I (LGMD-2I) is caused by mutations in fukutin-related protein gene (FKRP) that lead to abnormal glycosylation of ?-dystroglycan in skeletal muscle. Heart involvement in LGMD-2I is common, but little is known about underlying cardiac pathology. Here, we describe two patients with LGMD-2I (homozygous FKRP mutation ...

Collagen VI is an extracellular matrix protein forming a microfibrillar network in the endomysium of skeletal muscles. In humans, mutations in any of the three genes coding for collagen VI cause several skeletal muscle diseases, including Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD). Collagen VI null (Col6a1(-/-)) mice display a myopathic phenotype ...

Central core disease (CCD) is mainly a disease of infancy and childhood and represents a member of a group of muscular disorders known as "congenital, benign (non-progressive) myopathies". It is an uncommon disease of infancy and early childhood, and presentation is rare in adulthood. The disease is mainly familial with an autosomal-dominant pattern of inheritance, yet ...

were abnormal. Mutant embryos appeared smaller and wider than wild-type embryos. Unlike the torpedo embryos exhibit abnormal cell morphologies and incomplete cell walls (arrow); (D,I) Torpedo stage embryo. Wild-type embryo shows a characteristic torpedo shape. The fk embryo displays an abnormal heart shape

In the field of numerical crash simulations in road safety research, there is a need to accurately define the initial conditions of a frontal impact for the car occupant. In particular, human models used to simulate such impacts barely take into account muscular contracting effects. This study aims to quantify drivers' behaviour in terms of posture and ...

... Title : Effects of Sandfly Fever on Isometric Muscular Strength, Endurance, and Recovery. Effects of Sandfly Fever on Muscular Performance. ...

Failure to maintain the patency of the pharyngeal airway during sleep is central to the pathogenesis of obstructive sleep apnoea (OSA). This failure is hypothesised to be due to the combination of a small pharyngeal airway and inadequate state-dependent neuro-mechanical control. Little is known of how the pharyngeal muscles function in an integrated function to alter the size and shape of the ...

Intra-articular abnormalities of the hip, such as labral tears, loose bodies, chondral lesions, ligamentum teres tears and femoral acetabular impingement are increasingly being recognized in the pediatric age group. Evaluation for these abnormalities starts with a good history and physical exam. Radiographic imaging with plain films and magnetic resonance ...