Results 131 to 140 of about 3,762 (173)
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Seminars in Neurology, 1999
Facioscapulohumeral dystrophy (FSHD) is one of the most common inherited neuromuscular disorders, with an estimated prevalence of 1:20,000. The disease is autosomal dominant, although 10-30% of cases appear to arise from a de novo mutation. The disease presents with a characteristic pattern of weakness which affects predominantly the face and scapular ...
John T Kissel, J T Kissel
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Facioscapulohumeral dystrophy (FSHD) is one of the most common inherited neuromuscular disorders, with an estimated prevalence of 1:20,000. The disease is autosomal dominant, although 10-30% of cases appear to arise from a de novo mutation. The disease presents with a characteristic pattern of weakness which affects predominantly the face and scapular ...
John T Kissel, J T Kissel
exaly +3 more sources
Facioscapulohumeral muscular dystrophy
Muscle and Nerve, 2006AbstractFacioscapulohumeral muscular dystrophy (FSHD) is a dominantly inherited disorder with an initially restricted pattern of weakness. Early involvement of the facial and scapular stabilizer muscles results in a distinctive clinical presentation. Progression is descending, with subsequent involvement of either the distal anterior leg or hipâgirdle ...
Silvere Van Der Maarel, Rabi Tawil
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Facioscapulohumeral muscular dystrophy
Current Opinion in Neurology, 2009Knowledge of the pathogenetic mechanisms in facioscapulohumeral muscular dystrophy is still scattered, but has recently been advanced through novel developments on the genetic scientific front.The present brief review highlights some recent studies on the pathogenesis of facioscapulohumeral muscular dystrophy pointing to major involvement of muscle ...
Padberg, G.W.A.M., Engelen, B.G.M. van
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Facioscapulohumeral Muscular Dystrophy
Comprehensive Physiology, 2017ABSTRACT Facioscapulohumeral Muscular Dystrophy is a common form of muscular dystrophy that presents clinically with progressive weakness of the facial, scapular, and humeral muscles, with later involvement of the trunk and lower extremities.
DeSimone, Alec M. +3 more
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Facioscapulohumeral Muscular Dystrophy
ContinuumFacioscapulohumeral muscular dystrophy (FSHD) is one of the most common forms of muscular dystrophy, affecting individuals across the lifespan with variable severity. This article provides an overview of the distinctive genetic mechanisms underlying FSHD, its clinical manifestations, including pediatric-specific features, treatment, and the evolving ...
Natalie K. Katz, Jeffrey M. Statland
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Facioscapulohumeral muscular dystrophy
2001Abstract The defining clinical features include the onset of weakness of the facial or shoulder girdle muscles, leading eventually to the wasting of these muscles (Fig. 8.1). Significant facial weakness is evident in more than half of all affected FSHD patients.
Meena Upadhyaya, David N. Cooper
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Facioscapulohumeral Muscular Dystrophies
Continuum, 2019Facioscapulohumeral muscular dystrophy (FSHD) is a common muscular dystrophy affecting both pediatric and adult patients. This article reviews the phenotype and pathophysiology of the disease as well as the recent efforts in clinical outcome measures and clinical trials.As the name implies, FSHD involves weakness of facial muscles, muscles that fix the
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Facioscapulohumeral muscular dystrophy
Current Opinion in Neurology, 1999A decade's progress in facioscapulohumeral muscular dystrophy genetics has been marked by the discovery of novel genetic phenomena such as crossover of subtelomeric DNA between chromosomes 4 and 10 in normal individuals and by the recognition that the facioscapulohumeral muscular dystrophy deletion-mutation may cause a position variegation effect on ...
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Hearing loss in facioscapulohumeral dystrophy
European Journal of Pediatrics, 1986Bilateral sloping high frequency hearing loss of 20-90 dB was found in six out of ten patients with infantile or adolescent onset FSHD. In all cases the basic defect could be traced to the cochlea. The outer hair cells of the basal turn are predominantly affected.
T, Voit +3 more
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Beevor's Sign and Facioscapulohumeral Dystrophy
Archives of Neurology, 1990We have frequently observed that Beevor's sign was present in patients with facioscapulohumeral dystrophy (FSHD) but absent in patients with other neuromuscular disorders. To determine the significance of this observation we prospectively evaluated 30 patients with FSHD and 40 patients with other neuromuscular disorders. Beevor's sign was present in 27
G I, Awerbuch, M A, Nigro, R, Wishnow
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