Results 181 to 190 of about 7,021 (220)

Facioscapulohumeral muscular dystrophy

Muscle & Nerve, 2006
AbstractFacioscapulohumeral 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 hip‐girdle ...
Silvère M. van der Maarel, Rabi Tawil
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Facioscapulohumeral Muscular Dystrophy

Comprehensive Physiology, 2017
ABSTRACTFacioscapulohumeral 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. While typically inherited as autosomal dominant, facioscapulohumeral muscular dystrophy (FSHD) has a complex ...
Anna Pakula, Anna Pakula, Alec M. DeSimone, Charles P. Emerson, Angela Lek, Angela Lek, Angela Lek   +6 more
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Facioscapulohumeral muscular dystrophy

Current Opinion in Neurology, 2009
Knowledge 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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Sleep quality in Facioscapulohumeral muscular dystrophy

Journal of the Neurological Sciences, 2007
To evaluate the subjective sleep quality, the prevalence of daytime sleepiness and the risk of sleep-related upper airways obstruction in patients with genetically proven Facioscapulohumeral muscular dystrophy (FSHD). FSHD is an autosomal dominant myopathy, characterized by an early involvement of facial and scapular muscles with eventual spreading to ...
Della Marca, Giacomo, Frusciante, Roberto, Vollono, Catello, Dittoni, Serena, Galluzzi, G, Buccarella, C, Modoni, Anna, Mazza, Salvatore, Tonali ,Pa, Ricci, Enzo   +9 more
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Facioscapulohumeral muscular dystrophy

2001
Abstract 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, 2019
Facioscapulohumeral 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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Ventilatory support in facioscapulohumeral muscular dystrophy

Neurology, 2004
Respiratory insufficiency due to respiratory muscle weakness is a common complication of many neuromuscular diseases. The prevalence of respiratory failure in facioscapulohumeral muscular dystrophy (FSHD) is unknown. The authors identified 10 FSHD patients on nocturnal ventilatory support at home, representing approximately 1% of the Dutch FSHD ...
Wohlgemuth, M., Kooi, E.L. van der, Kesteren, R.G. van, Maarel, S.M. van der, Padberg, G.W.A.M.   +4 more
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Facioscapulohumeral muscular dystrophy

Current Opinion in Neurology, 1999
A 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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SCAPULOTHORACIC FUSION FOR FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY

The Journal of Bone and Joint Surgery-American Volume, 2005
Facioscapulohumeral muscular dystrophy causes winging of the scapula and weakness and discomfort of the shoulder. Surgical stabilization of the scapula to the posterior part of the chest wall permits shoulder abduction and flexion by the deltoid muscle.
Frederic Shapiro, Mohammad Diab, Basil T. Darras   +2 more
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Diagnostic challenges in facioscapulohumeral muscular dystrophy

Neurology, 2006
The diagnosis of facioscapulohumeral muscular dystrophy (FSHD) can be difficult due to its clinical variability and complex genetic cause. We present three challenging cases: one misdiagnosis of FSHD, one patient with FSHD resembling mitochondrial myopathy, and one patient with combined FSHD and limb girdle muscular dystrophy 2A.
SACCONI S, SALVIATI, LEONARDO, BOURGET I, FIGARELLA D, PEREON Y, LEMMERS R, VAN DER MAAREL S, DESNUELLE C.   +7 more
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