Results 211 to 220 of about 55,263 (257)
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Muscle and Nerve, 2022
The full spectrum of the clinical phenotype of facioscapulohumeral muscular dystrophy (FSHD), beyond skeletal muscle weakness, remains poorly characterized.
Cecilia R Kelly +4 more
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The full spectrum of the clinical phenotype of facioscapulohumeral muscular dystrophy (FSHD), beyond skeletal muscle weakness, remains poorly characterized.
Cecilia R Kelly +4 more
semanticscholar +1 more source
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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A longitudinal study of disease progression in facioscapulohumeral muscular dystrophy (FSHD)
Muscle and NerveIn preparation for clinical trials, it is important to better understand how disease burden changes over time in facioscapulohumeral muscular dystrophy (FSHD) and to assess the capability of select metrics to detect these changes.
A. Varma +10 more
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SCAPULOTHORACIC FUSION FOR FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY
The Journal of Bone and Joint Surgery-American Volume, 2005Facioscapulohumeral 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.
Mohammad, Diab +2 more
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Sleep quality in Facioscapulohumeral muscular dystrophy
Journal of the Neurological Sciences, 2007To 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 +9 more
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Cardiac Involvement in Facioscapulohumeral Muscular Dystrophy
Cardiology, 2005Cardiac involvement (CI) in form of myocardial thickening in a patient with genetically confirmed facioscapulohumeral muscular dystrophy (FSHMD) has not been reported. The patient is a 50-year-old male with a tandem repeat size of 17 and 14 kb in the D4Z4 locus on chromosome 4q35. The clinical cardiologic investigation was normal.
Josef, Finsterer +2 more
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Facioscapulohumeral muscular dystrophy (FSHD)
Neurology, 1994Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal-dominant disorder with a characteristic distribution of weakness and variable severity. Prospective, longitudinal data on FSHD are essential for the design of therapeutic trials and in assessment of genetic heterogeneity.
R. Tawil +4 more
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Facioscapulohumeral muscular dystrophy: the road to targeted therapies
Nature Reviews Neurology, 2023Mara S. Tihaya +7 more
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The heart in becker muscular dystrophy, facioscapulohumeral dystrophy, and bethlem myopathy
Muscle and Nerve, 1992M. de Visser +2 more
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