Results 161 to 170 of about 275,647 (194)

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
openaire   +4 more sources

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 ...
openaire   +2 more sources

Systemic manifestations and symptom burden of facioscapulohumeral muscular dystrophy in a referral cohort

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, Jacqui-Lyn Saw, P. Thapa, J. Mandrekar, E. Naddaf   +4 more
semanticscholar   +1 more source

Hearing Loss, Retinal Abnormality, and Seizures in People With Facioscapulohumeral Muscular Dystrophy

Muscle and Nerve
Few studies describing comorbidities in individuals with facioscapulohumeral muscular dystrophy (FSHD) are available. We used data from the Muscular Dystrophy Surveillance, Tracking and Research Network (MD STARnet) to identify and describe the ...
Shannon N. Kilburn, Shiny Thomas, A. L. Havlik, Katherine D. Mathews, N. Street, Aida Soim   +5 more
semanticscholar   +1 more source

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
openaire   +2 more sources

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.
Mohammad, Diab, Basil T, Darras, Frederic, Shapiro   +2 more
openaire   +2 more sources

Cardiac Involvement in Facioscapulohumeral Muscular Dystrophy

Cardiology, 2005
Cardiac 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, Claudia, Stöllberger, Gerhard, Meng   +2 more
openaire   +2 more sources

The heart in becker muscular dystrophy, facioscapulohumeral dystrophy, and bethlem myopathy

Muscle and Nerve, 1992
M. de Visser, W. D. de Voogt, Guusje V. la Rivière   +2 more
semanticscholar   +1 more source

Muscular Dystrophy, Facioscapulohumeral

, 2014
Carla Cde Baca
semanticscholar   +1 more source

Therapeutic Approaches in Facioscapulohumeral Muscular Dystrophy

Trends in Molecular Medicine, 2021
Angela Lek, Alec M DeSimone, Monkol Lek
exaly