Results 141 to 150 of about 3,828 (168)

Facioscapulohumeral Muscular Dystrophy

Comprehensive Physiology, 2017
ABSTRACT 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., Pakula, Anna, Lek, Angela, Emerson, Charles P. Jr.   +3 more
openaire   +3 more sources

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

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

Facioscapulohumeral Muscular Dystrophy

2023
Johanna Hamel, Rabi Tawil
openaire   +1 more source

Outcome Measures in Facioscapulohumeral Muscular Dystrophy Clinical Trials

Cells, 2022
Mehdi Ghasemi, Lawrence J Hayward
exaly  

Proteomics of Muscle Microdialysates Identifies Potential Circulating Biomarkers in Facioscapulohumeral Muscular Dystrophy

International Journal of Molecular Sciences, 2021
Víctor Corasolla Carregari, Luisa Pieroni, Mauro Monforte   +2 more
exaly  

Nutritional Status of Patients with Facioscapulohumeral Muscular Dystrophy

Nutrients, 2023
Arbogast Sandrine, Jacques Mercier, Jean-Paul Cristol   +2 more
exaly