Results 11 to 20 of about 57,206 (164)

Genetics of Facioscapulohumeral Muscular Dystrophy

Pediatric Neurology Briefs, 1991
More than 500 subjects from 41 families with dominantly inherited facioscapulohumeral muscular dystrophy (FSHD) were studied at the Royal Hospital for Sick Children, St. Michael’s Hill, Bristol and the University of Wales College of Medicine, Heath Park,
J Gordon Millichap
doaj   +2 more sources

Genetics of Facioscapulohumeral Dystrophy

Pediatric Neurology Briefs, 1996
The relationship of phenotype to genotype in a clinically and genetically well defined population of 157 affected patients and 62 kindreds with facioscapulohumeral muscular dystrophy (FSHD) was examined at the University of Rochester School of Medicine ...
J Gordon Millichap
doaj   +2 more sources

Coats Syndrome in Facioscapulohumeral Dystrophy Type 1

Pediatric Neurology Briefs, 2013
Investigators at University of Rochester Medical Center, NY; Hopital Archet-CHU de Nice, France; and Albert Einstein College of Medicine, NY, studied the frequency of Coats syndrome and its association with D4Z4 contraction size in 408 patients ...
J Gordon Millichap
doaj   +2 more sources

Cognitive behavioural therapy for reducing fatigue in post-polio syndrome and in facioscapulohumeral dystrophy: A comparison [PDF]

Journal of Rehabilitation Medicine, 2017
Background: Cognitive behavioural therapy does not reduce fatigue in post-polio syndrome, but is effective in facioscapulohumeral dystrophy. This difference in efficacy might be explained by a different role of cognitions in these conditions.
Fieke S. Koopman, Merel A. Brehm, Anita Beelen, Nicole Voet, Gijs Bleijenberg, Alexander Geurts, Frans Nollet   +6 more
doaj   +3 more sources

Upper girdle imaging in facioscapulohumeral muscular dystrophy. [PDF]

PLoS ONE, 2014
BackgroundIn Facioscapulohumeral muscular dystrophy (FSHD), the upper girdle is early involved and often difficult to assess only relying on physical examination.
Giorgio Tasca, Mauro Monforte, Elisabetta Iannaccone, Francesco Laschena, Pierfrancesco Ottaviani, Emanuele Leoncini, Stefania Boccia, Giuliana Galluzzi, Marco Pelliccioni, Marcella Masciullo, Roberto Frusciante, Eugenio Mercuri, Enzo Ricci   +12 more
doaj   +2 more sources

Autoimmune Comorbidities as Modifiers of Phenotypic Heterogeneity in Facioscapulohumeral Dystrophy. [PDF]

Ann Clin Transl Neurol
ABSTRACT Objective Facioscapulohumeral dystrophy type 1 (FSHD1) shows clinical heterogeneity that is only partly explained by D4Z4 repeat unit (RU) size. Although immune and inflammatory mechanisms may contribute to disease variability, the prevalence and clinical impact of autoimmune diseases in FSHD remain unclear.
Pini J, Tammam G, Ezaru A, Gambella M, Sanson B, Villa L, Cavalli M, Ioncea MB, Puma A, Sacconi S.   +9 more
europepmc   +2 more sources

A Case of Facioscapulohumeral Muscular Dystrophy [PDF]

International Journal of Medical Students
Background: Facioscapulohumeral muscular dystrophy (FSHMD) is a genetically determined, progressive skeletal muscle disorder characterized by a distinctive pattern of muscle involvement, variable clinical severity, and significant diagnostic challenges.
Neha Sahota, Shubreet Randhawa
doaj   +4 more sources

Facioscapulohumeral Muscular Dystrophy

, 2022
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.
Pakula, Anna, Emerson, Charles P. Jr., Lek, Angela, DeSimone, Alec M.   +3 more
core   +1 more source

Outcome Measures in Facioscapulohumeral Muscular Dystrophy Clinical Trials

, 2022
Facioscapulohumeral muscular dystrophy (FSHD) is a debilitating muscular dystrophy with a variable age of onset, severity, and progression. While there is still no cure for this disease, progress towards FSHD therapies has accelerated since the ...
Emerson, Charles P. Jr., Hayward, Lawrence J., Ghasemi, Mehdi   +2 more
core   +1 more source

Facioscapulohumeral muscular dystrophy. [PDF]

, 2009
Contains fulltext : 80718.pdf (Publisher’s version ) (Closed access)PURPOSE OF REVIEW: Knowledge of the pathogenetic mechanisms in facioscapulohumeral muscular dystrophy is still scattered, but has recently been advanced through novel ...
Engelen, B.G.M. van, Padberg, G.W.A.M.
core   +1 more source