Facioscapulohumeral muscular dystrophy
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2015 Facioscapulohumeral muscular dystrophy (FSHD) is characterized by a typical and asymmetric pattern of muscle involvement and disease progression. Two forms of FSHD, FSHD1 and FSHD2, have been identified displaying identical clinical phenotype but different genetic and epigenetic basis.
Sacconi, Sabrina +2 more
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Facioscapulohumeral muscular dystrophy: a review of pathogenesis, clinical symptoms, and treatment
Neurologijos seminarai, 2023 Facioscapulohumeral muscular dystrophy is the third most common muscular dystrophy characterised by weakness of the face, scapula, upper arm, and other muscles.
T. Mikalauskas, B. Burnytė
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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
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The prevalence of hereditary neuromuscular disorders in Northern Norway
Brain and Behavior, 2021 Aim To investigate the point prevalence of hereditary neuromuscular disorders on January 1, 2020 in Northern Norway. Methods From January 1, 1999, until January 1, 2020, we screened medical and genetic hospital records in Northern Norway for hereditary ...
Kai Ivar Müller +4 more
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Changes in pain-related beliefs, coping, and catastrophizing predict changes in pain intensity, pain interference, and psychological functioning in individuals with myotonic muscular dystrophy and facioscapulohumeral dystrophy [PDF]
, 2011 The primary aim of this study was to test hypothesized associations between changes in psychological variables (i.e., pain beliefs, catastrophizing and coping strategies) and changes in pain intensity and related adjustment (i.e., pain interference and ...
Jensen, Mark P. +3 more
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Orphanet Journal of Rare Diseases, 2021 Whilst a disease-modifying treatment for Facioscapulohumeral muscular dystrophy (FSHD) does not exist currently, recent advances in complex molecular pathophysiology studies of FSHD have led to possible therapeutic approaches for its targeted treatment ...
Teresa Schätzl, Lars Kaiser, H. Deigner
semanticscholar +1 more source
Oxidative Stress, Inflammation and Connexin Hemichannels in Muscular Dystrophies
Biomedicines, 2022 Muscular dystrophies (MDs) are a heterogeneous group of congenital neuromuscular disorders whose clinical signs include myalgia, skeletal muscle weakness, hypotonia, and atrophy that leads to progressive muscle disability and loss of ambulation.
Arlek González-Jamett +5 more
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Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study. [PDF]
, 2015 BackgroundFacioscapulohumeral muscular dystrophy type 1(FSHD1) is an autosomal dominant disorder associated with the contraction of D4Z4 less than 11 repeat units (RUs) on chromosome 4q35.
Arne-Bes, M.C. +22 more
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Cellular and molecular mechanisms underlying muscular dystrophy [PDF]
, 2014 The muscular dystrophies are a group of heterogeneous genetic diseases characterized by progressive degeneration and weakness of skeletal muscle. Since the discovery of the first muscular dystrophy gene encoding dystrophin, a large number of genes have ...
Kunkel, Louis M., Rahimov, Fedik
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Disability and Rehabilitation, 2022 Purpose To assess the psychosocial outcomes of facial weakness in facioscapulohumeral muscular dystrophy (FSHD). Materials and methods A cross-sectional survey study.
W. van de Geest-Buit +10 more
semanticscholar +1 more source