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Current Biology, 2000 Muscular dystrophy is a group of genetically determined muscular disorders marked by progressive wasting and weakness of the skeletal muscle, but which often affect cardiac and smooth muscles or other tissues. The patterns of inheritance are either dominant or recessive although the gene may be defective because of a new mutation.
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Duchenne muscular dystrophy [PDF]
Nature Reviews Disease Primers, 2021 Duchenne muscular dystrophy is a severe, progressive, muscle-wasting disease that leads to difficulties with movement and, eventually, to the need for assisted ventilation and premature death. The disease is caused by mutations in DMD (encoding dystrophin) that abolish the production of dystrophin in muscle.
Dongsheng Duan +4 more
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The Lancet, 2019 Muscular dystrophies are primary diseases of muscle due to mutations in more than 40 genes, which result in dystrophic changes on muscle biopsy. Now that most of the genes responsible for these conditions have been identified, it is possible to accurately diagnose them and implement subtype-specific anticipatory care, as complications such as cardiac ...
Mercuri E., Bonnemann C. G., Muntoni F.
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The muscular dystrophies [PDF]
Postgraduate Medical Journal, 1992 In 1879 William Gowers, the eminent British neurologist, painted a remarkably lucid word picture of Duchenne muscular dystrophy in his series of lectures on pseudohypertrophic muscular paralysis, published in the Lancet.' This disease, he said, is one of the most interesting, and at the same time most sad, of all those with which we have to deal ...
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Facioscapulohumeral muscular dystrophy
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2007 Facioscapulohumeral muscular dystrophy (FSHD) is caused by a cascade of epigenetic events following contraction of the polymorphic macrosatellite repeat D4Z4 in the subtelomere of chromosome 4q. Currently, the central issue is whether immediate downstream effects are local (i.e., at chromosome 4q) or global (genome-wide) and there is evidence for both ...
Maarel, S.M. van der +2 more
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Facioscapulohumeral Muscular Dystrophy [PDF]
Neurologic Clinics, 2014 ABSTRACT Purpose of Review: This article describes the clinical characteristics, diagnosis, molecular pathogenesis, and treatment of facioscapulohumeral muscular dystrophy (FSHD). Recent Findings: FSHD comprises two genetically distinct types that converge on a common ...
Jeffrey Statland, Rabi Tawil
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Fortnightly review: The muscular dystrophies
BMJ, 1998 The muscular dystrophies are inherited myogenic disorders characterised by progressive muscle wasting and weakness of variable distribution and severity. They can be subdivided into several groups, including congenital forms, in accordance with the distribution of predominant muscle weakness: Duchenne and Becker; Emery-Dreifuss; distal ...
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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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Cardiomyopathy in muscular dystrophy [PDF]
QJM: An International Journal of Medicine, 2017 none
Indorkar, R +4 more
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Facioscapulohumeral Muscular Dystrophy
Neurotherapeutics, 2004 Facioscapulohumeral muscular dystrophy (FSHD), a dominantly inherited disorder, is the third most common dystrophy after Duchenne and myotonic muscular dystrophy. No known effective treatments exist for FSHD. The lack of an understanding of the underlying pathophysiology remains an obstacle in the development of targeted therapeutic interventions.
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