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Muscular dystrophies
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Journal Article
Muscular dystrophies
2019
Overview
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 and respiratory muscle involvement vary greatly. This development and advances in the field of supportive medicine have changed the standard of care, with an overall improvement in the clinical course, survival, and quality of life of affected individuals. The improved understanding of the pathogenesis of these diseases is being used for the development of novel therapies. In the most common form, Duchenne muscular dystrophy, a few personalised therapies have recently achieved conditional approval and many more are at advanced stages of clinical development. In this Seminar, we concentrate on clinical manifestations, molecular pathogenesis, diagnostic strategy, and therapeutic developments for this group of conditions.
Publisher
Elsevier Ltd,Elsevier Limited
