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Muscular dystrophy 

Muscular dystrophy
Chapter:
Muscular dystrophy
Author(s):

Kate Bushby

, and Chiara Marini-Bettolo

DOI:
10.1093/med/9780198746690.003.0609
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date: 05 March 2021

Muscular dystrophy is not a single disease. Many different types of muscular dystrophy can be recognized: all are primary, genetically determined disorders of muscle and all cause muscle weakness and wasting, which is usually progressive. Muscular dystrophies are primary, genetically determined disorders of muscle. All cause muscle weakness, which is usually progressive. They are challenging to classify, but clinical characteristics can be combined with genetic and molecular information to obtain a useful operational nomenclature for prognosis and family counselling. In general, diagnosis is guided by the age at which clinical manifestations appear, the distribution of weakness, and the rate at which muscle function is lost, but unusual features such as muscle pain and rhabdomyolysis may also contribute to the identification of a particular hereditary muscle disorder.

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