Duchenne muscular dystrophy

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  • Eppie M Yiu
    Neurology Department Royal Children's Hospital Melbourne Melbourne Victoria Australia
  • Andrew J Kornberg
    Neurology Department Royal Children's Hospital Melbourne Melbourne Victoria Australia

Description

<jats:title>Abstract</jats:title><jats:p>Duchenne muscular dystrophy, an <jats:styled-content style="fixed-case">X</jats:styled-content>‐linked disorder, has an incidence of one in 5000 boys and presents in early childhood with proximal muscle weakness. Untreated boys become wheelchair bound by the age of 12 years and die of cardiorespiratory complications in their late teens to early 20s. The use of corticosteroids, non‐invasive respiratory support, and active surveillance and management of associated complications have improved ambulation, function, quality of life and life expectancy. The clinical features, investigations and management of Duchenne muscular dystrophy are reviewed, as well as the latest in some of the novel therapies.</jats:p>

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