Duchenne muscular dystrophy

EM Yiu, AJ Kornberg - Journal of paediatrics and child health, 2015 - Wiley Online Library
EM Yiu, AJ Kornberg
Journal of paediatrics and child health, 2015Wiley Online Library
Duchenne muscular dystrophy, an X‐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 …
Abstract
Duchenne muscular dystrophy, an X‐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.
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