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Chapter One
Duchenne Muscular Dystrophy:
A Medical Overview
ALEX HOWARTH
Duchenne muscular dystrophy is the most common and usually most
severe form of muscular dystrophy (Kapsa et al., 2003). It is named after
Dr Duchenne de Boulogne - a mid-nineteenth-century French physician, who
was one of the first people to study and document some of the muscular
dystrophies.
Duchenne muscular dystrophy is an X-linked recessive muscle-wasting disorder,
involving progressive muscle weakness which normally becomes
evident before the age of five years in an affected boy. A defective gene on
the X chromosome (at Xp21 site) leads to a deficiency in dystrophin - a
rod-shaped cytoskeletal protein which normally maintains the integrity of the
muscle cell wall. Where dystrophin is deficient, there is an influx of calcium
ions, a breakdown of the calcium calmodulin complex and an excess of free
radicals. These changes lead eventually to irreversible destruction of the
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