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Duchenne muscular dystrophy

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Duchenne muscular dystrophy is a common and possibly the best known muscular dystrophy. It follows an aggressive and progressive course.

The disease is inherited in an X-linked manner although up to 30% of cases represent new mutations. The gene for Duchenne muscular dystrophy is the dystrophin locus at Xp21.

  • occurs in approximately 1 in 3500 male births, and in about 1 in 50 000 000 female births
  • females with a mutant X chromosome will not have DMD, but they will be carriers of the disorder
  • those very rare females who have DMD are believed to either carry mutant genes on both X chromosomes, or have an inactivated healthy X chromosome (1)

Notes:

  • the prevalence of Duchenne's muscular dystrophy varies with respect to different populations. However, in a study of neuromuscular disease in Northern Ireland, Duchenne muscular dystrophy was found to have the second highest prevalence, after myotonic dystrophy (2).

Reference:

  1. Webb CL. Parents' perspectives on coping with Duchenne muscular dystrophy. Child Care Health Dev. 2005 Jul;31(4):385-96.
  2. Hicks MI et al. The prevalence of inherited neuromuscular disease in Northern Ireland.Neuromuscul Disord. 1996 Jan;6(1):69-73.

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