The muscular dystrophies

Lancet. 2002 Feb 23;359(9307):687-95. doi: 10.1016/S0140-6736(02)07815-7.

Abstract

The muscular dystrophies are inherited myogenic disorders characterised by progressive muscle wasting and weakness of variable distribution and severity. They can be subdivided into several groups, including congenital forms, in accordance with the distribution of predominant muscle weakness: Duchenne and Becker; Emery-Dreifuss; distal; facioscapulohumeral; oculopharyngeal; and limb-girdle which is the most heterogeneous group. In several dystrophies the heart can be seriously affected, sometimes in the absence of clinically significant weakness. The genes and their protein products that cause most of these disorders have now been identified. This information is essential to establish an accurate diagnosis and for reliable genetic counselling and prenatal diagnosis. There is, as yet, no way of greatly affecting the long-term course of any of these diseases. However, advances in gene manipulation and stem-cell therapy suggest cautious optimism for finding an effective treatment in the not-too-distant future.

Publication types

  • Review

MeSH terms

  • Cardiomyopathy, Dilated / etiology
  • Cardiomyopathy, Dilated / physiopathology
  • Electromyography
  • Humans
  • Muscular Dystrophies* / diagnosis
  • Muscular Dystrophies* / physiopathology
  • Muscular Dystrophies* / therapy
  • Muscular Dystrophy, Duchenne / diagnosis
  • Muscular Dystrophy, Duchenne / physiopathology
  • Muscular Dystrophy, Duchenne / therapy
  • Muscular Dystrophy, Emery-Dreifuss / genetics