Current concepts in dystrophinopathies

Indian J Pediatr. 2015 Feb;82(2):172-8. doi: 10.1007/s12098-014-1621-2. Epub 2014 Nov 23.

Abstract

Dystrophinopathies comprise a group of hereditary muscle disorders characterized by progressive wasting and weakness of skeletal muscle, as a result of degeneration of muscle fibers, and can be distinguished by the mode of transmission, age at onset and pattern of muscle weakness. The range of phenotypes associated with the region Xp21 has been expanding since identification of the gene in 1987. The mild end of the spectrum includes the phenotype of the muscle cramps with myoglobinuria and isolated quadriceps myopathy, while at the severe end, there are progressive muscle diseases that are classified as Duchenne / Becker muscular dystrophy (DMD/BMD).

Publication types

  • Review

MeSH terms

  • Child
  • Disease Management
  • Disease Progression
  • Dystrophin* / genetics
  • Dystrophin* / metabolism
  • Genetic Testing / methods
  • Humans
  • Muscular Dystrophy, Duchenne* / epidemiology
  • Muscular Dystrophy, Duchenne* / genetics
  • Muscular Dystrophy, Duchenne* / physiopathology
  • Muscular Dystrophy, Duchenne* / therapy

Substances

  • Dystrophin