The importance of genetic diagnosis for Duchenne muscular dystrophy

J Med Genet. 2016 Mar;53(3):145-51. doi: 10.1136/jmedgenet-2015-103387. Epub 2016 Jan 11.


Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy are caused by mutations in the dystrophin-encoding DMD gene. Large deletions and duplications are most common, but small mutations have been found as well. Having a correct diagnosis is important for family planning and providing proper care to patients according to published guidelines. With mutation-specific therapies under development for DMD, a correct diagnosis is now also important for assessing whether patients are eligible for treatments. This review discusses different mutations causing DMD, diagnostic techniques available for making a genetic diagnosis for children suspected of DMD and the importance of having a specific genetic diagnosis in the context of emerging genetic therapies for DMD.

Keywords: Diagnosis; Genetics; Muscle disease.

Publication types

  • Review

MeSH terms

  • Child, Preschool
  • Diagnostic Techniques and Procedures*
  • Humans
  • Muscular Dystrophy, Duchenne / diagnosis*
  • Muscular Dystrophy, Duchenne / genetics*
  • Muscular Dystrophy, Duchenne / therapy