Myotonic dystrophy

Neurol Clin. 2014 Aug;32(3):705-19, viii. doi: 10.1016/j.ncl.2014.04.011. Epub 2014 Jun 6.


Myotonic dystrophy (dystrophia myotonica, DM) is one of the most common lethal monogenic disorders in populations of European descent. DM type 1 was first described over a century ago. More recently, a second form of the disease, DM type 2 was recognized, which results from repeat expansion in a different gene. Both disorders have autosomal dominant inheritance and multisystem features, including myotonic myopathy, cataract, and cardiac conduction disease. This article reviews the clinical presentation and pathophysiology of DM and discusses current management and future potential for developing targeted therapies.

Keywords: Electrophysiology; Expanded DNA repeat; Myopathy; Myotonic dystrophy.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Europe / ethnology
  • Female
  • Humans
  • Male
  • Myotonic Dystrophy / diagnosis*
  • Myotonic Dystrophy / ethnology
  • Myotonic Dystrophy / genetics*
  • Myotonic Dystrophy / metabolism