The diagnosis and treatment of myotonic disorders

Muscle Nerve. 2013 May;47(5):632-48. doi: 10.1002/mus.23683. Epub 2013 Mar 27.


Myotonia is a defining clinical symptom and sign common to a relatively small group of muscle diseases, including the myotonic dystrophies and the nondystrophic myotonic disorders. Myotonia can be observed on clinical examination, as can its electrical correlate, myotonic discharges, on electrodiagnostic testing. Research interest in the myotonic disorders continues to expand rapidly, which justifies a review of the scientific bases, clinical manifestations, and numerous therapeutic approaches associated with these disorders. We review the pathomechanisms of myotonia, the clinical features of the dystrophic and nondystrophic myotonic disorders, and the diagnostic approach and treatment options for patients with symptomatic myotonia.

Publication types

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

MeSH terms

  • Chloride Channels / genetics
  • Humans
  • Muscle, Skeletal
  • Myotonia / diagnosis*
  • Myotonia / genetics
  • Myotonia / therapy*
  • Myotonic Disorders / diagnosis*
  • Myotonic Disorders / genetics
  • Myotonic Disorders / therapy*
  • Sodium Channels / genetics


  • Chloride Channels
  • Sodium Channels