Clinical, electrophysiological and genetic features of a large Australian family with paramyotonia congenita

Med J Aust. 2009 Mar 16;190(6):334-6. doi: 10.5694/j.1326-5377.2009.tb02500.x.

Abstract

A 32-year-old woman with a 4-year history of multiple sclerosis presented with persistent clawing of the right hand. History revealed that she and five family members had lifelong symptoms of paradoxical myotonia (impaired relaxation of muscles following muscle contraction), exacerbated by cold. The family was diagnosed with paramyotonia congenita, based on neurophysiological and genetic studies. To our knowledge, this is the first report of an Australian family with paramyotonia congenita.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Female
  • Humans
  • Mutation
  • Myotonic Disorders / diagnosis
  • Myotonic Disorders / genetics*
  • Myotonic Disorders / physiopathology
  • NAV1.4 Voltage-Gated Sodium Channel
  • Pedigree*
  • Sodium Channels / genetics*
  • Sodium Channels / physiology

Substances

  • NAV1.4 Voltage-Gated Sodium Channel
  • SCN4A protein, human
  • Sodium Channels