Late onset painful cold-aggravated myotonia: three families with SCN4A L1436P mutation

Neuromuscul Disord. 2011 Aug;21(8):590-3. doi: 10.1016/j.nmd.2011.05.006. Epub 2011 Jun 12.

Abstract

We describe three Belgian families with a L1436P mutation in the SCN4A gene, causing a sodium channel myotonia with an atypical clinical presentation, characterized by late onset painful cold-aggravated myotonia. These families represent a distinct phenotype within the spectrum of sodium channel myotonia.

Publication types

  • Case Reports

MeSH terms

  • Acetazolamide / therapeutic use
  • Adult
  • Age of Onset
  • Aged
  • Aged, 80 and over
  • Amitriptyline / therapeutic use
  • Anticonvulsants / therapeutic use
  • Belgium
  • Carbamazepine / therapeutic use
  • Cold Temperature / adverse effects*
  • Electromyography
  • Female
  • Humans
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Myotonia / epidemiology*
  • Myotonia / etiology
  • Myotonia / genetics*
  • NAV1.4 Voltage-Gated Sodium Channel
  • Pain / epidemiology*
  • Pain / etiology
  • Pain / genetics*
  • Phenotype
  • Sodium Channels / genetics*
  • Treatment Outcome

Substances

  • Anticonvulsants
  • NAV1.4 Voltage-Gated Sodium Channel
  • SCN4A protein, human
  • Sodium Channels
  • Amitriptyline
  • Carbamazepine
  • Acetazolamide