Salbutamol treatment in a patient with hyperkalaemic periodic paralysis due to a mutation in the skeletal muscle sodium channel gene (SCN4A)

J Neurol Neurosurg Psychiatry. 1998 Aug;65(2):248-50. doi: 10.1136/jnnp.65.2.248.

Abstract

A 35 year old woman with clinical features of hyperkalaemic periodic paralysis confirmed on provocative exercise testing was investigated. DNA sequence analysis of the gene for the alpha-subunit of the skeletal muscle voltage gated sodium channel (SCN4A) on chromosome 17q23 identified a point mutation at nucleotide position 2188. This results in a threonine to methionine substitution at amino acid position 704. The patient was intolerant of diuretic medication but showed a striking clinical and electrophysiological improvement with salbutamol therapy. Treatment with beta-adrenergic agents should be considered in patients with hyperkalaemic periodic paralysis who are intolerant of, or resistant to, diuretic medications.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adrenergic beta-Agonists / therapeutic use*
  • Adult
  • Albuterol / therapeutic use*
  • Chromosomes, Human, Pair 17
  • DNA Mutational Analysis
  • Electromyography / drug effects
  • Exercise Test / drug effects
  • Female
  • Humans
  • Hyperkalemia / drug therapy
  • Hyperkalemia / genetics*
  • NAV1.4 Voltage-Gated Sodium Channel
  • Paralyses, Familial Periodic / drug therapy
  • Paralyses, Familial Periodic / genetics*
  • Point Mutation / genetics*
  • Sodium Channels / genetics*

Substances

  • Adrenergic beta-Agonists
  • NAV1.4 Voltage-Gated Sodium Channel
  • SCN4A protein, human
  • Sodium Channels
  • Albuterol