Pain in SCN4A Mutated P.A1156T muscle sodium channelopathy-a postal survey

Muscle Nerve. 2018 Jun;57(6):1014-1017. doi: 10.1002/mus.26050. Epub 2018 Jan 11.

Abstract

Introduction: The p.A1156T mutation alters the function of the voltage-gated sodium channel Nav1.4 on the muscle sarcolemma, causing a channelopathy without overt myotonia or periodic paralysis but with myalgic pain.

Methods: A postal survey was conducted to assess the prevalence and characteristics of pain and related symptoms in individuals with the p.A1156T mutation. A specific questionnaire, intensity and interference subscales of the Brief Pain Inventory, pain drawing, Widespread Pain Index, quality of life (RAND-36), and the Beck Depression Inventory were completed.

Results: Twenty of 24 patients replied. Current pain was reported by 16 respondents; the other 4 had experienced pain previously. Most commonly, pain was widespread and exercise-induced. The severity and the impact of pain on daily life were considerable, although varied.

Discussion: This sodium channelopathy is another entity in the growing number of diseases causing widespread myalgic pain that resembles the pain seen in fibromyalgia syndrome. Muscle Nerve 57: 1014-1017, 2018.

Keywords: SCN4A; channelopathy; myalgia; p.A1156T; pain; postal survey.

MeSH terms

  • Adult
  • Aged
  • Channelopathies / complications
  • Channelopathies / genetics*
  • Channelopathies / psychology
  • Depression / psychology
  • Female
  • Health Surveys
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Myalgia / etiology*
  • Myalgia / genetics
  • NAV1.4 Voltage-Gated Sodium Channel / genetics*
  • Quality of Life / psychology*
  • Young Adult

Substances

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