Skeletal Muscle Channelopathies

Neurol Clin. 2020 Aug;38(3):481-491. doi: 10.1016/j.ncl.2020.04.003.

Abstract

Skeletal muscle channelopathies are rare genetic neuromuscular conditions that include the nondystrophic myotonias and periodic paralyses. They cause disabling muscle symptoms and can limit educational potential, work opportunities, socialization, and quality of life. Effective therapy is available, making it essential to recognize and treat this group of disorders. Here, the authors highlight important aspects regarding diagnosis and management using illustrative case reports.

Keywords: Channelopathies; Myotonia; Myotonia congenita; Paramyotonia congenita; Periodic paralysis.

Publication types

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

MeSH terms

  • Adolescent
  • Andersen Syndrome / diagnosis*
  • Andersen Syndrome / genetics*
  • Andersen Syndrome / physiopathology
  • Channelopathies / diagnosis*
  • Channelopathies / genetics*
  • Channelopathies / physiopathology
  • Humans
  • Hypokalemic Periodic Paralysis / diagnosis*
  • Hypokalemic Periodic Paralysis / genetics*
  • Hypokalemic Periodic Paralysis / physiopathology
  • Male
  • Muscle, Skeletal / physiopathology
  • Mutation / genetics
  • Myotonic Disorders / diagnosis
  • Myotonic Disorders / genetics
  • Myotonic Disorders / physiopathology
  • Neuromuscular Junction Diseases / diagnosis
  • Neuromuscular Junction Diseases / genetics
  • Neuromuscular Junction Diseases / physiopathology