Andersen-Tawil syndrome

Handb Clin Neurol. 2024:203:59-67. doi: 10.1016/B978-0-323-90820-7.00001-X.

Abstract

Andersen-Tawil syndrome (ATS) is one of the periodic paralyses, a set of skeletal muscle disorders that cause transient weakness of the arms and legs lasting minutes to many hours. Distinguishing features of ATS include facial and limb dysmorphisms, cardiac arrhythmia, difficulties with executive function, and association with dominant mutations in the potassium channel, KCNJ2. In this review, we discuss the key features of ATS, diagnostic testing, pathophysiology and treatment of ATS, and compare them with other periodic paralyses.

Keywords: Arrhythmia; Channelopathy; Facial dysmorphisms; Myopathy; Periodic paralysis.

Publication types

  • Review

MeSH terms

  • Andersen Syndrome* / diagnosis
  • Andersen Syndrome* / genetics
  • Andersen Syndrome* / physiopathology
  • Andersen Syndrome* / therapy
  • Humans
  • Mutation / genetics
  • Potassium Channels, Inwardly Rectifying / genetics

Substances

  • Potassium Channels, Inwardly Rectifying
  • KCNJ2 protein, human