Clinical experience with long-term acetazolamide treatment in children with nondystrophic myotonias: a three-case report

Pediatr Neurol. 2014 Oct;51(4):537-41. doi: 10.1016/j.pediatrneurol.2014.05.027. Epub 2014 Jun 4.


Background: Today, treatment of the nondystrophic myotonias consists of mexiletine, although care has to be taken because of the proarrhythmogenic potential of this drug. In this article, we report years of experience with the carbonic anhydrase inhibitor acetazolamide.

Patients: We present three children with nondystrophic myotonias.

Results: During acetazolamide treatment, symptoms and signs of myotonia decreased in our children.

Conclusions: Based on this clinical experience and the favorable pharmacologic profile of acetazolamide, it may be a good treatment option for children with nondystrophic myotonias.

Keywords: A186V; CLCN1; L689F; L703P; SCN4A; carbonic anhydrase inhibitor; medication; skeletal muscle channelopathies.

Publication types

  • Case Reports

MeSH terms

  • Acetazolamide / administration & dosage
  • Acetazolamide / pharmacology*
  • Adolescent
  • Carbonic Anhydrase Inhibitors / administration & dosage
  • Carbonic Anhydrase Inhibitors / pharmacology*
  • Child
  • Female
  • Humans
  • Male
  • Myotonia / diagnosis
  • Myotonia / drug therapy*
  • Treatment Outcome


  • Carbonic Anhydrase Inhibitors
  • Acetazolamide

Supplementary concepts

  • Nondystrophic myotonia