title: Clinical experience with long-term acetazolamide treatment in children with nondystrophic myotonias: a three-case report.
abstract: 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.
  
  
  METHODS
  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.
authors.affiliation: Department of Pediatric Neurology, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands.
authors.forename: Joekie M
authors.initials: JM
authors.lastname: Markhorst
authors.affiliation: Department of Neurology, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands. Electronic address: Bas.Stunnenberg@Radboudumc.nl.
authors.forename: Bas C
authors.initials: BC
authors.lastname: Stunnenberg
authors.affiliation: Department of Human and Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
authors.forename: Ieke B
authors.initials: IB
authors.lastname: Ginjaar
authors.affiliation: Department of Neurology, University Medical Center Groningen, Groningen, The Netherlands.
authors.forename: Gea
authors.initials: G
authors.lastname: Drost
authors.affiliation: Department of Pediatric Neurology, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands.
authors.forename: Corrie E
authors.initials: CE
authors.lastname: Erasmus
authors.affiliation: Department of Pediatric Neurology, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands.
authors.forename: Lilian T L
authors.initials: LT
authors.lastname: Sie
mesh_terms: D000086:Acetazolamide / Q000008:administration & dosage / Q000494:pharmacology*; D000293:Adolescent; D002257:Carbonic Anhydrase Inhibitors / Q000008:administration & dosage / Q000494:pharmacology*; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D009222:Myotonia / Q000175:diagnosis / Q000188:drug therapy*; D016896:Treatment Outcome
chemical_list: D002257:Carbonic Anhydrase Inhibitors; D000086:Acetazolamide
keywords: A186V; CLCN1; L689F; L703P; SCN4A; carbonic anhydrase inhibitor; medication; skeletal muscle channelopathies