Dystonia in the Mohr-Tranebjaerg syndrome responds to GABAergic substances

Mov Disord. 2004 Oct;19(10):1241-3. doi: 10.1002/mds.20150.

Abstract

Mutations in the X-linked deafness-dystonia peptide 1 (DDP1) gene cause Mohr-Tranebjaerg syndrome (MTS), a rare form of deafness associated with dystonia. In the patient presented here, improvement of dystonic symptoms upon treatment with alcohol and GABAergic substances is demonstrated for the first time.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Clonazepam / therapeutic use*
  • Cognition Disorders / complications
  • Dystonic Disorders / drug therapy*
  • Dystonic Disorders / genetics*
  • GABA Modulators / therapeutic use*
  • Genetic Diseases, X-Linked / drug therapy
  • Genetic Diseases, X-Linked / genetics
  • Hearing Loss, Sensorineural / complications
  • Humans
  • Male
  • Membrane Transport Proteins / genetics*
  • Mental Disorders / complications
  • Mitochondrial Precursor Protein Import Complex Proteins
  • Mutation, Missense / genetics
  • Myoclonus / complications
  • Point Mutation / genetics
  • Syndrome

Substances

  • GABA Modulators
  • Membrane Transport Proteins
  • Mitochondrial Precursor Protein Import Complex Proteins
  • TIMM8A protein, human
  • Clonazepam