DYT11, DYT15, Myoclonus-dystonia

M. San Luciano, R. Saunders-Pullman

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

Abstract

Myoclonus-dystonia (M-D) is a rare hereditary dystonia-plus disorder characterized by early-onset myoclonus and dystonia, alcohol responsiveness and an association with psychiatric disorders. Mutations in the epsilon-sarcoglycan gene (SGCE) at locus 7q21 and most recently described locus 18p11 have been associated with this condition. While there is phenotypic variability, with some individuals exhibiting only mild disease and others more severe, the relation of the clinical features to specific SGCE mutations is unknown. Usual treatment includes benzodiazepines and certain anticonvulsants for myoclonus and anticholinergic medications, benzodiazepines, and when applicable, botulinum toxin injections for dystonia. Deep brain stimulation of the ventral intermediate thalamic nucleus and the globus pallidus pars interna has been reported to help both dystonia and myoclonus in a few published cases.

Original languageEnglish
Title of host publicationEncyclopedia of Movement Disorders
PublisherElsevier Inc.
Pages431-435
Number of pages5
ISBN (Electronic)9780123741059
ISBN (Print)9780123741011
DOIs
StatePublished - 1 Jan 2010
Externally publishedYes

Keywords

  • Alcohol responsiveness
  • DYT11
  • DYT15
  • Dystonia
  • Epsilon-sarcoglycan
  • Jerky dystonia
  • Myoclonus
  • SGCE
  • Writer's cramp

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