Myoclonus-dystonia: an update

Mov Disord. 2009 Mar 15;24(4):479-89. doi: 10.1002/mds.22425.

Abstract

Our knowledge of the clinical, neurophysiological, and genetic aspects of myoclonus-dystonia (M-D) has improved markedly in the recent years. Basic research has provided new insights into the complex dysfunctions involved in the pathogenesis of M-D. On the basis of a comprehensive literature search, this review summarizes current knowledge on M-D, with a focus on recent findings. We also propose modified diagnostic criteria and recommendations for clinical management.

Publication types

  • Review

MeSH terms

  • Diagnosis, Differential
  • Dystonia / complications*
  • Dystonia / diagnosis
  • Dystonia / genetics
  • Dystonia / therapy
  • Humans
  • Magnetic Resonance Imaging / methods
  • Movement Disorders / genetics
  • Movement Disorders / physiopathology*
  • Movement Disorders / therapy
  • Mutation / genetics
  • Myoclonus / complications*
  • Myoclonus / diagnosis
  • Myoclonus / genetics
  • Myoclonus / therapy
  • Sarcoglycans / genetics

Substances

  • SGCE protein, human
  • Sarcoglycans