Clinical and genetic features of myoclonus-dystonia in 3 cases: a video presentation

Mov Disord. 2004 Feb;19(2):231-4. doi: 10.1002/mds.10635.

Abstract

Many cases of myoclonus-dystonia (M-D) are caused by mutations in the epsilon-sarcoglycan (SGCE) gene. We describe 3 children with a similar clinical picture of autosomal dominant M-D and an SGCE mutation in only one of them, suggesting that M-D is genetically heterogeneous.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Alleles
  • Child
  • Child, Preschool
  • Chromosome Aberrations
  • Cytoskeletal Proteins / genetics*
  • Disease Progression
  • Dystonic Disorders / diagnosis
  • Dystonic Disorders / genetics*
  • Exons / genetics
  • Fathers
  • Female
  • Follow-Up Studies
  • Genes, Dominant / genetics
  • Genotype
  • Humans
  • Male
  • Membrane Glycoproteins / genetics*
  • Mutagenesis, Insertional / genetics
  • Myoclonus / diagnosis
  • Myoclonus / genetics*
  • Neurologic Examination
  • Psychomotor Disorders / diagnosis
  • Psychomotor Disorders / genetics
  • Sarcoglycans
  • Torticollis / diagnosis
  • Torticollis / genetics
  • Videotape Recording

Substances

  • Cytoskeletal Proteins
  • Membrane Glycoproteins
  • Sarcoglycans