Deep brain stimulation in myoclonus-dystonia syndrome

Mov Disord. 2004 Jun;19(6):724-7. doi: 10.1002/mds.20030.

Abstract

Myoclonus-dystonia syndrome (MDS) is an autosomal dominant disorder characterized by bilateral myoclonic jerks. An 8-year-old boy presenting with early onset, medically intractable, MDS due to a mutation in the epsilon-sarcoglycan gene (SGCE) underwent chronic bilateral stimulation of the globus pallidus internus, which eliminates both myoclonus and dystonia. We conclude that deep brain stimulation can be an effective and safe treatment for MDS.

Publication types

  • Case Reports

MeSH terms

  • Anticonvulsants / therapeutic use
  • Child
  • Combined Modality Therapy
  • DNA Primers / genetics
  • Dystonic Disorders / diagnosis
  • Dystonic Disorders / genetics*
  • Dystonic Disorders / therapy*
  • Electric Stimulation / instrumentation
  • Epilepsies, Myoclonic / diagnosis
  • Epilepsies, Myoclonic / genetics*
  • Epilepsies, Myoclonic / therapy*
  • Gene Deletion
  • Genotype
  • Humans
  • Male
  • Molecular Chaperones / genetics
  • Pedigree
  • Polymerase Chain Reaction
  • Severity of Illness Index
  • Trinucleotide Repeats / genetics

Substances

  • Anticonvulsants
  • DNA Primers
  • Molecular Chaperones
  • TOR1A protein, human