Deep brain stimulation in myoclonus-dystonia syndrome.

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.

• Authors: Laura Cif, Enza Maria Valente, Simone Hemm, Christine Coubes, Nathalie Vayssiere, Stéphanie Serrat, Annalisa Di Giorgio, Philippe Coubes
• Journal: Movement disorders : official journal of the Movement Disorder Society (Mov Disord) Vol. 19 Issue 6 Pg. 724-7 (Jun 2004) ISSN: 0885-3185 [Print] United States
• PMID: 15197720 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright 2004 Movement Disorder Society

Chemical References

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

Topics

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