title: 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.affiliation: Department of Neurosurgery, Research Group on Movement Disorders in Children, Gui de Chauliac University Hospital, Montpellier, France.
authors.forename: Laura
authors.initials: L
authors.lastname: Cif
authors.forename: Enza Maria
authors.initials: EM
authors.lastname: Valente
authors.forename: Simone
authors.initials: S
authors.lastname: Hemm
authors.forename: Christine
authors.initials: C
authors.lastname: Coubes
authors.forename: Nathalie
authors.initials: N
authors.lastname: Vayssiere
authors.forename: Stéphanie
authors.initials: S
authors.lastname: Serrat
authors.forename: Annalisa
authors.initials: A
authors.lastname: Di Giorgio
authors.forename: Philippe
authors.initials: P
authors.lastname: Coubes
mesh_terms: D000927:Anticonvulsants / Q000627:therapeutic use; D002648:Child; D003131:Combined Modality Therapy; D017931:DNA Primers / Q000235:genetics; D020821:Dystonic Disorders / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy*; D004558:Electric Stimulation / Q000295:instrumentation; D004831:Epilepsies, Myoclonic / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy*; D017353:Gene Deletion; D005838:Genotype; D006801:Humans; D008297:Male; D018832:Molecular Chaperones / Q000235:genetics; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012720:Severity of Illness Index; D018911:Trinucleotide Repeats / Q000235:genetics
chemical_list: D000927:Anticonvulsants; D017931:DNA Primers; D018832:Molecular Chaperones; C108175:TOR1A protein, human