Deep brain stimulation in myoclonus-dystonia syndrome.
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.
Cif
Laura
L
Department of Neurosurgery, Research Group on Movement Disorders in Children, Gui de Chauliac University Hospital, Montpellier, France.
Valente
Enza Maria
EM
Hemm
Simone
S
Coubes
Christine
C
Vayssiere
Nathalie
N
Serrat
Stéphanie
S
Di Giorgio
Annalisa
A
Coubes
Philippe
P
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
D000927:Anticonvulsants; D017931:DNA Primers; D018832:Molecular Chaperones; C108175:TOR1A protein, human