Deep brain stimulation in myoclonus–dystonia syndrome
Identifieur interne : 003D55 ( Main/Exploration ); précédent : 003D54; suivant : 003D56Deep brain stimulation in myoclonus–dystonia syndrome
Auteurs : Laura Cif [France] ; Enza Maria Valente [Italie] ; Simone Hemm [France] ; Christine Coubes [France] ; Nathalie Vayssiere [France] ; Stéphanie Serrat [France] ; Annalisa Di Giorgio [Italie] ; Philippe Coubes [France]Source :
- Movement Disorders [ 0885-3185 ] ; 2004-06.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Anticonvulsants (therapeutic use), Child, Combined Modality Therapy, DNA Primers (genetics), Dystonia, 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), Myoclonus, Nervous system diseases, Pedigree, Polymerase Chain Reaction, Severity of Illness Index, Trinucleotide Repeats (genetics), dystonia, myoclonus, neurosurgery.
- MESH :
- chemical , genetics : DNA Primers, Molecular Chaperones.
- chemical , therapeutic use : Anticonvulsants.
- diagnosis : Dystonic Disorders, Epilepsies, Myoclonic.
- genetics : Dystonic Disorders, Epilepsies, Myoclonic, Trinucleotide Repeats.
- instrumentation : Electric Stimulation.
- therapy : Dystonic Disorders, Epilepsies, Myoclonic.
- Child, Combined Modality Therapy, Gene Deletion, Genotype, Humans, Male, Pedigree, Polymerase Chain Reaction, Severity of Illness Index.
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 ϵ‐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. © 2004 Movement Disorder Society
Url:
DOI: 10.1002/mds.20030
Affiliations:
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Le document en format XML
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<front><div type="abstract" xml:lang="en">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 ϵ‐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. © 2004 Movement Disorder Society</div>
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