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Myoclonic dystonia MeSH Supplementary Concept Data 2023


MeSH Supplementary
Myoclonic dystonia
Unique ID
C536096
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C536096
Entry Term(s)
Alcohol-Responsive Dystonia
Dystonia 11
Dystonia, Alcohol-Responsive
Hereditary essential myoclonus
Myoclonus, hereditary essential
Myoclonus-Dystonia
Myoclonus-dystonia syndrome
Registry Number
0
Heading Mapped to
*Dystonic Disorders
Frequency
134
Note
A genetically heterogeneous disorder characterized by myoclonic jerks affecting mostly proximal muscles. DYSTONIA, usually TORTICOLLIS or writer's cramp, is observed in most patients, but occasionally can be the only symptom of the disorder. Onset is usually in childhood or adolescence and symptoms often respond to ALCOHOL DRINKING; patients can also have MENTAL DISORDERS. Mutations in the SGCE abd DRD2 genes have been identified. OMIM: 159900
Date of Entry
2010/08/25
Revision Date
2015/08/18
Myoclonic dystonia Preferred
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