Dystonia 11, myoclonic

Preferred Label : Dystonia 11, myoclonic;

Symbol : DYT11;

CISMeF acronym : DYT11;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Myoclonus-dystonia syndrome; Myoclonic dystonia; Dystonia, alcohol-responsive; Myoclonus, hereditary essential;

Description : Myoclonus-dystonia is 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 of the disorder is usually in the first or second decade. Symptoms often respond to alcohol, and patients can also have psychiatric abnormalities (Valente et al., 2003; Schule et al., 2004). See also HETEROGENEITY below for other forms of the disorder that do not map to 7q21, including DYT15 (607488), which maps to 18p11.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the epsilon-sarcoglycan gene (SGCE, 604149.0001);

Prefixed ID : #159900;

Details

Origin ID

159900;

UMLS CUI

C1834570;

Currated CISMeF NLP mapping
- Myoclonic dystonia [MedDRA Preferred Term]
- Myoclonic dystonia [MeSH concept]
- Myoclonic dystonia (disorder) [SNOMED CT concept]
- Myoclonus-dystonia syndrome [ORDO Disease]
- myoclonic dystonia [MeSH Supplementary Concept]
- myoclonic dystonia 11 [DO Concept]
DO Cross reference
- myoclonic dystonia 11 [DO Concept]
Genes related to phenotype
- Sarcoglycan, epsilon [OMIM gene]
HPO term(s)
- Agoraphobia [HPO term]
- Anxiety [HPO term]
- Autosomal dominant inheritance [HPO term]
- Depression [HPO term]
- Generalized hypotonia [HPO term]
- Hypotonia [HPO term]
- Incomplete penetrance [HPO term]
- Juvenile onset [HPO term]
- Myoclonus [HPO term]
- Obsessive-compulsive behavior [HPO term]
- Torticollis [HPO term]
- Tremor [HPO term]
- Writer's cramp [HPO term]
ORDO concept(s)
- Myoclonus-dystonia syndrome [ORDO Disease]
See also inter- (CISMeF)
- myoclonus dystonia syndrome [Disease (Nov.)]
- symbol withdrawn DYT11 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dystonia 11, Myoclonic [NCIt concept]
- Myoclonic dystonia [MeSH concept]
- Myoclonic dystonia [MedDRA Preferred Term]
- Myoclonic dystonia (disorder) [SNOMED CT concept]
- Myoclonus-dystonia syndrome [ORDO Disease]
- myoclonic dystonia [MeSH Supplementary Concept]
- myoclonic dystonia [DO Concept]
- myoclonic dystonia 11 [DO Concept]
- myoclonus dystonia syndrome [Disease (Nov.)]
Validated automatic mappings to NTBT
- myoclonic dystonia [DO Concept]

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