Dystonia 1, torsion, autosomal dominant

Preferred Label : Dystonia 1, torsion, autosomal dominant;

Symbol : DYT1;

CISMeF acronym : DYT1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Early-onset torsion dystonia; EOTD; Dystonia musculorum deformans 1;

Description : 'Dystonia' describes a neurologic condition characterized by involuntary, sustained muscle contractions affecting one or more sites of the body; 'torsion' refers to the twisting nature of body movements observed in dystonia. Dystonia has been classified as primary (dystonia as the sole or major symptom) or secondary (a symptom of another disorder), and by age of onset, muscle groups affected, and mode of inheritance (Muller and Kupke, 1990; Nemeth, 2002). See also DYT2 (224500) for reports of a similar disorder that shows autosomal recessive inheritance.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutations in the torsion dystonia-1 gene (DYT1, 605204.0001).;

Prefixed ID : #128100;

Details

Origin ID

128100;

UMLS CUI

C1851945;

Currated CISMeF NLP mapping
- Autosomal Dominant Torsion Dystonia 1 [NCIt concept]
- Dystonia musculorum deformans type 1 [MeSH concept]
- Early Onset Primary Dystonia [NCIt concept]
- dystonia musculorum deformans [MeSH Descriptor]
- dystonia musculorum deformans type 1 [MeSH Supplementary Concept]
- torsion dystonia 1 [DO Concept]
DO Cross reference
- torsion dystonia 1 [DO Concept]
Genes related to phenotype
- Torsin 1a [OMIM gene]
HPO term(s)
- Abnormal posturing [HPO term]
- Autosomal dominant inheritance [HPO term]
- Blepharospasm [HPO term]
- Depression [HPO term]
- Dysarthria [HPO term]
- Generalized hypotonia [HPO term]
- Hyperlordosis [HPO term]
- Hypertonia [HPO term]
- Hypotonia [HPO term]
- Incomplete penetrance [HPO term]
- Isolated focal dystonia may occur [HPO term]
- Kyphosis [HPO term]
- Lordosis [HPO term]
- Scoliosis [HPO term]
- Torsion dystonia [HPO term]
- Torticollis [HPO term]
- Tremor [HPO term]
- Writer's cramp [HPO term]
ORDO concept(s)
- Early-onset generalized limb-onset dystonia [ORDO Disease]
See also inter- (CISMeF)
- TOR1A wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal Dominant Torsion Dystonia 1 [NCIt concept]
- Dystonia musculorum deformans type 1 [MeSH concept]
Validated automatic mappings to NTBT
- Early-onset generalized limb-onset dystonia [ORDO Disease]

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