Dystonia 7, torsion

Preferred Label : Dystonia 7, torsion;

Symbol : DYT7;

CISMeF acronym : DYT7;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Torsion dystonia, focal adult-onset;

Included titles and symbols : Cervical dystonia, primary;

Description : Idiopathic torsion dystonia (ITD) is a clinically and genetically heterogeneous group of movement disorders characterized by sustained dystonic muscle contractions causing involuntary twisting movements and/or postures, where causes such as cerebral lesions (especially of the basal ganglia), drugs, or other neurologic disorders have not been found. Adult-onset torsion dystonia usually remains focal and is localized in the upper part of the body (summary by Leube et al., 1996).;

Inheritance : Autosomal dominant;

Prefixed ID : %602124;

Details

Origin ID

602124;

UMLS CUI

C1865818;

Automatic exact mappings (from CISMeF team)
- cervical dystonia, primary [MeSH concept]
- cervical dystonia, primary [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Autosomal dominant focal dystonia, DYT7 type [ORDO Disease]
- torsion dystonia 7 [DO Concept]
- torsion dystonia 7 [MeSH concept]
DO Cross reference
- torsion dystonia 7 [DO Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Blepharospasm [HPO term]
- Clumsiness [HPO term]
- Cranial dystonia [HPO term]
- Dysphonia [HPO term]
- Hand tremor [HPO term]
- Oromandibular dystonia [HPO term]
- Skeletal muscle hypertrophy [HPO term]
- Torsion dystonia [HPO term]
- Torticollis [HPO term]
- Writer's cramp [HPO term]
ORDO concept(s)
- Autosomal dominant focal dystonia, DYT7 type [ORDO Disease]
- Cervical dystonia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant focal dystonia, DYT7 type [ORDO Disease]
- torsion dystonia 7 [MeSH concept]
- torsion dystonia 7 [DO Concept]

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