Torsion dystonia 2
Torsion dystonia 2
Definition
A dystonia characterized by segmental dystonia that predominantly affects the distal limbs and leads to abnormal posture. This disease has a progressive clinical course and may develop into generalized dystonia but remains mild overall.
Also known as autosomal recessive torsion dystonia 2, dystonic disorder caused by mutation in HPCA, DYT2, HPCA dystonic disorder, torsion dystonia type 2 — per MONDO
Also identified as
- DOID 0090038 per MONDO
- MESH C538006 per MONDO
- NCIT C123415 per MONDO
- OMIM 224500 per MONDO
- Orphanet 99657 per MONDO
- UMLS C1857093 per MONDO
Affected Organs
| Organ | Involvement | Source |
|---|---|---|
| Central nervous system | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Central nervous system | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |
| Nervous system | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Nervous system | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |