Torsion dystonia 6
Torsion dystonia 6
Definition
Primary dystonia DYT6 type is characterized by focal, predominantly cranio-cervical dystonia with dysarthria and dysphagia, or limb dystonia in some cases.
Also known as DYT-THAP1, DYT6, generalised cervical and upper-limb-onset dystonia, generalised isolated dystonia caused by mutation in THAP1, generalized cervical and upper-limb-onset dystonia, generalized isolated dystonia caused by mutation in THAP1, idiopathic torsion dystonia of mixed type, THAP1 generalised isolated dystonia, THAP1 generalized isolated dystonia, torsion dystonia type 6 — per MONDO
Also identified as
- DOID 0090039 per MONDO
- MESH C538003 per MONDO
- NCIT C156361 per MONDO
- OMIM 602629 per MONDO
- Orphanet 98806 per MONDO
- SCTID 702448007 per MONDO
- UMLS C1414216 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 |