torsion dystonia 6
Findings
No curated finding names torsion dystonia 6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Primary dystonia DYT6 type is characterized by focal, predominantly cranio-cervical dystonia with dysarthria and dysphagia, or limb dystonia in some cases.
Definition from the Mondo Disease Ontology (MONDO:0011264), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
Features
11 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Limb dystoniaHPOHP:0002451
- 28 of 29 reported patients
- Very rare (1% to 4% of cases)
- DystoniaHPOHP:0001332
- Very frequent (80% to 99% of cases)
- Generalized dystoniaHPOHP:0007325
- Very frequent (80% to 99% of cases)
- DysarthriaHPOHP:0001260
- Frequent (30% to 79% of cases)
- TorticollisHPOHP:0000473
- 17 of 29 reported patients
- Occasional (5% to 29% of cases)
- Oromandibular dystoniaHPOHP:0012048
- 14 of 29 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- THAP1HGNC:20856
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · Laboratory for Molecular Medicine · Autosomal dominant · 2020
- Strong · PanelApp Australia · Semidominant · 2025
- Strong · G2P · Autosomal dominant · 2022
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
10 names
Resolves to: torsion dystonia 6
- Also called
- DYT-THAP1DYT6generalised cervical and upper-limb-onset dystoniageneralised isolated dystonia caused by mutation in THAP1generalized cervical and upper-limb-onset dystoniageneralized isolated dystonia caused by mutation in THAP1idiopathic torsion dystonia of mixed typeTHAP1 generalised isolated dystoniaTHAP1 generalized isolated dystoniatorsion dystonia type 6