Torsion dystonia 17
disease diseaseOn this page
Also known as dystonia 17, torsion, autosomal recessivedystonia-17, primary torsionDYT17torsion dystonia type 17
Summary
Torsion dystonia 17 (MONDO:0012895) is a disease. A subtype of focal, segmental or multifocal dystonia — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
- Phenotypes (HPO): 7
Clinical features
Epidemiology
Prevalence records
2 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Cases/families | 3 | Worldwide | Validated | |
| Point prevalence | <1 / 1 000 000 | Worldwide | Validated |
Signs & symptoms
Clinical features (HPO)
7 HPO clinical features (Orphanet curated; top 7 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001260 | Dysarthria | Very frequent (80-99%) |
| HP:0001618 | Dysphonia | Very frequent (80-99%) |
| HP:0007325 | Generalized dystonia | Very frequent (80-99%) |
| HP:0000473 | Torticollis | Frequent (30-79%) |
| HP:0012179 | Craniofacial dystonia | Frequent (30-79%) |
| HP:0001300 | Parkinsonism | Excluded (0%) |
| HP:0002120 | Cerebral cortical atrophy | Excluded (0%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | torsion dystonia 17 |
| Mondo ID | MONDO:0012895 |
| MeSH | C567319 |
| OMIM | 612406 |
| Orphanet | 370103 |
| DOID | DOID:0090042 |
| UMLS | C2676281 |
| MedGen | 391003 |
| GARD | 0010536 |
| Is cancer (heuristic) | no |
Also known as: dystonia 17, torsion, autosomal recessive · dystonia-17, primary torsion · DYT17 · torsion dystonia type 17
Disease family
This is a subtype of focal, segmental or multifocal dystonia. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › nervous system disorder › movement disorder › extrapyramidal and movement disease › dystonic disorder › inherited dystonia › isolated dystonia › focal, segmental or multifocal dystonia › torsion dystonia 17
Related subtypes (11): torsion dystonia 4, torsion dystonia 2, torsion dystonia 13, dystonia 23, dystonia 24, dystonia 25, dystonia 27, oromandibular dystonia, blepharospasm-oromandibular dystonia syndrome, infantile-onset generalized dyskinesia with orofacial involvement, adult-onset segmental dystonia
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.