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torsion dystonia 17 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

torsion dystonia 17

MONDO:0012895

Also known as:dystonia-17, primary torsiontorsion dystonia type 17DYT17

Overview

A dystonia characterized by autosomal recessive inheritance of progressive dystonia, dysphonia, dysarthria and neck torticollis that has material basis in variation in the chromosome region 20p11.2-q13.12.

GeneticsAutosomal recessive

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Dysphonia, Dysarthria, and Generalized dystonia; and common findings: Torticollis and Craniofacial dystonia. 6 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Dysphonia, Dysarthria, Focal dystonia

Diagnosis

Biomarker and diagnostic research for torsion dystonia 17 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 very common features, 2 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for torsion dystonia 17.

103 publications have been identified in PubMed for torsion dystonia 17. Research spans Review / Meta-Analysis (37%), Case Report / Case Series (18%), and Epidemiology / Natural History (14%).

Research Type	Count	% of Total
Research summaries	31	37%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:16 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:612406

Orphanet

European rare disease database

Orphanet:370103

GARD

Genetic and Rare Diseases Info Center

GARD:10536

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

torsion dystonia 17

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

Post-operative stun effect captured by local field potentials correlates to temporary symptom relief in an adolescent with dystonia: A case report.

Rare - Dystonia Europe

Rare-Variant Burden Analysis of Dystonia Genes in Parkinson's Disease.

Dystonia as an early and prominent feature in a patient with CYP2U1 gene mutation: expanding the phenotype of SPG56-a case report.

With $100M, Vima pursues an oral drug for movement disorders

torsion dystonia 17

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

Post-operative stun effect captured by local field potentials correlates to temporary symptom relief in an adolescent with dystonia: A case report.

Rare - Dystonia Europe

Rare-Variant Burden Analysis of Dystonia Genes in Parkinson's Disease.

Dystonia as an early and prominent feature in a patient with CYP2U1 gene mutation: expanding the phenotype of SPG56-a case report.

With $100M, Vima pursues an oral drug for movement disorders