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torsion dystonia 7 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

torsion dystonia 7

MONDO:0011200

Also known as:dystonia-7, torsiontorsion dystonia type 7DYT7

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Overview

A focal dystonia characterized by predominately cervical dystonia that has material basis in variation in the chromosome region 18p.

GeneticsAutosomal dominant

Clinical Trials1 registered

ResearchLimited published research (4 articles)

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: Torticollis, Clumsiness, Writer's cramp, and Hand tremor and 5 more.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Clumsiness, Hand tremor, Dysphonia
Muscles

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.

1 clinical trial registered. Interventions under study include drug therapy. Pipeline includes 1 PHASE4. Research is primarily sponsored by academic and government institutions.

4 publications have been identified in PubMed for torsion dystonia 7. Research spans Clinical Trial Publication (50%) and Basic Science / Preclinical (50%).

Recent Publications

He C (2025). [PMID: 39593234](https://pubmed.ncbi.nlm.nih.gov/39593234/). *Animal genetics*. [Basic Science / Preclinical]
Remore LG (2025). [PMID: 40374982](https://pubmed.ncbi.nlm.nih.gov/40374982/). *Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology*. [Clinical Trial Publication]
Wei T (2025). [PMID: 39936204](https://pubmed.ncbi.nlm.nih.gov/39936204/). *Journal of the College of Physicians and Surgeons--Pakistan : JCPSP*. [Clinical Trial Publication]
Pan K (2024). [PMID: 38123503](https://pubmed.ncbi.nlm.nih.gov/38123503/). *The European journal of neuroscience*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 2:57 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:602124

Orphanet

European rare disease database

Orphanet:93963

GARD

Genetic and Rare Diseases Info Center

GARD:7782

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
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torsion dystonia 7

Overview

Clinical Presentation

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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