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dystonia 32 (DYT32) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

dystonia 32

MONDO:0030486

Also known as:DYT32

Overview

GeneticsAutosomal recessive · VPS11 (chr 11)

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 always present findings: Torticollis, Difficulty swallowing (dysphagia), Lower limb hyperreflexia, and Limb dystonia and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	6	Difficulty swallowing (dysphagia), Lower limb hyperreflexia, Limb dystonia

Genetic Landscape

VPS11 function has not been fully characterized.

Dystonia 32 is associated with mutations in the VPS11 gene on chromosome 11.

Diagnosis

Genetic testing for VPS11 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for dystonia 32 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 8 always present features.

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 dystonia 32.

121 publications have been identified in PubMed for dystonia 32. Research spans Clinical Trial Publication (22%), Case Report / Case Series (17%), and Review / Meta-Analysis (16%).

Research Type	Count	% of Total
Clinical study results	27	22%

Data assembled from 5 of 12 sources · Last updated Sep 17, 2026, 8:34 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619637

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

dystonia 32

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

dystonia 32

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications