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dystonia 22, adult-onset - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

dystonia 22, adult-onset

MONDO:0957542

Overview

GeneticsAutosomal recessive · TSPOAP1 (chr 17)

ResearchLimited published research (8 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 always present findings: Torticollis, Focal dystonia, and Mental deterioration; and common findings: Babinski sign, Upper limb postural tremor, and Retrocollis. 8 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Difficulty walking (gait disturbance), Babinski sign, Upper limb postural tremor

Genetic Landscape

TSPOAP1 function has not been fully characterized.

Dystonia 22, adult-onset is associated with mutations in the TSPOAP1 gene on chromosome 17.

Diagnosis

Genetic testing for TSPOAP1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 3 common 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 22, adult-onset.

8 publications have been identified in PubMed for dystonia 22, adult-onset. Research spans Epidemiology / Natural History (63%), Case Report / Case Series (25%), and Basic Science / Preclinical (13%).

Recent Publications

Poplawska-Domaszewicz K (2026). [PMID: 41553471](https://pubmed.ncbi.nlm.nih.gov/41553471/). *J Neural Transm (Vienna)*. [Epidemiology / Natural History]
Junker J (2025). [PMID: 41016940](https://pubmed.ncbi.nlm.nih.gov/41016940/). *J Neurol*. [Epidemiology / Natural History]
Velucci V (2025). [PMID: 41091203](https://pubmed.ncbi.nlm.nih.gov/41091203/). *J Neural Transm (Vienna)*. [Epidemiology / Natural History]
Koren TJ (2025). [PMID: 40846501](https://pubmed.ncbi.nlm.nih.gov/40846501/). *BMJ Case Rep*. [Case Report / Case Series]
Ying T (2024). [PMID: 39211814](https://pubmed.ncbi.nlm.nih.gov/39211814/). *Front Neurol*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 10:43 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620456

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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dystonia 22, adult-onset

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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