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

Rare Disease

dystonia 22, juvenile-onset

MONDO:0957539

Overview

GeneticsAutosomal recessive · TSPOAP1 (chr 17)

OnsetADULT

ResearchLimited published research (1 article)

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, Shrinkage of the cerebellum (cerebellar atrophy), Dysarthria, and Oromandibular dystonia and others; and common findings: Bilateral tonic-clonic seizure, Hypometric saccades, Dysmetria, and Dysdiadochokinesis and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	8	Bilateral tonic-clonic seizure, Dysarthria, Lower limb spasticity

Genetic Landscape

TSPOAP1 function has not been fully characterized.

Dystonia 22, juvenile-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: 7 always present features, 7 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, juvenile-onset.

1 publication has been identified in PubMed for dystonia 22, juvenile-onset. Research spans Review / Meta-Analysis (100%).

Recent Publications

Alshimemeri S (2024). [PMID: 39618416](https://pubmed.ncbi.nlm.nih.gov/39618416/). *Can J Neurol Sci*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:08 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620453

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, juvenile-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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