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torsion dystonia 2 (DYT2) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

torsion dystonia 2

MONDO:0009141

Also known as:DYT2HPCA dystonic disorderautosomal recessive torsion dystonia 2

Overview

A dystonia characterized by segmental dystonia that predominantly affects the distal limbs and leads to abnormal posture. This disease has a progressive clinical course and may develop into generalized dystonia but remains mild overall.

GeneticsAutosomal recessive · HPCA (chr 1)

ResearchLimited published research (2 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: Torsion dystonia; and common findings: Torticollis, Difficulty swallowing (dysphagia), Dysarthria, and Blepharospasm. 6 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Difficulty swallowing (dysphagia), Dysarthria, Torsion dystonia

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

HPCA encodes hippocalcin (193 aa). Calcium-binding protein that may play a role in the regulation of voltage-dependent calcium channels. Highest expression in Brain Caudate basal ganglia (825.3 TPM) and Brain Putamen basal ganglia (677.6 TPM).

Torsion dystonia 2 is associated with mutations in the HPCA gene on chromosome 1.

HPCA is classified as a druggable target (Kinase category) with score 17.4.

Diagnosis

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

Prognosis

Phenotype severity distribution: 1 always present feature, 4 common features.

Estimated prevalence: Unknown (Unknown prevalence).

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 2.

2 publications have been identified in PubMed for torsion dystonia 2. Research spans Case Report / Case Series (50%) and Basic Science / Preclinical (50%).

Recent Publications

Nou-Fontanet L (2025). [PMID: 40884872](https://pubmed.ncbi.nlm.nih.gov/40884872/). *Pediatr Neurol*. [Case Report / Case Series]
Atasu B (2024). [PMID: 38458754](https://pubmed.ncbi.nlm.nih.gov/38458754/). *J Med Genet*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 3:04 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:224500

Orphanet

European rare disease database

Orphanet:99657

GARD

Genetic and Rare Diseases Info Center

GARD:2028

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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torsion dystonia 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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