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dystonia 16 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

dystonia 16

MONDO:0012789

Also known as:DYT-PRKRADYT16PRKRA dystonic disorder

Overview

Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism.

GeneticsAutosomal recessive · PRKRA (chr 2)

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: Generalized dystonia and Limb dystonia; and common findings: Parkinsonism and Abnormal pyramidal sign. 21 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	15	Slowness of movement (bradykinesia), Laryngeal dystonia, Difficulty with thinking and memory (cognitive impairment)

Genetic Landscape

PRKRA function has not been fully characterized.

Dystonia 16 is associated with mutations in the PRKRA gene on chromosome 2.

Diagnosis

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

Biomarker and diagnostic research for dystonia 16 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present features, 2 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 16.

66 publications have been identified in PubMed for dystonia 16. Research spans Case Report / Case Series (32%), Clinical Trial Publication (26%), and Review / Meta-Analysis (18%).

Research Type	Count	% of Total
Patient case studies	21	32%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 12:35 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:612067

Orphanet

European rare disease database

Orphanet:210571

GARD

Genetic and Rare Diseases Info Center

GARD:10539

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 16

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dystonia 16

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

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