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paroxysmal nonkinesigenic dyskinesia 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

paroxysmal nonkinesigenic dyskinesia 2

MONDO:0012629

Also known as:paroxysmal nonkinesigenic dyskinesia type 2PNKD2dystonia 20

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Overview

A dystonia characterized by autosomal dominant inheritance of attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation that has material basis in variation in the chromosome region 2q31.

GeneticsAutosomal dominant

Clinical Trials1 registered · 1 recruiting

Clinical Presentation

Features include sometimes findings: Migraine. 3 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	3	Paroxysmal dystonia, Seizure, Migraine

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Diagnosis

Biomarker and diagnostic research for paroxysmal nonkinesigenic dyskinesia 2 has been reported in the published literature.

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.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

155 publications have been identified in PubMed for paroxysmal nonkinesigenic dyskinesia 2. Research spans Basic Science / Preclinical (27%), Epidemiology / Natural History (21%), and Clinical Trial Publication (20%).

Research Type	Count	% of Total
Laboratory research	42

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:47 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:611147

GARD

Genetic and Rare Diseases Info Center

GARD:15510

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→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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paroxysmal nonkinesigenic dyskinesia 2

Overview

Clinical Presentation

Explore clinical features

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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