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myoclonic dystonia 15 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

myoclonic dystonia 15

MONDO:0011844

Also known as:dystonia-15, myoclonicmyoclonic dystonia type 15DYT15

Overview

A myoclonic dystonia characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 18p11.

GeneticsAutosomal dominant

ResearchLimited published research (6 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: Writer's cramp, Dystonia, and Sudden, brief involuntary muscle jerks (myoclonus).

Organ System	Phenotype Count	Example Features
Brain and nerves	2	Dystonia, Sudden, brief involuntary muscle jerks (myoclonus)
Muscles

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 myoclonic dystonia 15.

6 publications have been identified in PubMed for myoclonic dystonia 15. Research spans Case Report / Case Series (50%), Basic Science / Preclinical (33%), and Epidemiology / Natural History (17%).

Recent Publications

Thomsen M (2026). [PMID: 41874815](https://pubmed.ncbi.nlm.nih.gov/41874815/). *Cerebellum*. [Case Report / Case Series]
Caputo D (2026). [PMID: 42111075](https://pubmed.ncbi.nlm.nih.gov/42111075/). *Front Neurol*. [Epidemiology / Natural History]
Sedov A (2025). [PMID: 39631221](https://pubmed.ncbi.nlm.nih.gov/39631221/). *Parkinsonism & related disorders*. [Basic Science / Preclinical]
Rossi RV (2025). [PMID: 40017527](https://pubmed.ncbi.nlm.nih.gov/40017527/). *Epilepsy Behav Rep*. [Case Report / Case Series]
Carson RP (2025). [PMID: 40317695](https://pubmed.ncbi.nlm.nih.gov/40317695/). *Mov Disord Clin Pract*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:607488

Orphanet

European rare disease database

Orphanet:210566

GARD

Genetic and Rare Diseases Info Center

GARD:9629

Questions for Your Care Team

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myoclonic dystonia 15

Overview

Clinical Presentation

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

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