Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

myoclonic dystonia 26 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

myoclonic dystonia 26

MONDO:0014620

Also known as:KCTD17 myoclonus-dystonia syndromemyoclonic dystonia type 26myoclonus-dystonia syndrome caused by mutation in KCTD17

Overview

Any myoclonus-dystonia syndrome in which the cause of the disease is a mutation in the KCTD17 gene.

GeneticsAutosomal dominant · KCTD17 (chr 22)

ResearchLimited published research (7 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 very common findings: Dystonia and Sudden, brief involuntary muscle jerks (myoclonus); and common findings: Torticollis and Blepharospasm. 9 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Dystonia, Dysarthria, Laryngeal dystonia

Explore clinical features

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.

KCTD17 encodes potassium channel tetramerization domain containing 17 (314 aa). Substrate-adapter for CUL3-RING ubiquitin ligase complexes which mediates the ubiquitination and subsequent proteasomal degradation of TCHP, a protein involved in ciliogenesis down-regulation. Highest expression in Brain Caudate basal ganglia (112.4 TPM) and Brain Putamen basal ganglia (103.4 TPM).

Myoclonic dystonia 26 is associated with mutations in the KCTD17 gene on chromosome 22.

KCTD17 is classified as a druggable target (Enzyme category) with score 0.0.

Diagnosis

Genetic testing for KCTD17 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 very common features, 2 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 myoclonic dystonia 26.

7 publications have been identified in PubMed for myoclonic dystonia 26. Research spans Case Report / Case Series (29%), Basic Science / Preclinical (29%), and Review / Meta-Analysis (14%).

Recent Publications

Krygier M (2026). [PMID: 41982418](https://pubmed.ncbi.nlm.nih.gov/41982418/). *Front Neurol*. [Basic Science / Preclinical]
Lin Y (2026). [PMID: 41969642](https://pubmed.ncbi.nlm.nih.gov/41969642/). *Tremor Other Hyperkinet Mov (N Y)*. [Review / Meta-Analysis]
Stodulska O (2025). [PMID: 40869056](https://pubmed.ncbi.nlm.nih.gov/40869056/). *International journal of molecular sciences*. [Case Report / Case Series]
Zech M (2025). [PMID: 39937650](https://pubmed.ncbi.nlm.nih.gov/39937650/). *Brain : a journal of neurology*. [Basic Science / Preclinical]
Brooker SM (2025). [PMID: 40590478](https://pubmed.ncbi.nlm.nih.gov/40590478/). *Annals of neurology*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 3:01 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616398

GARD

Genetic and Rare Diseases Info Center

GARD:16103

Questions for Your Care Team

→Should I pursue genetic testing for KCTD17, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

myoclonic dystonia 26

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team