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myoclonus-cerebellar ataxia-deafness syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

myoclonus-cerebellar ataxia-deafness syndrome

MONDO:0008043

Also known as:myoclonus cerebellar ataxia deafnessmyoclonus, cerebellar ataxia, and deafness

Overview

This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss.

GeneticsAutosomal dominant

ResearchLimited published research (5 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: Hearing loss (hearing impairment), Ataxia, and Sudden, brief involuntary muscle jerks (myoclonus).

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

Prognosis

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 myoclonus-cerebellar ataxia-deafness syndrome.

5 publications have been identified in PubMed for myoclonus-cerebellar ataxia-deafness syndrome. Research spans Case Report / Case Series (80%) and Basic Science / Preclinical (20%).

Recent Publications

Abenza-Abildúa MJ (2025). [PMID: 40285998](https://pubmed.ncbi.nlm.nih.gov/40285998/). *Acta neurologica Belgica*. [Case Report / Case Series]
Tamura M (2025). [PMID: 40937613](https://pubmed.ncbi.nlm.nih.gov/40937613/). *Neurocase*. [Case Report / Case Series]
Unoki M (2025). [PMID: 40500184](https://pubmed.ncbi.nlm.nih.gov/40500184/). *Genes & genetic systems*. [Basic Science / Preclinical]
Xu Q (2025). [PMID: 40660553](https://pubmed.ncbi.nlm.nih.gov/40660553/). *Medicine*. [Case Report / Case Series]
Wu X (2024). [PMID: 38953026](https://pubmed.ncbi.nlm.nih.gov/38953026/). *Frontiers in immunology*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 9:47 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:159800

Orphanet

European rare disease database

Orphanet:2589

GARD

Genetic and Rare Diseases Info Center

GARD:3873

Questions for Your Care Team

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myoclonus-cerebellar ataxia-deafness syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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