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myoclonic cerebellar dyssynergia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

myoclonic cerebellar dyssynergia

MONDO:0008945

Also known as:cerebelloparenchymal disorder type 5dyssynergia cerebellaris myoclonicamyoclonus and ataxia

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Overview

A condition marked by progressive cerebellar ataxia combined with myoclonus usually presenting in the third decade of life or later. Additional clinical features may include generalized and focal seizures, spasticity, and dyskinesias. Autosomal recessive and autosomal dominant patterns of inheritance have been reported. Pathologically, the dentate nucleus and brachium conjunctivum of the cerebellum are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (From Joynt, Clinical Neurology, 1991, Ch37, pp60-1)

GeneticsAutosomal recessive

Clinical Trials1 registered

Patient Orgs1 organizations · Ramsay Hunt Syndrome Foundation

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: Ataxia, Atrophy of the dentate nucleus, and Sudden, brief involuntary muscle jerks (myoclonus).

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

Diagnosis

Biomarker and diagnostic research for myoclonic cerebellar dyssynergia 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. Interventions under study include medical devices. Pipeline includes 1 NA. Research is primarily industry-sponsored.

114 publications have been identified in PubMed for myoclonic cerebellar dyssynergia. Kisho has analyzed 53 by research type. Research spans Review / Meta-Analysis (32%), Epidemiology / Natural History (25%), and Basic Science / Preclinical (13%).

Research Type	Count	% of Total
Research summaries	17

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 10:53 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Patient Support

Patient Advocacy Groups

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Ramsay Hunt Syndrome FoundationPrimary Focus

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Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.

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Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:159700 OMIM:213400

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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?
→How can I connect with Ramsay Hunt Syndrome Foundation and other patient organizations for support?

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Kisho

myoclonic cerebellar dyssynergia

Overview

Clinical Presentation

Diagnosis

Research Landscape

Patient Support

Patient Advocacy Groups

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

myoclonic cerebellar dyssynergia

Overview

Clinical Presentation

Diagnosis

Research Landscape

Patient Support

Patient Advocacy Groups

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications