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early-onset cerebellar ataxia with retained tendon reflexes (EOCA) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

early-onset cerebellar ataxia with retained tendon reflexes

MONDO:0008938

Also known as:EOCAEOCARRHarding ataxia

Find Clinical TrialsTrials

Overview

Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss.

Clinical Trials1 registered · 1 recruiting

Diagnosis

Biomarker and diagnostic research for early-onset cerebellar ataxia with retained tendon reflexes has been reported in the published literature.

Prognosis

Estimated prevalence: 1-9 in 100,000 (Uncommon).

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.

22 publications have been identified in PubMed for early-onset cerebellar ataxia with retained tendon reflexes. Research spans Basic Science / Preclinical (27%), Epidemiology / Natural History (27%), and Diagnostic / Biomarker (18%).

Research Type	Count	% of Total
Laboratory research	6

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 1:48 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:212895

Orphanet

European rare disease database

Orphanet:1177

GARD

Genetic and Rare Diseases Info Center

GARD:2600

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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early-onset cerebellar ataxia with retained tendon reflexes

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications