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spinocerebellar ataxia, autosomal recessive 32 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spinocerebellar ataxia, autosomal recessive 32

MONDO:0859245

Overview

GeneticsAutosomal recessive · PRDX3 (chr 10)

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 always present findings: Shrinkage of the cerebellum (cerebellar atrophy), Dysarthria, Gait ataxia, and Limb ataxia; and very common findings: Difficulty swallowing (dysphagia), Saccadic smooth pursuit interruptions, and Hypermetric saccades. 17 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	8	Difficulty swallowing (dysphagia), Slowness of movement (bradykinesia), Dysarthria

Genetic Landscape

PRDX3 function has not been fully characterized.

Spinocerebellar ataxia, autosomal recessive 32 is associated with mutations in the PRDX3 gene on chromosome 10.

Diagnosis

Genetic testing for PRDX3 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 4 always present features, 3 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 spinocerebellar ataxia, autosomal recessive 32.

10 publications have been identified in PubMed for spinocerebellar ataxia, autosomal recessive 32. Research spans Case Report / Case Series (40%), Clinical Trial Publication (20%), and Basic Science / Preclinical (20%).

Research Type	Count	% of Total
Patient case studies	4	40%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 10:32 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619862

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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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Kisho

spinocerebellar ataxia, autosomal recessive 32

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

spinocerebellar ataxia, autosomal recessive 32

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications