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GTR Home > Conditions/Phenotypes > Spinocerebellar ataxia, autosomal recessive 32

Spinocerebellar ataxia, autosomal recessive 32

Summary

Autosomal recessive spinocerebellar ataxia-32 (SCAR32) is a neurologic disorder characterized by the onset of gait ataxia in the second or third decades of life. The disorder is slowly progressive. Other classic features include upper limb ataxia, oculomotor signs, dysphagia, and dysarthria. Some patients may have hyper- or hypokinetic movement abnormalities. Brain imaging shows cerebellar atrophy (Rebelo et al., 2021). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: AOP-1, AOP1, HBC189, MER5, PPPCD, PRO1748, SCAR32, SP-22, prx-III, PRDX3
    Summary: peroxiredoxin 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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