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Definition

An autosomal recessive syndrome characterized by headaches and/or seizures manifesting in childhood or adolescence, cerebellar and sensory ataxia, dysarthria, and myoclonus manifesting in early adulthood. Neuropathological findings include spinocerebellar degeneration associated with cortical neuronal degeneration in advanced cases.

Acronym

SCAE

Synonyms

Epilepsy, progressive myoclonic 5
EPM5
Progressive myoclonic epilepsy with sensory ataxic neuropathy

Keywords

Neurodegeneration
Neuropathy
Epilepsy

 
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