Progressive myoclonic epilepsy type 5

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Name:
Progressive myoclonic epilepsy type 5
Description:
A rare, genetic neurological disorder characterized by early-onset progressive ataxia associated with myoclonic seizures, generalized tonic-clonic seizures (which are often sleep-related), and normal to mild intellectual disability. Dysarthria, upward gaze palsy, sensory neuropathy, developmental delay and autistic disorder have also been associated.
ORPHAcode:
402082
Synonyms:
EPM5
PME type 5
Progressive myoclonus epilepsy type 5
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Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14