Progressive myoclonic epilepsy type 6

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Name:
Progressive myoclonic epilepsy type 6
Description:
A rare, genetic, neurological disorder characterized by early-onset, progressive ataxia associated with myoclonic seizures (frequently associated with other seizure types such as generalized tonic-clonic, absence and drop attacks), scoliosis of variable severity, areflexia, elevated creatine kinase serum levels, and relative preservation of cognitive function until late in the disease course.
ORPHAcode:
280620
Synonyms:
EPM6
GOSR2-related progressive myoclonus ataxia
North Sea progressive myoclonus epilepsy
PME type 6
Progressive myoclonus epilepsy type 6
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Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14