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Progressive myoclonic epilepsy type 6
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.
ORPHA:280620
Classification level: Disorder
- EPM6
- GOSR2-related progressive myoclonus ataxia
- North Sea progressive myoclonus epilepsy
- PME type 6
- Progressive myoclonus epilepsy type 6
Prevalence: <1 / 1 000 000
Inheritance: Autosomal recessive
Age of onset: Childhood
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)
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