Progressive myoclonic epilepsy type 6
Synonyms: EPM6 | GOSR2-related progressive myoclonus ataxia | North Sea progressive myoclonus epilepsy | PME type 6 | Progressive myoclonus 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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Progressive myoclonic epilepsy type 6?
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