Progressive myoclonic epilepsy type 6

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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. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

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Progressive myoclonic epilepsy type 6?

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Advocacy Organizations

Pediatric Epilepsy Research Consortium

The Pediatric Epilepsy Research Consortium (PERC) is a group of US pediatric epilepsy centers, researchers and professionals in field of epilepsy whose goal is to provide a network and infrastructure to facilitate collegial, collaborative practice-changing research that will provide answers needed to improve the care of children with epilepsy.

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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Clinical Trials

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