Progressive myoclonic epilepsy type 1
Synonyms: EPM1 | Progressive myoclonus epilepsy type 1 | ULD | Unverricht-Lundborg disease
A rare progressive myoclonic epilepsy (PME) disorder characterized by action- and stimulus-sensitive myoclonus and tonic-clonic seizures with ataxia but with only a mild cognitive decline over time.
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 April 2024
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Progressive myoclonic epilepsy type 1?
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Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Genetic Epilepsy Team Australia
Collaboration of research and care
Hope for ULD
Our mission is to improve the lives of those affected by Unverricht-Lundborg Disease by funding research, treatment, and education.
Mickie?s Miracles
To help families get into Level IV Pediatric Epilepsy Centers for diagnosis and treatment urgently -- and provide support to families for every season of the pediatric epilepsy journey.
Moonshots for Unicorns
Curing single-gene disorders
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
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.