Learn About Progressive Myoclonic Epilepsy

What is the definition of Progressive Myoclonic Epilepsy?
Progressive myoclonus epilepsy (PME) refers to a group of inherited conditions involving the central nervous system and representing more than a dozen different diseases. These diseases share certain features, including a worsening of symptoms over time and the presence of both muscle contractions (myoclonus) and seizures (epilepsy). PME is different from myoclonic epilepsy. Other features include dementia, dystonia, and trouble walking or speaking. These rare disorders often get worse over time. Many of these PME diseases begin in childhood or adolescence.
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What are the alternative names for Progressive Myoclonic Epilepsy?
  • Progressive myoclonic epilepsy
  • Familial progressive myoclonic epilepsy
Who are the top Progressive Myoclonic Epilepsy Local Doctors?
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What are the latest Progressive Myoclonic Epilepsy Clinical Trials?
Global Mitochondrial Registry to Define Natural History and Outcome Measures to Achieve Definite Trial Readiness for Mitochondrial Disorders

Summary: The main goal of the project is provison of a global registry for mitochondrial disorders to harmonize previous national registries, enable world-wide participation and facilitate natural history studies, definition of outcome measures and conduction of clinical trials.

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Who are the sources who wrote this article ?

Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center

What are the Latest Advances for Progressive Myoclonic Epilepsy?
Lafora body disease: a case of progressive myoclonic epilepsy.
Medical management of a child with congenital generalized lipodystrophy accompanied with progressive myoclonic epilepsy: A case report.
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An Italian multicentre study of perampanel in progressive myoclonus epilepsies.