Lafora Disease Overview

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Learn About Lafora Disease

What is the definition of Lafora Disease?
Lafora disease is an inherited, severe form of progressive myoclonus epilepsy. The condition most commonly begins with epileptic seizures in late childhood or adolescence. Other signs and symptoms include difficulty walking, muscle spasms (myoclonus) and dementia. Affected people also experience rapid cognitive deterioration that begins around the same time as the seizures. Most cases are caused by changes in either the EPM2A gene or the NHLRC1 gene and are inherited in an autosomal recessive manner.
What are the alternative names for Lafora Disease?
  • Lafora disease
  • EPM2
  • Epilepsy progressive myoclonic 2
  • Lafora body disorder
  • MELF
  • Myoclonic epilepsy of Lafora
Who are the top Lafora Disease Local Doctors?
Elite in Lafora Disease
Samuel F. Berkovic
Elite in Lafora Disease
Samuel F. Berkovic
245 Burgundy St, 
Heidelberg, VIC, AU 

Samuel Berkovic practices in Heidelberg, Australia. Mr. Berkovic and is rated as an Elite expert by MediFind in the treatment of Lafora Disease. His top areas of expertise are Myoclonic Epilepsy, Epilepsy, Partial Familial Epilepsy, and Epilepsy with Myoclonic-Atonic Seizures.

Elite in Lafora Disease
Reetta K. Kalviainen
Elite in Lafora Disease
Reetta K. Kalviainen
Box 100, KYS, 
Kuopio, FI 

Reetta Kalviainen practices in Kuopio, Finland. Kalviainen and is rated as an Elite expert by MediFind in the treatment of Lafora Disease. Their top areas of expertise are Unverricht-Lundborg Syndrome, Dentatorubral-Pallidoluysian Atrophy, Lafora Disease, and Myoclonic Epilepsy.

 
 
 
 
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Elite in Lafora Disease
Laura Canafoglia
Elite in Lafora Disease
Laura Canafoglia
Milan, IT 

Laura Canafoglia practices in Milan, Italy. Ms. Canafoglia and is rated as an Elite expert by MediFind in the treatment of Lafora Disease. Her top areas of expertise are Myoclonic Epilepsy, Dentatorubral-Pallidoluysian Atrophy, Lafora Disease, Epilepsy with Myoclonic-Atonic Seizures, and Gastrostomy.

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What are the latest Lafora Disease Clinical Trials?
Global Mitochondrial Registry to Define Natural History and Outcome Measures to Achieve Definite Trial Readiness for Mitochondrial Disorders
Global Mitochondrial Registry to Define Natural History and Outcome Measures to Achieve Definite Trial Readiness for Mitochondrial Disorders
Enrollment Status: Recruiting
Publish Date: June 05, 2025

Summary: The main goal of the project is provision 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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CureDRPLA Global Patient Registry for Individuals With Dentatorubral-pallidoluysian Atrophy (DRPLA)
CureDRPLA Global Patient Registry for Individuals With Dentatorubral-pallidoluysian Atrophy (DRPLA)
Enrollment Status: Recruiting
Publish Date: February 11, 2025

Summary: The objective of the CureDRPLA Global Patient Registry is to establish a longitudinal database of patient-reported data on individuals affected with Dentatorubral-pallidoluysian atrophy (DRPLA) from anywhere in the world. The CureDRPLA Global Patient Registry will address patient needs by: * Expanding patient engagement by documenting quality of life outcomes. * Providing anonymized data to the DR...

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