Lafora Disease Overview

Save information for later
Sign Up

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 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 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.

 
 
 
 
Learn about our expert tiers
Learn More
Elite in Lafora Disease
Laura Canafoglia
Elite in Lafora Disease
Laura Canafoglia
Milan, IT 

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

View All Doctors
What are the latest Lafora Disease Clinical Trials?
North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)
North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)
Enrollment Status: Recruiting
Publish Date: February 04, 2026

Summary: The North American Mitochondrial Disease Consortium (NAMDC) maintains a patient contact registry and tissue biorepository for patients with mitochondrial disorders.

Match to trials
Find the right clinical trials for you in under a minute
Get started
A Phase 1/2 Open Label Study to Evaluate the Safety and Efficacy of Intrathecally Administered ION283 in Patients With Lafora Disease
A Phase 1/2 Open Label Study to Evaluate the Safety and Efficacy of Intrathecally Administered ION283 in Patients With Lafora Disease
Enrollment Status: Recruiting
Publish Date: December 18, 2025
Intervention Type: Genetic
Study Phase: Phase 1/Phase 2

Summary: This study will test the safety and efficacy of multiple doses of ION283 administered as intrathecal (IT) injections by lumbar puncture (LP). All subjects will receive ION283. The dose level of 15 mg will be studied in all subjects.

View All Clinical Trials
Who are the sources who wrote this article ?

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