Lafora Disease
Symptoms, Doctors, Treatments, Advances & More

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
Elite in Lafora Disease
Referral may be required
245 Burgundy St, 
Heidelberg, VIC, AU 

Samuel Berkovic practices practicing medicine in Heidelberg, Australia. Mr. Berkovic is rated as an Elite expert by MediFind in the treatment of Lafora Disease. He is also highly rated in 48 other conditions, according to our data. His clinical expertise encompasses Myoclonic Epilepsy, Epilepsy, Partial Familial Epilepsy, and Epilepsy with Myoclonic-Atonic Seizures.

Elite in Lafora Disease
Elite in Lafora Disease
Referral may be required
Box 100, KYS, 
Kuopio, FI 

Reetta Kalviainen practices practicing medicine in Kuopio, Finland. Kalviainen is rated as an Elite expert by MediFind in the treatment of Lafora Disease. They are also highly rated in 14 other conditions, according to our data. Their clinical expertise encompasses Unverricht-Lundborg Syndrome, Dentatorubral-Pallidoluysian Atrophy, Lafora Disease, and Myoclonic Epilepsy.

 
 
 
 
Learn about our expert tiers
Learn More
Elite in Lafora Disease
Elite in Lafora Disease
Referral may be required
Milan, IT 

Laura Canafoglia practices practicing medicine in Milan, Italy. Ms. Canafoglia is rated as an Elite expert by MediFind in the treatment of Lafora Disease. She is also highly rated in 28 other conditions, according to our data. Her clinical expertise encompasses Dentatorubral-Pallidoluysian Atrophy, Lafora Disease, Epilepsy with Myoclonic-Atonic Seizures, Myoclonic Epilepsy, and Gastrostomy.

View All Doctors
What are the latest Lafora Disease Clinical Trials?
Registry and Natural History Study for Progressive Myoclonus Epilepsy Type 1 (EPM1)
Registry and Natural History Study for Progressive Myoclonus Epilepsy Type 1 (EPM1)
Enrollment Status: Recruiting
Publish Date: March 18, 2026

Summary: The Registry and Natural History Study for Progressive Myoclonus Epilepsy Type 1 (EPM1) is focused on gathering longitudinal clinical data as well as biological samples (blood and/or urine) from male and female patients, of all ages, who have a molecular diagnosis of EPM1or CSTB-null-related disease. Currently, there are no therapies that halt disease progression in any CSTB-related diseases, high...

Match to trials
Find the right clinical trials for you in under a minute
Get started
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: March 17, 2026

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...

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