National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Lafora disease


Other Names:
Lafora body disorder; Epilepsy progressive myoclonic 2; EPM2; Lafora body disorder; Epilepsy progressive myoclonic 2; EPM2; Myoclonic epilepsy of Lafora; MELF See More
Categories:
This disease is grouped under:
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. The condition is often fatal within 10 years of onset. Most cases are caused by changes (mutations) in either the EPM2A gene or the NHLRC1 gene and are inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.[1][2][3]
Last updated: 9/29/2015
The signs and symptoms of Lafora disease generally appear during late childhood or adolescence. Prior to the onset of symptoms, affected children appear to have normal development although some may have isolated febrile or nonfebrile convulsions in infancy or early childhood.[2]

The most common feature of Lafora disease is recurrent seizures. Several different types of seizures have been reported including generalized tonic-clonic seizures, occipital seizures (which can cause temporary blindness and visual hallucinations) and myoclonic seizures. These seizures are considered "progressive" because they generally become worse and more difficult to treat over time.[1][2]

With the onset of seizures, people with Lafora disease often begin showing signs of cognitive decline. This may include behavioral changes, depression, confusion, ataxia (difficulty controlling muscles), dysarthria, and eventually, dementia. By the mid-twenties, most affected people lose the ability to perform the activities of daily living; have continuous myoclonus; and require tube feeding and comprehensive care.[1][2]
Last updated: 9/27/2015

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
100% of people have these symptoms
Lafora bodies 0100318
30%-79% of people have these symptoms
Ataxia 0001251
Confusion
Disorientation
Easily confused
Mental disorientation
[ more ] 		0001289
Dementia
Dementia, progressive
Progressive dementia
[ more ] 		0000726
Depressivity
Depression
0000716
Dysarthria
Difficulty articulating speech
0001260
Emotional lability
Emotional instability
0000712
Erratic myoclonus 0025357
Generalized myoclonic seizure 0002123
Giant somatosensory evoked potentials 0001312
Headache
Headaches
0002315
Hypsarrhythmia 0002521
Inability to walk 0002540
Nasogastric tube feeding 0040288
Recurrent aspiration pneumonia 0002100
Spasticity
Involuntary muscle stiffness, contraction, or spasm
0001257
Status epilepticus
Repeated seizures without recovery between them
0002133
Visual hallucinations 0002367
5%-29% of people have these symptoms
Atonic seizure 0010819
Atypical absence seizure 0007270
Bilateral tonic-clonic seizure with focal onset 0007334
Brain atrophy
Brain degeneration
Brain wasting
[ more ] 		0012444
Focal impaired awareness seizure 0002384
Focal sensory seizure with visual features 0011165
Hepatic failure
Liver failure
0001399
Severe photosensitivity
Severe sun sensitivity
0007537
Sleep disturbance
Difficulty sleeping
Trouble sleeping
[ more ] 		0002360
Vegetative state 0031358
Percent of people who have these symptoms is not available through HPO
Apraxia 0002186
Autosomal recessive inheritance 0000007
Cutaneous photosensitivity
Photosensitive skin
Photosensitive skin rashes
Photosensitivity
Sensitivity to sunlight
Skin photosensitivity
Sun sensitivity
[ more ] 		0000992
Gait disturbance
Abnormal gait
Abnormal walk
Impaired gait
[ more ] 		0001288
Generalized non-motor (absence) seizure
Brief seizures with staring spells
0002121
Myoclonus 0001336
Progressive neurologic deterioration
Worsening neurological symptoms
0002344
Psychosis 0000709
Rapidly progressive
Worsening quickly
0003678
Visual loss
Loss of vision
Vision loss
[ more ] 		0000572
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Last updated: 7/1/2020
Most cases of Lafora disease are caused by changes (mutations) in either the EPM2A gene or the NHLRC1 gene. These genes encode proteins that play a critical role in the survival of nerve cells (neurons) in the brain. Although the proteins are thought to have many functions in the body, one important role is to help regulate the production of a complex sugar called glycogen (an important source of stored energy in the body). Mutations in the EPM2A gene or the NHLRC1 gene interfere with the production of functional proteins, leading to the formation of Lafora bodies (clumps of abnormal glycogen that cannot be broken down and used for fuel) within cells. A build up of Lafora bodies appears to be especially toxic to the cells of the nervous system and leads to the signs and symptoms of Lafora disease.[1]
Last updated: 9/28/2015
Lafora disease is inherited in an autosomal recessive manner.[2] This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.
Last updated: 9/28/2015
A diagnosis of Lafora disease is often suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis and rule out other conditions that may cause similar features. For example, a skin biopsy may be performed to detect "Lafora bodies" (clumps of abnormal glycogen that cannot be broken down and used for fuel) which are found in most people with the condition. Genetic testing for changes (mutations) in either the EPM2A gene or the NHLRC1 gene may be used to confirm the diagnosis in some cases. An EEG and an MRI of the brain are generally recommended in all people with recurrent seizures and are useful in investigating other conditions in the differential diagnosis.[2][3]

GeneReview's Web site offers more specific information regarding the diagnosis of Lafora disease. Please click on the link to access this resource.
Last updated: 9/28/2015

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Unfortunately, there is currently no cure or way to slow the progression of Lafora disease. Treatment is based on the signs and symptoms present in each person. For example, certain medications may be recommended to manage generalized seizures. In the advanced stages of the condition, a gastrostomy tube may be placed for feeding. Drugs that are known to worsen myoclonus (i.e. phenytoin) should be avoided.[2][3]

Last updated: 9/28/2015
The long-term outlook (prognosis) for people with Lafora disease is unfortunately poor. There is currently no cure for the condition and it is considered progressive (symptoms worsen over time). By the mid-twenties, most affected people lose the ability to perform the activities of daily living; have continuous myoclonus; and require tube feeding and comprehensive care. On average, affected people survive approximately 10 years after the onset of symptoms.[1][2]
Last updated: 9/28/2015

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Lafora disease. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Lafora disease. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Lafora disease. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • Have there been any advances that suggest anything can slow the progression of disease? Why is there so little information on this disease? Are there any other resources that show up to date information? See answer

  • Is a ketogenic diet known to help individuals with Lafora disease? See answer

  • Can an adult get Lafora disease? See answer


  1. Lafora progressive myoclonus epilepsy. Genetics Home Reference. July 2009; http://ghr.nlm.nih.gov/condition/lafora-progressive-myoclonus-epilepsy.
  2. Anna C Jansen, MD, PhD and Eva Andermann, MD, PhD, FCCMG. Progressive Myoclonus Epilepsy, Lafora Type. GeneReviews. January 2015; http://www.ncbi.nlm.nih.gov/books/NBK1389/#lafora.Clinical_Description.
  3. Monaghan TS, Delanty N. Lafora disease: epidemiology, pathophysiology and management. CNS Drugs. July 2010; 24(7):549-561.