Lafora Disease: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Lafora Disease?
A neurologist, a doctor who treats brain and nerve conditions, usually leads care for Lafora disease. A geneticist, a doctor who treats inherited conditions, may also be part of the care team. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is Lafora disease?
Lafora disease is a rare condition of the brain and nerves. It is also called Lafora body disease. It causes repeated seizures and a decline in thinking skills. The signs usually show up in late childhood or the teen years and get worse with time.
It is a type of progressive myoclonic epilepsy. Myoclonus is a rapid twitch or jerk of a muscle or group of muscles.
In Lafora disease, the body does not process glycogen, a source of stored energy, in the right way. It builds up and forms clumps called Lafora bodies.
Symptoms
Symptoms usually start between ages 8 and 19, most often at ages 14 to 16. Early signs can include headaches, trouble learning in school, and seizures. Other symptoms include:
- Myoclonic seizures, which look like jerking or brief shaking movements.
- Tonic-clonic seizures, in which muscles stiffen and then jerk or shake.
- Seizures that cause temporary blindness or visual hallucinations.
- Trouble with balance, walking, and coordination, and stiff muscles.
- Behavior changes, depression, confusion, and trouble speaking.
- Loss of memory, judgment, and thought, called dementia.
Over time, seizures get worse and are harder to treat. Myoclonus is worse with motion, excitement, or flashing light. Later, it can happen all the time and affect the whole body.
Causes and who gets it
Lafora disease is caused by changes in the EPM2A or EPM2B (also called NHLRC1) genes. These changes cause Lafora bodies, clumps of abnormal glycogen that damage cells. Nerve cells are especially vulnerable. Changes in these two genes account for 80 to 90 percent of cases.
It is inherited in an autosomal recessive pattern. This means a person has a changed copy of the gene from each parent. The parents usually have no symptoms.
It affects teens of both sexes equally. It has been reported more often in people from the Mediterranean, Northern Africa, India, and Pakistan.
How doctors diagnose it
The first symptoms that bring someone to a doctor are usually seizures. A skin biopsy can show Lafora bodies in the sweat ducts. Genetic testing for changes in the EPM2A or EPM2B genes confirms the diagnosis.
Doctors may suggest an EEG or an MRI of the brain. These tests check for other disorders and look for seizures. An EEG is a test of the brain's electrical activity.
Many conditions look like Lafora disease. One example is juvenile myoclonic epilepsy, which does not get worse over time.
Treatment
There is no cure yet, so treatment focuses on managing symptoms. Care may involve a team, including a neurologist and a geneticist.
Symptoms are usually managed with a combination of medicines. Many anti-seizure medicines are used for the seizures and myoclonus.
Physical or occupational therapy may help keep muscles in good shape and keep you walking as long as possible. Genetic counseling is recommended for people with Lafora disease and their families. Support for the patient and family may also help.
Metformin, a diabetes medicine, has been called an orphan drug for Lafora disease by the FDA. It is not yet approved to treat Lafora disease.
When to see a doctor
See a doctor if a teen has seizures, headaches, or new trouble learning in school.
Call 911 or go to the emergency room if a seizure lasts longer than several minutes. Do the same if seizures come back to back. Status epilepticus is life threatening.
If you are thinking about harming yourself, call or text 988 (the Suicide and Crisis Lifeline) right away.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. A direct primary care doctor can look into early signs, order first tests, and help coordinate visits with a neurologist and a geneticist. They can also help with long-term follow-up.
Common questions
Is Lafora disease inherited?
Yes, it is inherited in an autosomal recessive pattern. With two carrier parents, the chance of an affected child is 25 percent in each pregnancy.
Can Lafora disease be cured?
No, there is no cure yet. Treatment focuses on managing symptoms.
When does Lafora disease start?
It usually starts in the teen years. Most affected people do not have symptoms until adolescence.
What is a Lafora body?
A Lafora body is a clump of abnormal glycogen inside cells. Glycogen is a complex sugar that stores energy in the body.
Is juvenile myoclonic epilepsy the same as Lafora disease?
No, but the two look alike at first. Juvenile myoclonic epilepsy does not get worse over time, and it does not cause loss of thinking or movement skills.
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Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
