Lafora disease

What causes Lafora disease?

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.

Last updated on 05-01-20

How is Lafora disease diagnosed?

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.

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 on 05-01-20

Is Lafora disease inherited?

Lafora disease is inherited in an autosomal recessive manner. 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 on 05-01-20

Have there been any advances that suggest anything can slow the progression of Lafora disease?

There are currently no treatments available to slow the progression of Lafora disease. However, there is ongoing research regarding potential future treatments. For example, there has been research on mice with Lafora disease that were bred with mice that have a knockout of the PTG gene (an inactivated copy of the gene). The PTG gene provides instructions for one of the enzymes that modify glycogen synthase activity. If it is not functional, or “knocked out,” no Lafora disease develops. This research may show that the disease could be prevented by indirectly altering glycogen synthase function. An article with more information about this research can be viewed by clicking here.

Last updated on 05-01-20

Why is there little information about Lafora disease available?

Lafora disease affects a small number of people compared to the general population and is considered rare in many parts of the world. Unfortunately, the field of rare diseases as a whole suffers from a shortage of medical and scientific knowledge, largely due to lack of awareness and funding sources. Until recently there was no real research or public health policy concerning issues related to the field. Those affected by these diseases face similar difficulties in their quest for relevant information and proper direction towards qualified professionals. On a positive note, there are now several organizations aiming to raise awareness of rare diseases as well as funding programs to support rare disease research and potential therapies.

Last updated on 05-01-20

Can an adult get Lafora disease?

Lafora disease typically begins between ages 12 and 17 years, after a period of apparently normal development. However, there are reports of later onset forms of the condition. In these cases,the affected person often begins showing signs and symptoms of Lafora disease between ages 21 and 28. Some studies suggest that later onset cases of Lafora disease may be associated with a slower disease progression.

Last updated on 05-01-20

What is 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. 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.

Last updated on 05-01-20

Where can I find up-to-date information about Lafora disease?

You can find relevant articles on Lafora disease through PubMed, a searchable database of biomedical journal articles. Although not all of the articles are available for free online, most articles listed in PubMed have a summary available. To obtain the full article, contact a medical/university library or your local library for interlibrary loan. You can also order articles online through the publisher’s Web site. Using "Lafora disease" as your search term should help you locate articles. Click here to view a search.

The National Library of Medicine (NLM) Web site has a page for locating libraries in your area that can provide direct access to these journals (print or online). The Web page also describes how you can get these articles through interlibrary loan and Loansome Doc (an NLM document-ordering service). You can access this page at the following link You can also contact the NLM toll-free at 888-346-3656 to locate libraries in your area.

Last updated on 05-01-20

Is a ketogenic diet known to help people with Lafora disease (LD)?

The impact of a long-term ketogenic diet was studied in five people with Lafora disease. Although the diet was well-tolerated by patients, it did not stop disease progression or improve symptoms. However, given the small study population, the researchers could not exclude the possibility that a ketogenic diet has the potential to slow down the disease progression. Larger studies are needed to evaluate the impact of a ketogenic diet in treating patients with Lafora disease.

Last updated on 05-01-20

What is the long-term outlook for people with Lafora disease?

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.

Last updated on 05-01-20

How might Lafora disease be treated?

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.

Last updated on 05-01-20

Name: Epilepsy Foundation 8301 Professional Place East Suite 230
Landover, MD, 20785, United States
Phone: +1-301-459-3700 Toll Free: 800-332-1000 (24/7 Helpline) Fax : +1-301-577-2684 Email: Url: en Español 1-866-748-8008
Name: Chelsea's Hope: Lafora Children Research Fund PO Box 1984
Danville, CA, 94526, United States
Phone: 925-963-7122 Email: Url:

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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