All you need to know about: Lafora disease Premium

Lafora disease is a rare, fatal genetic disorder affecting the brain, with limited treatment options and severe symptoms.

Lafora disease is a rare but serious disorder that significantly impacts the lives of those who have it. While there is currently no cure, research into potential treatments is ongoing. For now, managing the disease with medications, therapies, and supportive care is the best way to improve the quality of life for individuals with it, say studies. 

Given its rarity, it’s important for both doctors and families to be aware of the signs and symptoms of Lafora disease. Early diagnosis can help with planning care and offering the right support, even though treatment options are limited. Here is all you need to know about Lafora disease:

Lafora disease is a rare and serious genetic disorder that affects the brain and nervous system. It belongs to a group of conditions known as progressive myoclonic epilepsies (PMEs). These diseases cause seizures, loss of motor skills, and mental decline. Lafora disease usually begins in adolescence, typically between the ages of 10 and 18, and worsens quickly, leading to a severe decline in quality of life. The disease is caused by the buildup of abnormal structures called Lafora bodies in the brain and other tissues, which interfere with normal brain function.

It is said that the disease derives its name from Spanish neuropathologist Gonzalo Rodríguez Lafora, who first documented it in an adolescent patient who was experiencing progressive myoclonic epilepsy. 

Lafora disease is inherited in an autosomal recessive manner. This means that a person must inherit two faulty copies of a gene — one from each parent — to develop the disease. The main genes involved are EPM2A and NHLRC1 (ie EPM2B). These genes are responsible for making proteins that help manage glycogen, a type of sugar used by the body for energy. When either of these genes has a mutation, glycogen builds up in the form of Lafora bodies, which causes damage to cells in the brain.

The EPM2A gene makes a protein called laforin, and the NHLRC1 gene makes a protein called malin. Both proteins are involved in regulating how glycogen is processed. When these proteins don’t function properly, the glycogen that is meant to be used for energy accumulates in an abnormal form. This buildup harms neurons and causes the symptoms seen in Lafora disease.

The symptoms of Lafora disease usually start in adolescence and progress quickly. Seizures are often the first sign of the disease. These begin as myoclonic seizures, which cause sudden jerking movements of the muscles. Over time, the seizures become more severe, progressing into generalised tonic-clonic seizures, where the person loses consciousness and experiences violent muscle spasms. These seizures can significantly affect a person’s ability to perform daily tasks and can be dangerous if not controlled.