What is Lafora progressive myoclonus epilepsy?

Lafora progressive myoclonus epilepsy (Lafora disease) is a type of epilepsy or seizure disorder that is first seen in late childhood or adolescence. People with Lafora disease have recurrent seizures and changes in brain function that can lead to other neurological and physical problems.

  • Genetic mutations and changes in the way the body stores glucose are linked to this disorder.
  • Glycogen is the main way the body stores glucose or sugar in the body. In people with Lafora disease, too much glycogen can be found in their cells. These abnormal clusters of glycogen are called Lafora bodies.
  • Neurons in the brain are very sensitive to the buildup of glycogen. This leads to the problems that people with Lafora disease experience.
  • The inherited pattern for Lafora progressive myoclonic epilepsy is an autosomal recessive pattern (the parents of a person affected by the condition each carry one copy of the abnormal gene).

What types of seizures do people with Lafora disease have?

People with Lafora disease have a progressive form of myoclonic epilepsy. The most typical seizures are myoclonic seizures, but they can also have generalized tonic-clonic seizures (convulsions). Focal (or partial) seizures involving the occipital lobe of the brain can also occur and cause visual hallucinations and temporary loss of vision. Status epilepticus, a seizure emergency, can occur in people with Lafora disease.

What are myoclonic seizures?

Myoclonic seizures are a type of seizure with sudden brief twitching or muscle jerking. Myoclonic epilepsy can affect a specific body part or the whole body.

What other symptoms of Lafora disease may be seen?

People with Lafora disease can also have behavioral changes such as confusion, speech difficulties, and depression. Over time, changes in intellectual function, judgement, and memory are seen. The cerebellum can also be affected causing slurred speech, coordination, and balance problems. Children with these problems should get comprehensive care and services early in life.

How is Lafora disease diagnosed?

Persons suspected of having this disorder will undergo evaluation by a neurologist or epileptologist (neurologist specializing in epilepsy), and often a geneticist as well. Tests including EEG, MRI, and genetic testing are completed to help confirm the diagnosis. A skin biopsy may also be done to look for Lafora bodies, a hallmark of the disease.

What is the cause of Lafora disease?

Researchers have discovered that mutations in genes EMP2A and NHLRC1 are involved in this type of epilepsy. Researchers estimate that these two genes are involved in approximately 80% of all cases. Researches continue to look for other causes of the disorder.

How is Lafora progressive myoclonus treated?

Treatment is based on a person's symptoms. Anticonvulsant or seizure medications are used to try and control seizures. Examples of seizure medications that may be used include valproate, levetiracetam, topiramate, benzodiazepines, or perampanel. As the disease progresses, some people may require a feeding tube so that nutrition and medicines can be given.

What is the prognosis for patients with Lafora disease?

At this time, the prognosis for persons affected by Lafora disease is, unfortunately, poor. Symptoms are progressive and in general people usually lose their ability to perform daily living activities in their twenties. Persons affected by Lafora disease survive approximately 10 years after the symptoms begin. Clinical trials and laboratory research examining causes and potential treatments for persons affected by Lafora disease are ongoing.

Authored by: Elaine Kiriakopoulos MD, MSc | Drug Resistant and Rare Epilepsies Editor on 3/2016
Reviewed by: Patricia O. Shafer RN MN | Associate Editor / Community Manager