What is progressive myoclonic epilepsy?

What is progressive myoclonic epilepsy?

Progressive myoclonus epilepsy (PME) is a group of conditions involving the central nervous system and representing more than a dozen different diseases. These diseases share certain features, including a worsening of symptoms over time and the presence of both muscle contractions (myoclonus) and seizures (epilepsy).

What are the symptoms of progressive myoclonic epilepsy?

People with one of the PMEs have a mix of myoclonic (rapid muscle jerks of various body parts) and tonic-clonic seizures. Other symptoms that usually happen later on are unsteadiness, muscle rigidity (tightness of the muscles), balance problems, and mental decline.

Can you live a normal life with myoclonic seizures?

People with this condition can have a normal life expectancy. This condition, also known as Lafora disease , is a rare and inherited metabolic disorder. It is known by both its myoclonic and tonic-clonic seizures. People who have this type of epilepsy also tend to have seizures in response to flashing lights.

Can myoclonic epilepsy be cured?

Most of the time, however, the underlying cause can’t be cured or eliminated, so treatment is aimed at easing myoclonus symptoms, especially when they’re disabling. There are no drugs specifically designed to treat myoclonus, but doctors have borrowed from other disease treatment arsenals to relieve myoclonic symptoms.

How do you treat Lafora?

Currently, AEDs are the only available treatments that control the severity and frequency of seizures and myoclonus to some degree in patients with Lafora disease. Among these drugs, valproic acid is the mainstay.

Is Lafora genetic?

Lafora disease is a genetic disease, which means that it is caused by one or more genes not working correctly.

How many people are affected by Lafora disease?

The disease has been found in more than 250 families throughout the world, resulting from EPM2A (responsible for Laforin) and EPM2B (responsible for E3 ubiquitin-protein ligase NHLRC1) mutations, and the prevalence seems to be close to four cases per one million persons.

What is the most severe type of seizure?

Tonic-clonic seizures, previously known as grand mal seizures, are the most dramatic type of epileptic seizure and can cause an abrupt loss of consciousness, body stiffening and shaking, and sometimes loss of bladder control or biting your tongue.

Can myoclonic seizures cause brain damage?

It can be the most disabling form of myoclonus affecting the arms, legs, and face. One of the causes may be brain damage that results from a lack of oxygen and blood flow to the brain, or it can be secondary to other medical or neurological conditions.

What is progressive myoclonus epilepsy (Lafora disease)?

Progressive myoclonus epilepsy, Lafora type (also known as Lafora disease [LD]) is characterized by focal occipital seizures presenting as transient blindness or visual hallucinations and fragmentary, symmetric, or generalized myoclonus beginning in previously healthy individuals at age eight to 19 years (peak 14-16 years).

What is Lafora epilepsy?

This type of PME is also called Lafora epilepsy, progressive myoclonus 2, and EPM2A. Lafora disease is characterized by the buildup of Lafora bodies (carbohydrate/surger particles) in cells in the brain and spinal cord.

What is the prognosis of Lafora disease?

Lafora disease is an autosomal recessive form of progressive myoclonus epilepsy characterized by a severe course that leads to death in 5–10 years in most patients. Patients present myoclonic, absence and generalized tonic-clonic seizures at onset, tipically at around age 14–15 years.

What are progressive myoclonic epilepsies (PME)?

What are progressive myoclonic epilepsies, known as PME? Progressive myoclonic epilepsies (PME) are a group of more than 10 rare types of epilepsies that are “progressive.” People with PME have a decline in motor skills, balance and cognitive function over time.