Lafora Disease, All You Want to Know about this Disease

Lafora disease is a rare condition that affects the brain and nervous system. It usually begins during childhood or teenage years and causes seizures, memory problems and difficulty speaking and walking. Over time, it becomes worse. Although there’s no cure yet, treatment can help manage symptoms and improve comfort.

What is Lafore Disease?

Lafora Disease is a type of epilepsy that gets worse over time. It causes different types of seizures and makes it hard to think, move and talk. The disease often starts between the ages of 8 and 19.

Doctors may also call it ”Lafora progressive myoclonus epilepsy.”

Is it a Rare Disease?

Yes, Lafors Disease is very rare. It affects about 4 people in every 1 million each year around the world. Many cases may go unreported or undiagnosed.

Symptoms of Lafora Disease

The symptoms usually begin during adolescence and slowly get worse. These may include:

• Jerking or twitching movements (myoclonic seizures)
• Trouble thinking and learning
• Difficult speaking
• Loss of balance and coordination
• Muscle stiffness
• Changes in behavior and mood
• Memory loss or dementia

Types of Seizures in Lafora Disease

People with Lafora disease may have several types of seizures, such as:

• Myoclonic seizures: Sudden jerks in muscles
• Tonic-clonic seizures: Stiffening and shaking
• Absence seizures: Staring into space
• Occipital seizures: Vision changes or hallucinations
• Atonic seizures: Sudden loss of muscle control
• Complex partial seizures: Staring with repetitive movement

How does it Progress?

Over time, symptoms get worse. Within 6 years, many people lose the ability to walk, talk or sit without help. In the final stages, complete care is needed around the clock.

What causes Lafora Disease?

Lafora disease is caused by a change (mutation) in the EPM2A or EPM28 gene. These genes help manage stored energy (glycogen) in the body. When they don’t work currently, clumps of glycogen (called Lafora bodies) build up in the brain and other body parts. This causes the symptoms of the disease.

Complications

Lafora disease can lead to:

• Long, life-threatening seizures (called status epilepticus)
• Complete loss of movement and independence
• Early death

How is Lafora Disease Diagnosed?

Doctors may use several tests to find Lafora disease:

• EEG (electroencephalogram): To check brain activity
• MRI: To look at the brain
• Skin biopsy: To find Lafora disease
• Genetic testing: To confirm the gene mutation

How is it Treated?

There is no cure, but treatment helps manage symptoms:

• Medicines: To control seizures
• Therapies: Like physical and occupational therapy to keep muscles strong
• Supportive care: To keep the child comfortable as the disease progresses.

Life Expectancy

Most people with Lafora disease live about 10 years after the first symptoms appear. Some may live into early adulthood. The disease does lead to early death.

Can It Be Prevented?

There is no way to prevent Lafora disease. However, genetic-testing before having children can help parents know their risk of passing on the condition.