Lafora Disease

What is Lafora disease?

Lafora disease is a type of epilepsy that causes frequent seizures and loss of cognitive function. You might notice symptoms in your child like frequent jerking movements, difficulty in school, behavioral changes and/or speech challenges. These symptoms begin during late childhood or adolescence and get worse over time.

Even with treatment, Lafora disease has life-threatening complications that occur within 10 years of diagnosis. But with research and advances in treatment options, many people survive well past their predicted life expectancies.

You may hear your child’s healthcare provider refer to Lafora disease as Lafora progressive myoclonus epilepsy.

Is Lafora disease rare?

Yes, Lafora disease is rare. Around the world, studies estimate it affects 4 people per 1 million annually. This may be underestimated due to unreported or undiagnosed cases.

What are the symptoms of Lafora disease?

Symptoms of Lafora disease include:

• Seizures.
• Gradually increasing difficulty learning, thinking and processing information (cognitive decline).
• Difficulty speaking.
• Balance and coordination challenges.
• Stiff muscles (spasticity).
• Behavioral changes.
• Mood changes (depression, apathy).
• Memory loss and dementia.

Types of Lafora disease seizures

Your child might experience different types of seizures with Lafora disease, including:

• Myoclonic seizures: Quick, sudden and involuntary muscle jerks (twitches). This is the most common type of seizure with Lafora disease.
• Occipital seizures: Sudden vision loss and hallucinations.
• Tonic-clonic seizures: Stiff muscles and shaking or jerking movements.
• Absence seizures: Moments where you stare off into space.
• Complex partial seizures: Staring with jerking or repetitive movements.
• Atonic seizures: Sudden muscle weakness.

Seizures get worse and more frequent as the condition progresses. Healthcare providers may be able to treat them early on, but they become more difficult to manage over time.

Progressive Lafora disease symptoms

Symptoms of Lafora disease get worse. This can happen over several months to years. They may start out as a mild interruption before limiting your child’s ability to interact with the world around them.

In about six years, roughly half of all people diagnosed with Lafora disease will lose the ability to control their movement. Your child may not be able to walk, talk or sit up on their own. At some point, your child will need around-the-clock care to keep them comfortable.

When do Lafora disease symptoms start?

Symptoms of Lafora disease usually begin between ages 8 to 19 years. The average onset is between 14 and 16 years. It can affect children as young as 5 years old.

What causes Lafora disease?

A change (mutation) to the EPM2A or EPM2B (NHLRC1) genes causes Lafora disease. In Lafora disease, you inherit one copy of this genetic change from both biological parents at conception (autosomal recessive).

The EPM2A or EPM2B genes process glycogen (stored energy) in your body. A change in these genes affects the instructions your genes get to do their job and process glycogen. If not processed as expected, glycogen forms a clump (known as a Lafora body). Lafora bodies build up in the cells of your nervous system, muscles, organs and tissues. It interferes with how your nervous system and other affected body parts function, which leads to symptoms of Lafora disease.

What are the risk factors for Lafora disease?

Lafora disease can affect anyone. It’s more common among people of Mediterranean (Spain, France, Italy), Northern African, Indian and Pakistani descent.

What are the complications of Lafora disease?

Lafora disease can cause continuous, prolonged seizures known as status epilepticus. Seizures can happen back-to-back or last for over 15 minutes. This is a life-threatening medical emergency.

As Lafora disease progresses, Lafora bodies build up and prevent parts of your child’s body from working as expected or at all. This leads to early death.

How is Lafora disease diagnosed?

Seizures usually prompt parents or caregivers to see a healthcare provider about a diagnosis. A provider will learn more about your child’s symptoms and medical history during a physical exam and a neurological exam.

Tests help your provider determine the underlying cause. Tests could include:

• An electroencephalogram (EEG).
• A magnetic resonance imaging (MRI) test.
• A skin biopsy (to find Lafora bodies).
• A genetic test.

While you may need to schedule several visits to see your child’s care team to get an accurate diagnosis, know that each test rules out conditions with similar symptoms and helps your child’s provider offer treatment options specific to your child’s needs.

How is Lafora disease treated?

Treatment for Lafora disease focuses on managing symptoms and could include:

• Antiseizure medications for seizures.
• Valproic acid, perampanel or benzodiazepines for myoclonic seizures.
• Physical therapy or occupational therapy to retain muscle strength.

As symptoms progress, managing them becomes more difficult. Your child’s providers will do everything they can to keep your child comfortable.

Can Lafora disease be prevented?

There’s no known way to prevent Lafora disease. You can learn more about your risk of having a child with an inherited condition by talking to a healthcare provider about genetic testing if you plan to grow your family.

What’s the outlook for Lafora disease?

Lafora disease has a poor outlook and results in early death. There isn’t a cure available.

After your child receives a Lafora disease diagnosis, a genetic counselor can help you learn more about the condition and how it’ll affect your child. They’ll also give you advice on how to care for your child and offer resources to fit your family’s needs.

Many families find mental health counseling beneficial. Lafora disease can get worse quickly. It can be difficult to watch your child experience symptoms and lose previously mastered skills over the course of the disease. This can significantly impact your emotional well-being. It’s important to take care of yourself while you’re also taking care of your family during this difficult time.

What is the life expectancy of someone with Lafora disease?

Most children diagnosed with Lafora disease survive up to 10 years after symptoms begin. Many live into early adulthood.

When should my child see a healthcare provider?

Contact emergency services right away if your child has a seizure for the first time.

Let their healthcare provider know if your child:

• Experiences behavioral or mood changes.
• Has trouble with balance and coordination.
• Has difficulty talking.
• Is confused often or has trouble learning in school.

What questions should I ask my child’s healthcare provider?

• How can I help my child?
• What type of treatment do you recommend?
• What symptoms should I look out for?
• What is my child’s life expectancy?
• Are there clinical trials available?