Maybe it started with a teacher’s phone call. Your bright, engaged teenager is suddenly struggling in class. Or perhaps you noticed it at the dinner table—a sudden, quick jerk of their arm that sent a fork clattering to the floor. You might have brushed it off at first. But then it happened again. These small, puzzling changes are often the first whispers of a condition that no parent is ever prepared for.
If you’re reading this, chances are you’ve heard the term Lafora disease. It’s a diagnosis that can feel incredibly isolating. I want to walk you through what it is, what to expect, and how we can face it together. It’s a rare, inherited form of epilepsy that typically begins in the late childhood or teen years, and it’s known for being progressive, meaning the symptoms change and worsen over time.
What Is Lafora Disease, and Why Is This Happening?
At its heart, Lafora disease is a genetic condition. It’s caused by a mutation, or a change, in one of two specific genes, either EPM2A or NHLRC1. Think of genes as tiny instruction manuals inside our cells. In this case, these genes are responsible for correctly processing glycogen, which is a form of stored sugar our body uses for energy.
When these genes have a fault, the glycogen doesn’t get processed properly. Instead, it clumps together into what we call Lafora bodies. These sticky clumps build up inside the cells of the nervous system, muscles, and organs, disrupting how they work. This disruption is what causes the symptoms we see.
It’s an autosomal recessive condition, which simply means a child has to inherit one copy of the faulty gene from both biological parents to develop the disease. It’s nobody’s fault; it’s just a matter of genetic chance. While it can happen to anyone, it is seen more often in families with Mediterranean, Northern African, or South Asian heritage.
Recognizing the Signs and Symptoms
The symptoms of Lafora disease usually start between the ages of 8 and 19. They can be subtle at first but become more pronounced over a period of months to years.
You might notice a combination of things:
- Seizures: This is the most defining feature. There are several different types your child might experience.
- Cognitive Decline: This can look like trouble with schoolwork, difficulty concentrating, or challenges with thinking and reasoning.
- Behavioral and Mood Changes: You might see confusion, apathy, or even signs of depression.
- Physical Difficulties: This includes problems with balance, muscle stiffness (spasticity), and trouble with speech.
- Memory Loss: As the condition progresses, it can lead to a form of dementia.
The seizures are often the most alarming symptom for parents. Here’s a breakdown of what those might look like.
| Seizure Type | What It Looks Like for Your Child |
|---|---|
| Myoclonic Seizures | These are very common. They look like quick, sudden, involuntary muscle jerks or twitches. It might be a single limb or their whole body. |
| Occipital Seizures | Your child might complain of temporary vision loss, or seeing flashing lights or strange patterns (hallucinations). |
| Tonic-Clonic Seizures | This is what many people think of as a classic seizure, with muscle stiffening followed by shaking or jerking movements. |
| Other Types | Less common types include staring spells (absence seizures), sudden muscle weakness causing a fall (atonic seizures), or staring with repetitive movements (complex partial seizures). |
A major concern is a condition called status epilepticus, where seizures are continuous or happen back-to-back. This is a medical emergency and requires immediate help.
How We Diagnose Lafora Disease
Getting to a diagnosis can feel like a long road, and I know how stressful that uncertainty is. When you bring your child in, the first thing we’ll do is listen. We’ll conduct a thorough physical and neurological exam.
To get a clearer picture and confirm the diagnosis, we’ll likely recommend a few tests:
- Electroencephalogram (EEG): This test records the electrical activity in the brain. It helps us see the patterns that are characteristic of seizures.
- Magnetic Resonance Imaging (MRI): A brain scan that lets us look for any structural changes, though in early Lafora disease, the MRI can often look normal.
- Genetic Test: This is the definitive test. A simple blood sample can be analyzed to look for the specific gene mutations that cause Lafora disease.
- Skin Biopsy: In some cases, a tiny sample of skin (often from the armpit) can be examined under a microscope to look for those tell-tale Lafora bodies.
Each test helps us rule out other possibilities and be absolutely sure, so we can build the right support plan for your child.
Navigating Treatment and Prognosis
This is the part of the conversation that is the most difficult. There is currently no cure for Lafora disease. Our focus, then, shifts entirely to managing symptoms, maximizing quality of life, and providing comfort.
Treatment often includes:
- Antiseizure Medications: We use drugs like valproic acid, perampanel, or benzodiazepines to try to control the myoclonic and other seizures. Unfortunately, as the disease progresses, seizures often become resistant to medication.
- Therapy: Physical and occupational therapy can help maintain muscle function and mobility for as long as possible.
- Supportive Care: As your child’s needs increase, care will focus on comfort, preventing complications, and supporting their daily needs. Eventually, this will likely mean around-the-clock care.
The prognosis for Lafora disease is, frankly, heartbreaking. The condition is terminal, typically within about 10 years of the first symptoms. This is an impossibly difficult reality to face. Please know that a whole team is here to support not just your child, but you and your entire family. Genetic counselors, therapists, and palliative care specialists can provide resources and guidance. Taking care of your own mental and emotional health is not selfish—it’s essential.
Take-Home Message
- What It Is: Lafora disease is a rare, severe, and progressive genetic epilepsy that affects children and teenagers.
- The Cause: It’s caused by faulty genes that lead to the buildup of “Lafora bodies” in cells, disrupting the nervous system.
- Key Symptoms: Look for a combination of seizures (especially quick muscle jerks), learning difficulties, and changes in balance or behavior.
- Diagnosis: A definitive diagnosis is usually made with a genetic test, supported by an EEG and sometimes a skin biopsy.
- The Focus of Care: Since there is no cure, treatment is about managing symptoms with medication and therapy, and providing comfort and support for your child and family.
- You Are Not Alone: Lean on your medical team, counselors, and support networks. It’s vital to care for yourself during this journey.
There is ongoing research, and we always hold out hope for breakthroughs. For now, our commitment is to walk this path with you, providing the best care, comfort, and compassion we can offer.
You are not alone in this.