Let's learn about Lafora Disease. Does your child have these symptoms?

Does your child seem to be fidgeting all the time? Or is he having trouble concentrating on schoolwork? Maybe he's noticed a change in his speech or behavior? These are things we sometimes don't pay much attention to, but they could be signs of a rare condition called Lafora Disease. So let's talk about this a little bit today, shall we?

What is Lafora Disease?

Simply put, Lafora disease is a type of epilepsy. It is characterized by frequent fits (seizures) and a gradual decline in the child's ability to think, remember, and understand things (cognitive function). You may also hear a doctor call it 'Lafora progressive myoclonus epilepsy'. That is the full medical name for it.

These symptoms usually begin in late childhood, around the age of eight, or in early adulthood. The sad thing is, these symptoms tend to get worse over time. Even with treatment, Lafora disease can cause life-threatening complications within 10 years. However, with new research and improved treatments, some children are living longer than expected. So don't give up hope.

Does this Lafora Disease affect many people?

Yes, this is a very rare disease . Studies conducted around the world suggest that about four per million people develop this disease annually. However, this number may be higher. This is because some people are not diagnosed properly or the disease is not reported, so these numbers may seem low.

What are the symptoms of Lafora Disease?

A child with Lafora disease may experience one or more of the following symptoms:

• Seizures: This is the main symptom.
• Cognitive decline: The child may not be able to understand lessons and may find it difficult to learn new things.
• Difficulty speaking: Slurring of words and slowing down of speech may occur.
• Loss of balance, such as wobbling while walking (balance and coordination challenges): Specifically, it can be difficult to walk in a straight line, such as making mistakes when holding things.
• Muscle stiffness (spasticity): It becomes difficult to bend or straighten the limbs, and the body feels stiff.
• Behavioral changes: You may become more stubborn than before, or you may just get angry.
• Mood swings: Sometimes, depression- like conditions can occur, meaning you feel sad all the time, without any interest in anything. Or you can develop apathy.
• Memory loss and conditions like dementia: You forget even the smallest things, and over time, you may not even remember who you are or where you are.

Types of seizures seen in Lafora disease

Your child may have different types of fits with Lafora syndrome. Let's take a look at what they are:

• Myoclonic seizures: These are very rapid, sudden, involuntary muscle twitches. They can be brief, like a jolt of electricity. This type of seizure is most often seen in Lafora disease.
• Occipital seizures: This can cause sudden loss of vision, or hallucinations.
• Tonic-clonic seizures: This is what many people call a "seizure." The muscles in the body become stiff and jerky.
• Absence seizures: In this, the child suddenly stops doing something and just stares into space. They regain consciousness within a few seconds.
• Complex partial seizures: This may also involve a blank stare, aimless shaking of the limbs, or doing the same thing over and over again.
• Atonic seizures: This is when the muscles in the body suddenly lose strength, causing the child to fall to the ground.

These fits become more severe as the disease progresses and become more frequent. Although doctors can control them in the early stages, it becomes more difficult over time.

How Lafora symptoms gradually increase

The symptoms of Lafora disease get worse over time. This can last from a few months to a few years. Initially, these symptoms start as minor annoyances, but gradually limit the child's ability to perform daily tasks and interact with others.

Imagine, about six years after being diagnosed with Lafora disease, about half of patients lose control of their movements . Your child may not be able to walk, talk, or sit up on their own. At some point, they may need 24-hour care to keep them comfortable. This is sad to hear, but it is important to know these things.

When do Lafora symptoms start?

Symptoms of Lafora usually begin between the ages of 8 and 19. It is most common between the ages of 14 and 16. However, sometimes this disease can affect children as young as 5 years old.

What is the cause of this Lafora disease?

The main cause of Lafora disease is a genetic mutation.. To be precise, the disease is caused by a mutation in the genes `EPM2A` or `EPM2B (NHLRC1)`. This happens like this: When a child is conceived, the child must receive one copy of this mutated gene from both the mother and the father. In medical terms, this is called `autosomal recessive` inheritance .

These genes, called `EPM2A` or `EPM2B`, are responsible for properly processing a substance called glycogen that stores energy in our body. Now, when these genes change, the instructions for properly processing glycogen become confused. What happens then is that this glycogen is not used properly, and small lumps (called Lafora bodies) form. These Lafora bodies are deposited in the cells of our nervous system, muscles, internal organs, and tissues. Then our nervous system and other organs where these Lafora bodies are deposited cannot function properly. That is the reason for the symptoms of Lafora disease. Do you understand?

Who is at higher risk of developing Lafora disease?

Anyone can get Lafora disease, but it is more common in people living in countries around the Mediterranean region (such as Spain, France, and Italy), North African countries, India, and Pakistan .

What are the possible complications of Lafora disease?

Lafora disease can cause a condition called 'status epilepticus', which is a condition in which seizures continue for more than 15 minutes at a time, or when a seizure ends and is followed by another seizure before consciousness is regained. This is a life-threatening medical emergency.

When Lafora disease becomes severe, the Lafora bodies I mentioned earlier accumulate in the body, causing the child's body parts to malfunction, sometimes stopping them altogether. This is the reason for the rapid death from this disease.

How is Lafora disease diagnosed?

Usually, when a child starts having a seizure, parents or guardians will see a doctor. The doctor will perform a physical exam, a neurological exam, and ask about your child's symptoms and medical history.

Then, they will order several tests to find out the real cause of these symptoms. These tests may include:

• EEG (Electroencephalogram - EEG): This measures the electrical activity of the brain.
• MRI (Magnetic Resonance Imaging - MRI): This takes a detailed picture of the brain.
• Skin biopsy: Sometimes a small piece of skin is taken and checked for Lafora bodies.
• Genetic test:This will confirm whether there are any changes in the genes I mentioned earlier.

This way, you may have to see several doctors and run several tests to accurately diagnose your child's condition. But remember, all tests are designed to rule out other conditions with similar symptoms and help you find the right treatment for your child.

How is Lafora disease treated?

In fact, there is no cure for Lafora disease yet . Current treatments are mainly aimed at controlling symptoms. These may include:

• Antiseizure medications to control the onset of the fit.
• Especially for myoclonic seizures, medications such as valproic acid, perampanel, or benzodiazepines can be given.
• Physical therapy or occupational therapy can help maintain muscle strength for as long as possible.

As symptoms worsen, they become more difficult to control. But the medical team treating your child will do everything they can to make your child as comfortable as possible.

What is the outlook for Lafora disease?

To be honest, the outlook for Lafora disease is not very good. That is, the child can die quickly from this disease. As mentioned earlier, there is no cure for this yet.

Once your child is diagnosed with Lafora syndrome, it's a good idea to see a genetic counselor . He or she can tell you more about the condition, how it affects your child, and give you advice on how to care for your child and where to find support that's right for your family.

Many families also find mental health counseling a great help. Because Lafora disease can quickly become severe. Seeing your child suffer from symptoms, and seeing things that used to work well gradually disappear, is very difficult for parents to bear. This can have a big impact on your mental health. Therefore, it is very important to take care of yourself as well as your family during this difficult time.

What is the life expectancy of someone with Lafora disease?

The average life expectancy for a child with Lafora disease is about 10 years after symptoms begin. Many children survive into young adulthood.

Can Lafora disease be prevented?

There is no known way to prevent Lafora disease. However, if you are planning to start a family, you can talk to your doctor about genetic testing to find out your risk of having a child with the inherited disease.

When should I take my child to a doctor?

For your childIf you have a seizure for the first time in your life, call emergency services right away. It's very important.

Also, tell the doctor if your child has any of these things:

• If there are any changes in behavior or mood .
• If you have problems with balance or coordination while walking .
• If it seems difficult to talk .
• If you feel anxious all the time and have difficulty understanding schoolwork .

What questions should I ask my child's doctor?

You can ask questions like these:

• 'Doctor, how can I help my child?'
• 'What kind of treatment do you recommend?'
• 'What other symptoms should I look out for?'
• 'What will my child's lifespan be like?'
• 'Are there any new clinical trials for this disease?'

Seeing your child have their first seizure, and then every time after that, can be a scary experience. You may feel helpless, or like you're just waiting for the clock to tick until the symptoms of Lafora take hold of your child. Lafora is a very sad condition. But you don't have to go through this journey alone. The medical team treating your child is there to help you. They will try to give your child everything they need and keep them comfortable.

Also, your child's medical team can help you and the rest of your family during this difficult time. You may find it helpful to talk to a mental health counselor or join a support group with others who have gone through similar experiences. Remember, new and improved treatments often mean that some children live longer than they would have hoped. So, never give up hope.

Final Take-Home Message

Lafora Disease is a very challenging and rare condition. It is normal to feel overwhelmed and sad when you hear something like this. However, the most important thing is to know that you are not alone. There are people who can provide the best medical care for your child and help you and your family get through this difficult time. Always stay informed about new research and new treatments. Always have hope. Also, don't forget to take care of your mental health during this journey. The stronger you are, the better off your child will be.

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