There is a very rare condition that causes seizures and cognitive decline, and it is called Lafora disease. Most of the time, people with Lafora disease begin to experience symptoms during teen years. Examples include loss of balance, jerking seizures, and speaking problems. The symptoms may worsen when the clumps of stored energy build up in the nervous system, muscles, and other tissues.
Furthermore, Lafora disease is a type of epilepsy that often causes frequent seizures and a loss of cognitive function. The symptoms of this disorder often worsen over time, especially if the condition is not managed. In any case, even with early detection and proper treatment, people with this disease can experience life-threatening complications. While most children live within 10 years after diagnosis, some new treatments help people survive past their predicted life expectancy. In some cases, this condition is called Lafora progressive myoclonus epilepsy.
Generally, this is a very rare disorder that affects about 4 out of 1 million people each year, but it is difficult to estimate exactly how many people have Lafora disease because there are multiple undiagnosed or unreported cases.
Types of Lafora Disease Seizures
Children who develop this condition can experience different types of seizures. These include:
- Myoclonic seizure – This type of seizure occurs suddenly and causes involuntary muscle jerks. Moreover, it is one of the most common types of seizures in people with this disorder.
- Occipital seizure – It often causes hallucinations and sudden loss of vision.
- Tonic-clonic seizure – Usually, children who experience this type of seizure also experience jerking movements and muscle stiffness.
- Absence seizure – In such cases, people often stare off into space.
- Complex partial seizure – It usually causes repetitive and jerking movements.
- Atonic seizure – Children who experience this type of seizure often experience sudden muscle weakness.
Symptoms
Those who develop Lafora disease often have the following symptoms. For example:
- Speaking problems
- Mood changes (including depression and apathy)
- Memory loss
- Dementia
- Spasticity (muscle stiffness)
- Problems with coordination and balance
- Cognitive decline
- Seizures
Usually, the symptoms start between the ages of 8 and 19. While the average onset is between 14 and 16 years, sometimes, the symptoms may appear in 5-year-old children. Immediately contact your healthcare professional if your child has any of the previous symptoms.
Furthermore, the symptoms of Lafora disease usually worsen over time. While it may occur within a few months, it may take years. Almost all people lose the ability to control their muscles after 6 years of diagnosis.
Causes and Risk Factors
Some experts have found that a mutation (change) in the following genes causes Lafora disease. These include EMP2A or EMP2B (NHLRC1) genes. Usually, those who develop this disease inherit one copy of the abnormal gene from both biological parents during pregnancy (autosomal recessive). Normally, these genes help process glycogen (stored energy) in the body. When there is a change in one or both genes, the body cannot properly process glycogen. As a result, it leads to a clump, also known as a Lafora body. Hence, they accumulate in the cells of the nervous system, muscles, organs, and other tissues, causing symptoms.
While anyone can develop this genetic disorder, physicians have found some factors that may elevate your risk of developing it even more. Check some of them below:
- Family history – If you have a parent or sibling with Lafora disease, your risk of developing it significantly increases.
- Ethnicity – Generally, Lafora disease can affect anyone, but it occurs more commonly in Mediterranean (including Italy, Spain, and France), North African, Indian, and Pakistani populations.
- Consanguinity – Lafora disease is also more common among marriages between close relatives.
- Autosomal recessive inheritance – This condition often happens when both biological parents carry the abnormal gene.
What Happens if Lafora Disease is Left Untreated?
Those who develop this condition and leave it unmanaged may also experience some complications. Check some examples below:
- Status epilepticus
- Dementia – People with Lafora disease often experience intense cognitive decline (including memory loss, psychosis, and apathy).
- Physical decline – For example, severe ataxia (loss of coordination), spastic quadriparesis (including muscle weakness or stiffness), loss of speech, and others.
- Dysphagia – This complication may also lead to severe nutritional deficiency, poor oral care, and an increased risk of choking.
- Aspiration pneumonia – This is a more severe form of pneumonia that may lead to death without immediate treatment.
- Respiratory failure – This is also a serious complication that requires intensive care.
- Pressure ulcers – This complication often occurs due to prolonged immobility.
- Secondary infections (including sepsis)
This document does not contain a full list of Lafora disease complications, but you can talk with your healthcare professional about ways to reduce the risk of developing them. Unfortunately, there is no way to prevent this disorder because it occurs during pregnancy when abnormal genes are passed from the biological parents to their biological children.
Diagnosis
Healthcare providers commonly begin the diagnosis of Lafora disease with a physical and neurological examination. During these procedures, they will check for irregularities linked to the disease. In any case, to confirm or exclude this genetic disorder, physicians will perform the following tests. These include:
- Skin biopsy
- Electroencephalogram (EEG)
- MRI (magnetic resonance imaging) scans
- Genetic tests
Your doctor may also perform other tests and procedures to rule out other diseases that cause similar symptoms.
Treatment
The treatment goal is to ease the symptoms, prevent life-threatening complications, and improve your quality of life. Check some common options often prescribed by doctors below:
- Anti-seizure medicines
- Benzodiazepines, Perampanel, or Valproic acid to manage myoclonic seizures
- Occupational therapy and physical therapy
Frequently Asked Questions
What is the life expectancy of someone with Lafora disease?
While most children survive about 10 years after diagnosis, some people may live into early adulthood.
What causes Lafora disease?
This health condition happens due to mutations in certain genes known as EMP2A or EMP2B genes. These genetic changes negatively affect the body’s ability to process glycogen.
Is Lafora disease curable?
Unfortunately, there is no way to cure or reverse this condition. That’s why the treatment goal is to improve your quality of life.
Can Lafora disease be detected before symptoms appear?
Yes, Lafora disease can be identified before symptoms develop through genetic testing, especially in families with a known history of the condition. Carrier screening for parents and prenatal testing during pregnancy may help determine whether a child is at risk. However, routine screening is not commonly performed unless there is a strong family history or increased genetic risk.
How is Lafora disease different from other types of epilepsy?
Unlike many other forms of epilepsy, Lafora disease is progressive and caused by a genetic metabolic defect. This means that, in addition to seizures, individuals experience worsening neurological decline, including dementia, loss of coordination, and severe physical impairment. Most other epilepsy types do not involve this level of continuous neurodegeneration.
Are there any new or experimental treatments for Lafora disease?
Yes, researchers are actively studying potential therapies, including gene therapy, enzyme-targeting treatments, and drugs that reduce abnormal glycogen buildup. While these treatments are not yet widely available, early studies and clinical trials show promise in slowing disease progression. Patients and families may consider discussing clinical trial opportunities with their healthcare provider.
