Lafora'S Disease: Signs, Causes and How To Treat

Lafora's disease is a rare genetic disorder that affects the nervous system. It is caused by mutations in certain genes that play a role in how the body processes sugars. These mutations lead to the accumulation of abnormal substances called Lafora bodies in cells throughout the body, including the brain. Over time, the buildup of these Lafora bodies can cause neurological problems and seizures in affected individuals. The disease typically begins in adolescence or early adulthood and progresses slowly over time. While there is currently no cure for Lafora's disease, ongoing research is focused on understanding the underlying mechanisms and developing potential treatments to manage its symptoms.

What Are the Symptoms of Lafora'S Disease

Symptoms usually begin in adolescence and progress over time. Patients may experience seizures, muscle stiffness, cognitive decline, and vision problems. As the disease advances, individuals may develop difficulty with movement, coordination, and speech. Additionally, behavioral changes and personality alterations can occur. Early diagnosis and management are crucial in addressing symptoms and improving quality of life for individuals living with Lafora's disease.

Progressive myoclonic seizures characterized by sudden, brief muscle jerks
Cognitive decline leading to dementia and impaired intellectual function
Ataxia, affecting coordination and balance, often leading to unsteady gait
Visual disturbances such as vision loss or optic atrophy
Behavioral changes including irritability, aggression, and personality alterations

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Causes of Lafora'S Disease

The main cause of Lafora's disease is mutations in the EPM2A or NHLRC1 genes, which are involved in glycogen metabolism. These mutations disrupt the normal breakdown of glycogen, causing it to accumulate and form Lafora bodies. As a result, brain cells are damaged, leading to the progressive neurological deterioration seen in individuals with this condition.

Lafora's disease is leading to abnormal glycogen accumulation in cells.
Inheritance of Lafora's disease follows an autosomal recessive pattern, requiring both parents to pass on the mutated gene.
Rare genetic mutations can disrupt the normal process of glycogen metabolism, contributing to the development of Lafora's disease.
Environmental factors or triggers have not been definitively linked to Lafora's disease; however, genetic predisposition plays a significant role.
Lafora's disease primarily affects adolescents and young adults, with symptoms typically appearing in the second decade of life.

Types Of Lafora'S Disease

Lafora's disease is a rare, progressive form of epilepsy that is categorized into two main types: classic Lafora disease and late-onset Lafora disease. Classic Lafora disease typically manifests in adolescence with symptoms such as seizures, myoclonus, and cognitive decline. Late-onset Lafora disease, on the other hand, presents later in adulthood and progresses more slowly. Both types are caused by mutations in the genes responsible for glycogen metabolism, leading to the accumulation of abnormal glycogen-like structures in the brain, resulting in neurological deterioration.

It is characterized by the accumulation of abnormal substances called polyglucosans in cells.
There are two main types of Lafora's disease: classic and late-onset.
The classic type typically presents in adolescence and progresses rapidly.
Symptoms of classic Lafora's disease include seizures, cognitive decline, and movement abnormalities.
Late-onset Lafora's disease manifests later in life, usually in the third or fourth decade.
This type tends to progress more slowly than the classic form.
Symptoms of late-onset Lafora's disease may include myoclonus (sudden muscle jerks), seizures, and cognitive impairment.

Risk Factors

The disease primarily affects adolescents and young adults, with symptoms including seizures, cognitive decline, and movement difficulties. Risk factors for Lafora's disease include inheriting mutations in either the EPM2A or NHLRC1 genes, which play a role in glycogen metabolism. Individuals with a family history of the disease are at higher risk, as it follows an autosomal recessive pattern of inheritance. Early diagnosis and management are crucial in addressing the progressive neurological deterioration associated with Lafora's disease.

Genetic mutations in the EPM2A or NHLRC1 genes increase the risk of developing Lafora's disease.
Family history of Lafora's disease or a related neurodegenerative disorder can predispose individuals to the condition.
Consanguineous marriages or close blood relatives having children may elevate the likelihood of inheriting Lafora's disease.
Onset of symptoms typically occurs during adolescence, indicating age as a risk factor for Lafora's disease.
Poorly controlled epilepsy or seizures, especially in individuals with a family history of Lafora's disease, can be a risk factor.

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Diagnosis of Lafora'S Disease

Lafora's disease diagnosis typically involves a combination of clinical evaluation, genetic testing, and imaging studies. Patients presenting with symptoms like seizures, cognitive decline, and movement problems are evaluated by a neurologist. Genetic testing, usually through blood samples, can identify mutations in the EPM2A or NHLRC1 genes associated with Lafora's disease. Additionally, imaging studies such as MRI scans can reveal characteristic changes in the brain that are indicative of the disease. These diagnostic methods collectively help confirm the presence of Lafora's disease and guide appropriate treatment strategies for patients.

Electroencephalogram (EEG) to detect characteristic brain wave patterns indicative of Lafora's disease.
Muscle or skin biopsy to examine abnormal glycogen accumulation, a hallmark of Lafora's disease.
Neuroimaging such as MRI to assess brain structure and identify abnormalities associated with Lafora's disease.

Treatment for Lafora'S Disease

Treatment options for Lafora's disease focus on managing symptoms and improving quality of life for patients. While there is currently no cure for this rare genetic disorder, medications such as anti-seizure drugs can help control seizures. Physical and occupational therapy may be recommended to address movement difficulties and muscle weakness.

Dietary modifications, like a ketogenic diet, could also be beneficial in managing symptoms. Additionally, genetic counseling and support services play a crucial role in assisting patients and their families in coping with the challenges associated with Lafora's disease.

Medications such as anti-seizure drugs may be prescribed to help control seizures and improve quality of life. Physical therapy and occupational therapy can be beneficial in maintaining muscle function and mobility. Dietary modifications, such as a ketogenic diet, may also be recommended to help reduce seizure frequency.

Genetic counseling can provide valuable information about the inheritance pattern of the disease and help individuals understand their risk of passing it on to future generations. In some cases, clinical trials or experimental treatments may be considered as a way to explore new therapies for this rare genetic disorder. Regular monitoring by a multidisciplinary team of healthcare professionals is essential to address the complex needs of individuals living with Lafora

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