Causes
In Lafora Disease, abnormal deposits of starch-like material accumulate throughout the body in various tissues, called Lafora bodies. This accumulation is primarily affecting the brain and other organs. It has been identified that Lafora Disease is caused by mutations in genes EPM2A and EPM2B. These genes regulate glycogen metabolism, which is disrupted by mutations, resulting in the formation of Lafora bodies.
Symptoms
Often manifesting in adolescence or early adulthood, Lafora Disease is characterized by progressive neurological deterioration. Common symptoms include:
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The most common types of seizures are myoclonic seizures, tonic-clonic seizures, and generalized seizures.
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Gradual decline in cognitive function, including memory loss, concentration problems, and intellectual decline.
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Individuals may experience visual hallucinations or other perceptual disturbances.
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Unsteady gait and difficulty with fine motor skills are symptoms of ataxia.
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There may be mood swings, irritability, and aggression.
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Sleep disturbances include excessive daytime sleepiness and insomnia.
Diagnosis
Clinical evaluation, genetic testing, and imaging studies are used to diagnose Lafora Disease:
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A thorough medical history and physical examination are performed to determine whether neurological dysfunction is present.
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Testing for mutations in the EPM2A and EPM2B genes associated with Lafora Disease.
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An electroencephalogram (EEG) reveals patterns of abnormal electrical activity in the brain, which can assist in making a diagnosis.
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Lafora Disease can be diagnosed using magnetic resonance imaging (MRI) of the brain.
Treatment
The goal of treatment for Lafora Disease is to manage symptoms and improve quality of life:
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Epilepsy associated with Lafora Disease may be managed with antiepileptic medications.
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Physical therapy, occupational therapy, and speech therapy may help manage symptoms and improve functional abilities.
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Counseling and support services to address emotional and psychological challenges caused by the disease for affected individuals and their families.
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To reduce the accumulation of Lafora bodies, researchers are developing novel treatment approaches, including gene therapy and targeted therapies.
Prevention
As Lafora Disease is a genetic disorder, there are currently no known methods for prevention. For those with a history of the condition, genetic counseling may be beneficial. Genetic counselors can provide information about inheritance risk and test options.
Conclusion
Symptoms of Lafora Disease include seizures, cognitive decline, and motor dysfunction. Various tissues accumulate abnormal Lafora bodies due to mutations in the EPM2A and EPM2B genes. Clinical evaluation, genetic testing, and imaging studies are used to diagnose the disease, while supportive care and symptom management are used to treat it. Families at risk can benefit from genetic counseling as part of prevention strategies.
