Symptoms of EPM2A Gene Myoclonic Epilepsy of Lafora
Myoclonic Epilepsy of Lafora, also known as Lafora Disease, is a rare and severe form of progressive myoclonus epilepsy. This genetic disorder is characterized by the presence of Lafora bodies, which are abnormal glycogen inclusions within cells. The disease typically manifests in late childhood or adolescence and progresses rapidly. It is caused by mutations in the EPM2A gene, among others, which plays a crucial role in glycogen metabolism. Recognizing the symptoms early can be crucial for management and treatment strategies.
Key Symptoms
The symptoms of Myoclonic Epilepsy of Lafora typically start to appear during late childhood or adolescence, usually between the ages of 10 and 17. These include:
- Myoclonus: Sudden, involuntary muscle jerks that are the hallmark of the condition.
- Seizures: Various types of seizures can occur, not just myoclonic seizures. These can become more frequent and severe as the disease progresses.
- Progressive neurological decline: This includes difficulty with memory, thought processes, and motor skills.
- Behavioral changes: Personality changes, depression, and psychosis may occur.
- Difficulty with movement and coordination: This may include ataxia, which is a lack of muscle coordination.
- Visual disturbances: Loss of vision or difficulty processing visual information can occur as the disease progresses.
It is important to note that the progression and severity of these symptoms can vary among individuals with the condition.
Genetic Testing for Myoclonic Epilepsy of Lafora
Genetic testing plays a crucial role in diagnosing Myoclonic Epilepsy of Lafora. The test specifically looks for mutations in the EPM2A gene. Identifying mutations in this gene can confirm the diagnosis and help in understanding the disease progression and planning management strategies. It can also provide valuable information for family planning.
Test Cost
The cost of the EPM2A Gene Myoclonic Epilepsy of Lafora Genetic Test is 4400 AED. While the cost may seem high, it’s crucial for accurate diagnosis and subsequent management of the condition. Early diagnosis can significantly impact the quality of life and the progression of symptoms for those affected.
Why Choose DNA Labs UAE?
DNA Labs UAE is a leading provider of genetic testing services, offering a wide range of tests, including the EPM2A Gene Myoclonic Epilepsy of Lafora Genetic Test. With state-of-the-art technology and a team of expert geneticists, DNA Labs UAE ensures accurate and reliable results. For more information on the test and to schedule an appointment, visit DNA Labs UAE.
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