Early Infantile Epileptic Encephalopathy (EIEE), also known as Ohtahara Syndrome, is a severe form of epilepsy that appears in the first few months of a child’s life. Among the various genetic factors that contribute to this condition, mutations in the DNM1 gene have been identified as a cause of EIEE type 31. Understanding the symptoms and undergoing genetic testing for this condition can be crucial for early diagnosis and management. DNA Labs UAE offers a comprehensive genetic test for this condition, aiming to support families and healthcare providers in identifying and understanding this rare disorder.
Symptoms of DNM1 Gene Early Infantile Epileptic Encephalopathy Type 31
The symptoms of EIEE type 31 can be quite severe and typically manifest within the first three months of a baby’s life. These symptoms include, but are not limited to:
- Frequent Seizures: One of the hallmark symptoms of EIEE type 31 is the occurrence of frequent seizures that are often resistant to standard anti-seizure medications.
- Developmental Delays: Affected infants may experience significant delays in reaching developmental milestones such as sitting up, crawling, or speaking.
- Spasticity: Increased muscle tone, leading to stiffness and difficulties with movement, is common among those with this condition.
- Impaired Cognitive Function: Children with EIEE type 31 often face challenges with cognitive functions, which can impact learning and memory.
- Microcephaly: Some infants may be born with or develop microcephaly, a condition where the head is smaller than normal, indicating impaired brain growth.
DNM1 Gene Early Infantile Epileptic Encephalopathy Type 31 Genetic Test at DNA Labs UAE
Understanding the genetic basis of EIEE type 31 is crucial for accurate diagnosis and management. DNA Labs UAE offers a genetic test specifically designed to identify mutations in the DNM1 gene associated with this condition. The test involves a simple blood draw or cheek swab from the affected individual, with results typically available within a few weeks.
The cost of the DNM1 gene test at DNA Labs UAE is 4400 AED. This comprehensive test not only helps in confirming the diagnosis but also assists in guiding treatment decisions and enables families to understand the risk of recurrence in future pregnancies.
Importance of Genetic Testing for EIEE Type 31
Genetic testing for EIEE type 31 is an invaluable tool for families and healthcare providers. It offers several benefits, including:
- Early Diagnosis: Identifying the genetic cause of seizures early on can lead to a more accurate diagnosis and tailored treatment plan.
- Personalized Treatment: Understanding the genetic mutation allows for more personalized and potentially effective treatment approaches.
- Family Planning: Genetic testing provides crucial information for families considering future pregnancies, including the risk of recurrence.
- Research and Development: Identifying genetic mutations contributes to research efforts aimed at developing new treatments and understanding the disease better.
For more information about the DNM1 gene test for Early Infantile Epileptic Encephalopathy Type 31 and to schedule a testing appointment, please visit DNA Labs UAE.
Conclusion
Early Infantile Epileptic Encephalopathy type 31, caused by mutations in the DNM1 gene, is a challenging condition that affects infants from a very early age. Recognizing the symptoms and understanding the genetic underpinnings through testing are critical steps in managing this condition. DNA Labs UAE is committed to providing comprehensive support through their genetic testing services, helping families navigate the complexities of EIEE type 31 with confidence and hope.
