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 genes linked to this condition, TBC1D24 plays a significant role. Mutations in the TBC1D24 gene can lead to Early Infantile Epileptic Encephalopathy Type 16 (EIEE16), a specific subtype of the disease. Understanding the symptoms and undergoing genetic testing for mutations in the TBC1D24 gene can be crucial for early diagnosis and management of the condition.
Symptoms of TBC1D24 Gene Mutation Leading to EIEE16
The symptoms of EIEE16 due to mutations in the TBC1D24 gene are severe and typically manifest early in life. These symptoms include:
- Frequent seizures: Infants with EIEE16 experience frequent seizures that are often resistant to standard antiepileptic drugs.
- Developmental delay: Affected children show significant delays in reaching developmental milestones.
- Intellectual disability: There is often a degree of intellectual disability that may vary from mild to severe.
- Motor impairment: Many children with EIEE16 have difficulties with motor skills, including sitting, standing, or walking.
- Hypotonia: Low muscle tone, or hypotonia, is a common symptom, making the muscles feel soft and floppy.
- Ataxia: Some individuals may experience ataxia, a lack of muscle coordination that affects speech, eye movements, and the ability to swallow.
Importance of Genetic Testing for TBC1D24 Gene Mutations
Genetic testing for mutations in the TBC1D24 gene is vital for several reasons. It helps in confirming the diagnosis of EIEE16, which is crucial for the management and treatment of the condition. Early diagnosis through genetic testing allows for the implementation of appropriate therapies and interventions that can significantly improve the quality of life for affected individuals. Furthermore, it provides valuable information for family planning and understanding the risk of recurrence in future pregnancies.
TBC1D24 Gene Early Infantile Epileptic Encephalopathy Type 16 Genetic Test
DNA Labs UAE offers a comprehensive genetic test for the TBC1D24 gene mutation, specifically designed to diagnose EIEE16. This test is an essential tool for families seeking answers about this severe condition. The cost of the test is 4400 AED, an investment in gaining crucial insights into the genetic underpinnings of the disease. Early diagnosis and intervention can make a significant difference in the management of symptoms and the overall prognosis.
Conclusion
Early Infantile Epileptic Encephalopathy Type 16, caused by mutations in the TBC1D24 gene, is a severe condition that affects infants from a very early age. Recognizing the symptoms and understanding the importance of genetic testing are critical steps towards managing this challenging condition. DNA Labs UAE provides a specialized genetic test for EIEE16, offering hope and support to families affected by this rare but severe form of epilepsy. For more information and to access the test, please visit DNA Labs UAE.
