Understanding the complexities of genetic disorders is crucial for early diagnosis and management. Among these, the GNAO1 gene mutation leading to Early Infantile Epileptic Encephalopathy Type 17 (EIEE17) is a significant concern for many parents and healthcare providers. DNA Labs UAE is at the forefront of providing comprehensive genetic testing services, including tests for the GNAO1 mutation, to help in the early detection and management of this condition.
EIEE17 is a rare neurological disorder that affects infants and is characterized by a spectrum of symptoms primarily involving epileptic seizures and developmental delays. The condition is caused by mutations in the GNAO1 gene, which plays a critical role in signaling pathways within the brain. Understanding the symptoms and undergoing genetic testing can be pivotal for affected families.
Symptoms of GNAO1 Gene Early Infantile Epileptic Encephalopathy Type 17
The symptoms of EIEE17 can vary significantly among affected individuals but generally include a combination of the following:
- Epileptic Seizures: These can range from mild to severe and are often resistant to traditional seizure medications.
- Developmental Delays: Affected infants may experience delays in reaching developmental milestones such as sitting, crawling, or walking.
- Movement Disorders: Abnormal movements, including dystonia (involuntary muscle contractions) and choreoathetosis (involuntary, rapid, jerky movements), are common.
- Intellectual Disability: Many children with EIEE17 will have some degree of intellectual disability, which can vary from mild to severe.
- Behavioral Issues: Some children may exhibit behavioral problems, including irritability, agitation, and in some cases, autistic behaviors.
It’s important to note that the severity and combination of these symptoms can vary widely among individuals with EIEE17. Early diagnosis through genetic testing can aid in the management of the condition and in some cases, help mitigate the severity of the symptoms.
Genetic Testing for GNAO1 Gene Mutation
DNA Labs UAE offers a comprehensive genetic test for the GNAO1 mutation, specifically designed to identify the presence of mutations associated with EIEE17. This test is a critical step for families seeking answers to unexplained symptoms of epilepsy and developmental delay in their children.
The cost of the GNAO1 Gene Early Infantile Epileptic Encephalopathy Type 17 Genetic Test is 4400 AED. This investment in your child’s health can provide crucial information for the management of the condition, including tailored treatment plans and supportive therapies that can improve the quality of life for affected individuals.
For more information and to schedule a test, visit DNA Labs UAE.
In conclusion, understanding and managing EIEE17 requires a comprehensive approach that includes awareness of the symptoms and genetic testing. DNA Labs UAE is committed to providing the necessary support and services to families affected by this condition, offering hope and assistance in navigating the challenges of EIEE17.
