Understanding the symptoms of specific genetic conditions is crucial for early diagnosis and management. One such condition is Early Infantile Epileptic Encephalopathy Type 23 (EIEE23), which is associated with mutations in the DOCK7 gene. This condition, characterized by early-onset seizures and developmental delay, poses significant challenges to affected individuals and their families. Recognizing the symptoms early can lead to timely genetic testing and intervention, potentially improving outcomes. DNA Labs UAE offers a comprehensive genetic test for EIEE23, designed to identify mutations in the DOCK7 gene, providing essential information for diagnosis and management.
Symptoms of DOCK7 Gene Early Infantile Epileptic Encephalopathy Type 23
EIEE23, caused by mutations in the DOCK7 gene, manifests with a range of neurological symptoms. These symptoms are often severe and can significantly impact the quality of life of affected individuals. Recognizing these symptoms is the first step towards diagnosis and management.
- Early-Onset Seizures: One of the hallmark symptoms of EIEE23 is the onset of seizures within the first few months of life. These seizures are often resistant to standard anti-epileptic drugs, making management challenging.
- Developmental Delay: Children with EIEE23 typically exhibit significant developmental delays. Milestones related to movement, speech, and social skills may be markedly delayed or not achieved at all.
- Muscle Tone Abnormalities: Abnormal muscle tone, either too high (hypertonia) or too low (hypotonia), is common in individuals with EIEE23. This can affect movement and posture, contributing to the developmental delays observed.
- Intellectual Disability: Most individuals with EIEE23 experience some degree of intellectual disability, which can range from mild to severe. This is likely due to the combined impact of seizures, developmental delays, and other neurological abnormalities.
- Autistic Behaviors: Some individuals with EIEE23 may exhibit behaviors associated with autism spectrum disorders, such as difficulties with social interactions and repetitive behaviors.
DOCK7 Gene Early Infantile Epileptic Encephalopathy Type 23 Genetic Test
DNA Labs UAE offers a genetic test specifically designed to identify mutations in the DOCK7 gene, which are responsible for EIEE23. This test is a crucial tool for confirming the diagnosis in individuals presenting with the symptoms described above. By identifying the genetic basis of the condition, healthcare providers can tailor management strategies to the needs of the individual, potentially improving outcomes.
The cost of the DOCK7 Gene Early Infantile Epileptic Encephalopathy Type 23 Genetic Test at DNA Labs UAE is 4400 AED. This investment includes a comprehensive analysis of the DOCK7 gene to detect mutations associated with EIEE23. Given the complexity and severity of the condition, the genetic test provides valuable insights that can guide clinical decisions and support families in understanding their loved one’s condition.
For more information on the DOCK7 Gene Early Infantile Epileptic Encephalopathy Type 23 Genetic Test, including how to order the test, please visit DNA Labs UAE.
Conclusion
Early Infantile Epileptic Encephalopathy Type 23 is a challenging condition that requires early diagnosis and comprehensive management. Recognizing the symptoms associated with mutations in the DOCK7 gene is the first step towards seeking appropriate care. The genetic test offered by DNA Labs UAE provides a critical tool for confirming the diagnosis and facilitating tailored management approaches. With a cost of 4400 AED, this test represents a significant step forward in the care of individuals with EIEE23, offering hope for improved outcomes and quality of life.
