Hydrocephalus is a condition characterized by an abnormal accumulation of cerebrospinal fluid (CSF) within the ventricles, or cavities, of the brain. This can lead to increased intracranial pressure inside the skull, potentially causing progressive enlargement of the head, convulsions, and mental disability. Hydrocephalus can be congenital or acquired, with various genetic factors playing a crucial role in its development. One such genetic condition is Hydrocephalus Nonsyndromic Autosomal Recessive Type 1, which is linked to mutations in the CCDC88C gene.
Understanding the symptoms and undergoing early genetic testing can be pivotal in managing and potentially mitigating the impacts of this condition. DNA Labs UAE offers a comprehensive genetic test for diagnosing CCDC88C Gene Hydrocephalus Nonsyndromic Autosomal Recessive Type 1, providing families and healthcare providers with essential information for early intervention and management strategies.
Symptoms of CCDC88C Gene Hydrocephalus Nonsyndromic Autosomal Recessive Type 1
The symptoms associated with this genetic form of hydrocephalus can vary widely among affected individuals. However, some common signs and symptoms may include:
- Abnormal enlargement of the head
- Delays in physical and mental development
- Vomiting and nausea due to increased intracranial pressure
- Downward deviation of the eyes
- Seizures in some cases
- Difficulty in feeding and irritability in infants
- Sleepiness or lethargy
- Poor muscle tone and strength
- Problems with coordination and balance
It’s important to note that the severity and combination of these symptoms can vary, and not all individuals with the mutation will exhibit all these symptoms.
Genetic Testing for CCDC88C Gene Hydrocephalus
Genetic testing plays a crucial role in diagnosing Hydrocephalus Nonsyndromic Autosomal Recessive Type 1. The test specifically looks for mutations in the CCDC88C gene, which are known to cause this condition. By identifying these mutations, healthcare providers can confirm the diagnosis, allowing for early intervention and management of the disease.
DNA Labs UAE is at the forefront of providing this essential genetic testing service. The test is available for a cost of 4400 AED. This test not only aids in the diagnosis but also helps in family planning and understanding the risks for future children in affected families.
For more information on the CCDC88C Gene Hydrocephalus Nonsyndromic Autosomal Recessive Type 1 Genetic Test and to schedule a test, please visit DNA Labs UAE.
Conclusion
Hydrocephalus Nonsyndromic Autosomal Recessive Type 1, caused by mutations in the CCDC88C gene, is a condition that can significantly impact an individual’s quality of life. Early diagnosis through genetic testing can provide families with crucial information for managing the condition effectively. DNA Labs UAE offers this comprehensive genetic test, providing a valuable resource for affected families and their healthcare providers. By understanding the symptoms and undergoing genetic testing, individuals can take proactive steps towards managing the condition and improving outcomes.
