Spinocerebellar ataxia type 18 (SCA18) is a rare, inherited neurological disorder characterized by a variety of symptoms resulting from the degeneration of the cerebellum and its associated pathways in the brain. This condition is caused by mutations in the GRID2 gene and follows an autosomal recessive pattern of inheritance. Understanding the symptoms and the availability of genetic testing is crucial for affected families. DNA Labs UAE offers a comprehensive genetic test for SCA18, helping individuals and families navigate the complexities of this condition.
Symptoms of GRID2 Gene Spinocerebellar Ataxia Type 18
SCA18 presents with a range of symptoms that generally begin in childhood or adolescence, although onset can vary. The primary feature of SCA18 is ataxia, or lack of voluntary coordination of muscle movements, which significantly affects gait and manual dexterity. The symptoms of SCA18 include:
- Difficulty with coordination and balance, leading to frequent falls
- Slow eye movements or difficulty controlling eye movements
- Slurred speech and difficulty swallowing
- Muscle stiffness and spasms
- Decreased sensation in the extremities
- Cognitive impairment in some cases, though this is less common
As the disease progresses, individuals may require assistance with walking and performing daily activities. The variability in symptom onset and progression makes early diagnosis and intervention essential.
Autosomal Recessive Genetic Test for GRID2 Gene Mutation
Understanding the genetic basis of SCA18 is crucial for accurate diagnosis and management. DNA Labs UAE offers a specialized genetic test that analyzes the GRID2 gene for mutations known to cause Spinocerebellar Ataxia Type 18. This test is essential for individuals showing symptoms of SCA18, as well as for family members who may be carriers of the condition.
The test involves a simple blood draw or cheek swab, after which the sample is analyzed for specific genetic changes in the GRID2 gene. A positive result indicates the presence of a mutation that causes SCA18, providing a definitive diagnosis for the affected individual. This information is invaluable for guiding treatment decisions, understanding the course of the disease, and making informed family planning choices.
Cost of the Genetic Test
The cost of the GRID2 gene Spinocerebellar Ataxia Type 18 autosomal recessive genetic test at DNA Labs UAE is 4400 AED. This cost includes the genetic analysis, a comprehensive report of the findings, and a consultation to discuss the results and implications for the individual and their family. Given the complexity of genetic information, the consultation is a crucial component of the testing process, ensuring that individuals fully understand their results and the potential next steps.
Conclusion
Spinocerebellar ataxia type 18 is a challenging condition, but understanding its genetic basis opens the door to accurate diagnosis, informed management, and supportive care. DNA Labs UAE is committed to providing individuals and families with the information and support they need to navigate the complexities of SCA18. For more information on the GRID2 gene Spinocerebellar Ataxia Type 18 autosomal recessive genetic test, please visit our website.
