Spinocerebellar ataxia type 8 (SCA-8) is a genetic disorder characterized by progressive coordination problems and other neurological symptoms. It is caused by mutations in the ATXN8OS and ATXN8 genes. Understanding the symptoms of SCA-8 and the availability of genetic testing can be crucial for individuals and families affected by this condition. DNA Labs UAE offers comprehensive testing for the ATXN8OS and ATXN8 gene mutations, helping to provide a definitive diagnosis of SCA-8.
Symptoms of SCA-8 Spinocerebellar Ataxia
SCA-8 is a progressive condition, meaning symptoms can worsen over time. The onset of symptoms typically occurs in adulthood, but the range of onset can vary widely among affected individuals. Common symptoms include:
- Difficulty with coordination and balance (ataxia)
- Slurred speech (dysarthria)
- Nystagmus, which is rapid, involuntary movements of the eyes
- Problems with muscle tone, either too stiff or too floppy
- Difficulty swallowing (dysphagia)
- Cognitive impairment, although this varies widely among individuals
These symptoms result from degeneration in the cerebellum, the part of the brain that is responsible for coordinating movement. As SCA-8 progresses, individuals may require assistance with daily activities and mobility.
ATXN8OS and ATXN8 Gene Mutation Test
DNA Labs UAE provides a genetic test for mutations in the ATXN8OS and ATXN8 genes, which are known to cause SCA-8. This test is essential for individuals who have a family history of SCA-8 or who exhibit symptoms consistent with the disorder. A definitive genetic diagnosis can help guide treatment and management decisions, inform family planning, and provide a clearer prognosis.
The test involves collecting a small sample of blood or saliva from the individual. This sample is then analyzed in the lab for the presence of the specific gene mutations associated with SCA-8. The process is straightforward and is performed with the highest standards of accuracy and confidentiality.
Test Cost
The cost of the ATXN8OS and ATXN8 gene mutation test at DNA Labs UAE is 1290 AED. This price includes the cost of sample collection, genetic analysis, and a comprehensive report of the findings. The report will detail the presence or absence of the gene mutations associated with SCA-8 and provide guidance on next steps for individuals and families.
Conclusion
Spinocerebellar ataxia type 8 is a challenging condition, but understanding its symptoms and having access to genetic testing can empower affected individuals and their families. The ATXN8OS and ATXN8 gene mutation test offered by DNA Labs UAE is a critical resource for those seeking answers about this condition. For more information about this test and to schedule an appointment, visit DNA Labs UAE.
