Spinocerebellar Ataxia Type 5 (SCA-5) is a rare, inherited condition that affects the cerebellum, the part of the brain responsible for controlling movement. This condition is caused by mutations in the SPTBN2 gene, which plays a crucial role in the development and maintenance of the cerebellum. Individuals with SCA-5 experience a progressive loss of coordination and balance, which can significantly impact their daily lives. Understanding the symptoms and getting tested for the SPTBN2 gene mutation is essential for managing the condition and planning for the future.
Symptoms of SCA-5 Spinocerebellar Ataxia
The symptoms of SCA-5 typically begin in adulthood, although the age of onset can vary widely among affected individuals. The primary symptoms are related to cerebellar dysfunction and include:
- Difficulty with coordination and balance, leading to frequent falls
- Unsteady gait and difficulty walking
- Impaired fine motor skills, such as difficulty writing or buttoning clothes
- Slow and slurred speech
- Eye movement abnormalities
- Muscle stiffness and spasms
As SCA-5 progresses, symptoms may worsen, and new symptoms may emerge. It’s important to note that the severity and progression of symptoms can vary significantly from person to person.
SPTBN2 Gene Mutation Test
To diagnose SCA-5, a genetic test for the SPTBN2 gene mutation is necessary. This test involves analyzing a sample of the individual’s blood to look for the specific genetic mutation associated with the condition. DNA Labs UAE offers the SCA-5 Spinocerebellar Ataxia SPTBN2 Gene Mutation Test, which is a reliable method for confirming the diagnosis of SCA-5.
The test is straightforward and involves collecting a small blood sample from the individual. The sample is then sent to the laboratory, where it is analyzed for the presence of the SPTBN2 gene mutation. The results of the test can provide individuals and their families with crucial information for understanding their condition and planning for the future.
Test Cost
The cost of the SCA-5 Spinocerebellar Ataxia SPTBN2 Gene Mutation Test at DNA Labs UAE is 1290 AED. This cost includes the collection of the blood sample, analysis in the laboratory, and a comprehensive report of the findings. It’s important for individuals considering this test to consult with their healthcare provider to discuss the implications of the results and to plan for any necessary follow-up care.
Conclusion
SCA-5 is a challenging condition that can significantly impact an individual’s quality of life. However, understanding the symptoms and getting tested for the SPTBN2 gene mutation can help in managing the condition effectively. DNA Labs UAE provides a reliable testing service for those concerned about SCA-5, offering peace of mind and the information needed to make informed decisions about their health and future. For more information about the test and to schedule an appointment, visit DNA Labs UAE.
