Spinocerebellar ataxia type 35 (SCA35), caused by mutations in the TGM6 gene, is a rare genetic disorder that affects the nervous system. It is characterized by a progressive loss of coordination and balance, which are hallmark symptoms of conditions affecting the cerebellum – the part of the brain that controls movement coordination. Understanding the symptoms and genetic underpinnings of SCA35 is crucial for affected individuals and their families, as it can guide management and treatment strategies. DNA Labs UAE offers a comprehensive genetic test for the TGM6 gene mutation, providing a crucial diagnostic tool for families affected by this condition.
Symptoms of TGM6 Gene Spinocerebellar Ataxia Type 35
The symptoms of SCA35 typically manifest in adulthood, although the age of onset can vary widely among individuals. These symptoms gradually worsen over time, reflecting the progressive nature of the disease. Key symptoms include:
- Difficulty with coordination and balance, leading to frequent falls
- Impaired fine motor skills, affecting activities such as writing or buttoning shirts
- Slow and slurred speech
- Eye movement abnormalities
- Rigid muscles and muscle cramps
- Deterioration in cognitive functions in some cases
It’s important to note that the severity and progression of these symptoms can vary widely among affected individuals. Some may experience mild symptoms for many years, while others may face significant impairments that affect their daily lives.
Genetic Testing for TGM6 Gene Mutation
Genetic testing for the TGM6 gene mutation is essential for the accurate diagnosis of SCA35. DNA Labs UAE offers a comprehensive TGM6 Gene Spinocerebellar Ataxia Type 35 Autosomal Dominant Genetic Test that can confirm the presence of the mutation responsible for the condition. This test is particularly valuable for individuals with a family history of SCA35 or those exhibiting symptoms consistent with the disorder.
The test involves a simple blood draw or saliva sample, which is then analyzed in the laboratory to detect the presence of the TGM6 gene mutation. The results of this test can provide individuals and their families with crucial information regarding the diagnosis, potential progression, and management of SCA35.
Test Cost
The cost of the TGM6 Gene Spinocerebellar Ataxia Type 35 Autosomal Dominant Genetic Test at DNA Labs UAE is 4400 AED. While the cost may seem significant, the value of an accurate diagnosis cannot be overstated. It opens the door to tailored management strategies, potential treatment options, and genetic counseling for family members who may also be at risk.
Conclusion
Spinocerebellar ataxia type 35 is a challenging condition, both in terms of its symptoms and its impact on affected individuals and their families. However, advancements in genetic testing, such as the TGM6 gene test offered by DNA Labs UAE, provide hope for accurate diagnosis and the possibility of better management of the condition. By understanding the symptoms associated with SCA35 and utilizing available genetic testing options, individuals can take proactive steps towards managing the condition and improving their quality of life.
