Short Description

SCA8 is an autosomal dominant slowly progressive ataxia with dysarthria. It usually manifests at 40 years of age with a range from 20 to 65 years. Other features include nystagmus, leg spasticity & reduced vibratory sensation. SCA8 is caused by bidirectional transcription at the SCA8 locus on chromosome 13q21 involving both an expanded CTG trinucleotide repeat in the ATXN8OS gene and the complementary CAG repeat in the ATXN8 gene (13q21).

PreTest Information

Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.

Detail Description

SCA-8 (SPINOCEREBELLAR ATAXIA): ATXN8OS & ATXN8 GENE MUTATION Test

Spinocerebellar ataxia type 8 (SCA-8) is a rare genetic disorder that affects the central nervous system. It is caused by mutations in the ATXN8OS and ATXN8 genes, which are responsible for producing proteins that are important for the proper functioning of the cerebellum. The cerebellum is the part of the brain that controls movement, balance, and coordination.

Symptoms

The symptoms of SCA-8 can vary from person to person and may include:

• Unsteady gait
• Tremors
• Difficulty with balance and coordination
• Slurred speech
• Difficulty swallowing
• Weakness in the limbs

The symptoms of SCA-8 usually appear in adulthood, typically between the ages of 30 and 50. The severity of symptoms can also vary, with some people experiencing mild symptoms while others experience more severe symptoms.

Diagnosis

Diagnosing SCA-8 can be difficult, as the symptoms can be similar to those of other neurological disorders. A diagnosis is usually made through a combination of physical examination, medical history, and genetic testing.

Genetic testing is the most reliable way to diagnose SCA-8. This involves analyzing a sample of the patient's DNA to look for mutations in the ATXN8OS and ATXN8 genes. The test is usually done using a blood sample.

Test Cost

The cost of the SCA-8 (SPINOCEREBELLAR ATAXIA): ATXN8OS & ATXN8 GENE MUTATION test in India is INR 7500. This cost may vary depending on the laboratory where the test is conducted.

Conclusion

SCA-8 is a rare genetic disorder that can cause a range of symptoms related to movement, balance, and coordination. It is caused by mutations in the ATXN8OS and ATXN8 genes, which are responsible for producing proteins that are important for the proper functioning of the cerebellum. Genetic testing is the most reliable way to diagnose SCA-8, and the cost of the test in India is INR 7500. If you are experiencing symptoms of SCA-8 or have a family history of the disorder, it is important to speak with a healthcare professional for an accurate diagnosis and appropriate treatment.

At DNA Labs India, we offer a wide range of genetic tests, including the SCA-8 (SPINOCEREBELLAR ATAXIA): ATXN8OS & ATXN8 GENE MUTATION test. Our team of experienced professionals uses the latest technology and techniques to provide accurate and reliable results. Contact us today to learn more about our services.

SCA8 is an autosomal dominant slowly progressive ataxia with dysarthria. It usually manifests at 40 years of age with a range from 20 to 65 years. Other features include nystagmus, leg spasticity & reduced vibratory sensation. SCA8 is caused by bidirectional transcription at the SCA8 locus on chromosome 13q21 involving both an expanded CTG trinucleotide repeat in the ATXN8OS gene and the complementary CAG repeat in the ATXN8 gene (13q21).