Short Description

SCA2 is an autosomal dominant ataxia which is mainly seen in patients from India & Cuba. It is a unique form of cerebellar degenerative disease which can arise in a wide age range of 2 to 65 years. The symptoms are similar to SCA1 but in addition , the patient also has optic disc pallor, retinal degeneration & Parkinsonian rigidity. In SCA 2 there is a CAG trinucleotide repeat in chromosome 12q which results in abnormal Ataxin-2 protein production.

PreTest Information

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

Detail Description

SCA-2 (SPINOCEREBELLAR ATAXIA): ATXN2 GENE MUTATION Test cost INR:4925 symptoms diagnosis

SCA-2 (Spinocerebellar Ataxia) is a rare genetic disorder that affects the nervous system. It is caused by mutations in the ATXN2 gene which is responsible for producing a protein called Ataxin-2. This protein is involved in the normal functioning of the cerebellum, which is the part of the brain that controls movement and coordination.

Symptoms of SCA-2

The symptoms of SCA-2 can vary widely from person to person, but generally include:

• Difficulty with balance and coordination
• Unsteady gait or walking
• Tremors or shaking
• Slurred speech
• Difficulty with fine motor skills (e.g. writing, buttoning clothes)
• Difficulty swallowing
• Problems with eye movements

The symptoms of SCA-2 usually appear in adulthood, typically between the ages of 30 and 50. The severity of the symptoms can also vary widely, with some people experiencing only mild symptoms while others may become severely disabled.

Diagnosis of SCA-2

Diagnosing SCA-2 can be challenging, as the symptoms can be similar to other neurological disorders. A diagnosis is typically made through a combination of clinical evaluations, genetic testing, and imaging studies.

Genetic testing is an important part of the diagnostic process for SCA-2. This involves analyzing a person's DNA for mutations in the ATXN2 gene. If a mutation is found, it confirms a diagnosis of SCA-2. Genetic testing can also be used to identify other family members who may be at risk of developing the disorder.

ATXN2 GENE MUTATION Test cost INR:4925

DNA Labs India offers a genetic test for the ATXN2 gene mutation that causes SCA-2. The cost of the test is INR 4925.

The test involves collecting a small sample of blood or saliva from the patient, which is then sent to the laboratory for analysis. The results of the test are typically available within a few weeks.

Conclusion

SCA-2 is a rare genetic disorder that can cause a wide range of symptoms, including difficulty with balance and coordination, tremors, and slurred speech. Genetic testing is an important part of the diagnostic process for SCA-2, and can help identify other family members who may be at risk of developing the disorder. DNA Labs India offers a genetic test for the ATXN2 gene mutation that causes SCA-2, with a cost of INR 4925.

If you or someone you know is experiencing symptoms of SCA-2, it is important to speak with a healthcare provider for proper evaluation and diagnosis.

For more information on genetic testing and other diagnostic services offered by DNA Labs India, visit our website or contact us today.

SCA2 is an autosomal dominant ataxia which is mainly seen in patients from India & Cuba. It is a unique form of cerebellar degenerative disease which can arise in a wide age range of 2 to 65 years. The symptoms are similar to SCA1 but in addition , the patient also has optic disc pallor, retinal degeneration & Parkinsonian rigidity. In SCA 2 there is a CAG trinucleotide repeat in chromosome 12q which results in abnormal Ataxin-2 protein production.