Short Description

SCA14 is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) . SCA14 is characterized by slowly progressive cerebellar ataxia, dysarthria, and nystagmus. Axial myoclonus, cognitive impairment, tremor and sensory loss may also be observed. Parkinsonian features including rigidity and tremor have been described in some families. This test detects mutations in exon 4 which is a mutation hotspot in SCA14.

PreTest Information

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

Detail Description

SCA-14 (SPINOCEREBELLAR ATAXIA): PRKCG GENE MUTATION Test

Spinocerebellar ataxia (SCA) is a rare genetic disorder that affects the nervous system, causing problems with movement and balance. There are many different types of SCA, each caused by a different gene mutation. SCA-14 is caused by a mutation in the PRKCG gene, which provides instructions for making a protein called protein kinase C gamma.

SCA-14 is a rare form of the disorder, and it can be difficult to diagnose. Symptoms of SCA-14 may include:

• Difficulty with coordination and balance
• Trouble walking or standing
• Uncontrolled eye movements
• Trouble speaking
• Difficulty with fine motor skills, such as writing or buttoning clothes

If you are experiencing any of these symptoms, it is important to see a doctor right away. Your doctor may recommend genetic testing to determine if you have the PRKCG gene mutation that causes SCA-14.

PRKCG GENE MUTATION Test Cost

The cost of the PRKCG gene mutation test for SCA-14 at DNA Labs India is INR 7500.

Symptoms of SCA-14

SCA-14 can cause a variety of symptoms, including:

• Difficulty with coordination and balance
• Trouble walking or standing
• Uncontrolled eye movements
• Trouble speaking
• Difficulty with fine motor skills, such as writing or buttoning clothes

These symptoms can range from mild to severe, and they may worsen over time. It is important to see a doctor if you are experiencing any of these symptoms, as they may be a sign of a serious underlying condition.

Diagnosis of SCA-14

Diagnosing SCA-14 can be difficult, as the symptoms can be similar to those of other neurological disorders. Your doctor may use a variety of tests to help diagnose SCA-14, including:

• Physical exam
• Neurological exam
• Genetic testing
• Brain imaging, such as MRI or CT scans

If you are diagnosed with SCA-14, your doctor may recommend a variety of treatments to help manage your symptoms. These may include medications, physical therapy, and occupational therapy.

Conclusion

If you are experiencing symptoms of SCA-14, it is important to see a doctor right away. Your doctor may recommend genetic testing to determine if you have the PRKCG gene mutation that causes SCA-14. The cost of the PRKCG gene mutation test at DNA Labs India is INR 7500. With early diagnosis and treatment, it is possible to manage the symptoms of SCA-14 and maintain a good quality of life.

For more information on SCA-14 and other genetic disorders, contact DNA Labs India today.

SCA14 is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) . SCA14 is characterized by slowly progressive cerebellar ataxia, dysarthria, and nystagmus. Axial myoclonus, cognitive impairment, tremor and sensory loss may also be observed. Parkinsonian features including rigidity and tremor have been described in some families. This test detects mutations in exon 4 which is a mutation hotspot in SCA14.