Short Description

SCA23 is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). ADCA I is characterized by cerebellar ataxia in combination with various associated neurologic features, such as ophthalmoplegia, pyramidal and extrapyramidal signs, peripheral neuropathy and dementia among others. SCA-23 is an adult-onset neurodegenerative disorder characterized by slowly progressive gait and limb ataxia, with variable additional features, including peripheral neuropathy and dysarthria. Majority are caused by heterozygous mutations in exon 4 of PDYN gene.

PreTest Information

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

Detail Description

SCA-23 (SPINOCEREBELLAR ATAXIA): PDYN GENE MUTATION Test cost INR:7500 symptoms diagnosis

SCA-23, also known as Spinocerebellar Ataxia Type 23, is a rare genetic disorder that affects the nervous system. It is caused by a mutation in the PDYN gene, which provides instructions for making a protein called prodynorphin. This protein is involved in the regulation of pain and mood, as well as movement and coordination.

Symptoms of SCA-23

The symptoms of SCA-23 can vary widely from person to person, even within the same family. However, some common symptoms include:

• Problems with balance and coordination
• Difficulty walking
• Trouble with fine motor skills, such as writing or buttoning clothes
• Slurred speech
• Difficulty swallowing
• Changes in mood or behavior

The symptoms of SCA-23 usually develop gradually over time, and may worsen as the disease progresses.

Diagnosis of SCA-23

Diagnosing SCA-23 can be challenging, as the symptoms can be similar to those of other neurological disorders. However, a genetic test can confirm the presence of the PDYN gene mutation. This test involves analyzing a sample of the patient's DNA, usually taken from a blood sample or cheek swab.

Cost of SCA-23 Genetic Test

The cost of the SCA-23 genetic test in India is around INR 7500. This cost may vary depending on the laboratory and location.

Conclusion

SCA-23 is a rare genetic disorder that can cause a variety of neurological symptoms. If you or a loved one are experiencing any of these symptoms, it is important to speak with a healthcare provider to determine the cause and appropriate treatment. A genetic test may be necessary to confirm a diagnosis of SCA-23, and the cost of this test in India is around INR 7500.

If you are looking for a reliable and accurate genetic testing laboratory in India, DNA Labs India is a leading provider of genetic testing services. Our team of experts can help you get the answers you need to make informed decisions about your health. Contact us today to learn more.

SCA23 is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). ADCA I is characterized by cerebellar ataxia in combination with various associated neurologic features, such as ophthalmoplegia, pyramidal and extrapyramidal signs, peripheral neuropathy and dementia among others. SCA-23 is an adult-onset neurodegenerative disorder characterized by slowly progressive gait and limb ataxia, with variable additional features, including peripheral neuropathy and dysarthria. Majority are caused by heterozygous mutations in exon 4 of PDYN gene.