Short Description

SCA11 is a subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs. ADCA III is an autosomal dominant cerebellar ataxia, relatively benign, late-onset, slowly progressive neurologic disorder characterized by an uncomplicated cerebellar syndrome. SCA11 is characterized by progressive cerebellar ataxia and abnormal eye signs (jerky pursuit, horizontal and vertical nystagmus). Pyramidal features, peripheral neuropathy and dystonia are seen occasionally. This test targets the exon 12 of TTBK2 gene.

PreTest Information

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

Detail Description

SCA-11 (SPINOCEREBELLAR ATAXIA): TTBK2 GENE MUTATION Test cost INR:7500 symptoms diagnosis

SCA-11 is a rare genetic disorder that affects the nervous system. This disease is caused by a mutation in the TTBK2 gene. The TTBK2 gene is responsible for producing a protein that is important for the normal functioning of nerve cells. When this gene is mutated, it can lead to the degeneration of nerve cells in the cerebellum, which is the part of the brain that controls movement.

Symptoms of SCA-11

The symptoms of SCA-11 can vary from person to person. Some of the most common symptoms include:

• Unsteadiness and loss of coordination
• Tremors
• Difficulty with speech and swallowing
• Problems with balance
• Difficulty with fine motor skills
• Vision problems

Diagnosis of SCA-11

SCA-11 is diagnosed through genetic testing. A sample of blood or tissue is taken from the patient and analyzed for mutations in the TTBK2 gene. If a mutation is found, it confirms a diagnosis of SCA-11.

TTBK2 GENE MUTATION Test cost INR:7500

The cost of the TTBK2 gene mutation test for SCA-11 in India is INR 7500. This test can be ordered by a doctor or genetic counselor and can be performed at DNA Labs India.

Conclusion

If you or a loved one is experiencing symptoms of SCA-11, it is important to speak with a doctor or genetic counselor about the possibility of genetic testing. The TTBK2 gene mutation test can confirm a diagnosis of SCA-11 and help guide treatment and management of the disease. DNA Labs India offers affordable and reliable genetic testing for SCA-11 in India.

SCA11 is a subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs. ADCA III is an autosomal dominant cerebellar ataxia, relatively benign, late-onset, slowly progressive neurologic disorder characterized by an uncomplicated cerebellar syndrome. SCA11 is characterized by progressive cerebellar ataxia and abnormal eye signs (jerky pursuit, horizontal and vertical nystagmus). Pyramidal features, peripheral neuropathy and dystonia are seen occasionally. This test targets the exon 12 of TTBK2 gene.