Short Description

SCA6 is an autosomal dominant ataxia with vibratory & proprioceptive sensory loss. It manifests later in life and is associated with cerebellar degeneration. In SCA 6 there is a CAG trinucleotide repeat in chromosome 19p which results in abnormal CACNA1A protein. Missense mutations in the same gene cause Familial hemiplegic migraine while nonsense mutations result in Hereditary paroxysmal cerebellar ataxia or Episodic ataxia.

PreTest Information

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

Detail Description

SCA-6 (SPINOCEREBELLAR ATAXIA): CACNA1A GENE MUTATION Test Cost INR:4000 Symptoms Diagnosis

SCA-6 or Spinocerebellar Ataxia Type 6 is a rare genetic disorder that affects the nervous system. This condition is caused by a mutation in the CACNA1A gene, which is responsible for producing a protein that helps regulate the flow of calcium ions in the brain. This type of ataxia is characterized by progressive problems with coordination and balance, as well as other symptoms.

What are the Symptoms of SCA-6?

The symptoms of SCA-6 can vary from person to person. They usually begin in adulthood, typically between the ages of 40 and 50. Some of the most common symptoms of SCA-6 include:

• Problems with coordination and balance
• Trouble walking
• Difficulty speaking
• Abnormal eye movements
• Headaches and migraines
• Vertigo and dizziness

How is SCA-6 Diagnosed?

SCA-6 is usually diagnosed based on a combination of symptoms, medical history, and genetic testing. A doctor will perform a physical exam to look for signs of ataxia, and may also order tests such as an MRI or CT scan to evaluate the brain and nervous system. Genetic testing can confirm a diagnosis of SCA-6 by identifying the CACNA1A gene mutation.

What is the Cost of SCA-6 Testing?

The cost of genetic testing for SCA-6 in India is typically around INR 4000. However, the cost may vary depending on the specific laboratory and testing methods used. It is important to consult with a healthcare provider or genetic counselor to discuss the potential benefits and limitations of genetic testing, as well as any associated costs.

Conclusion

SCA-6 is a rare genetic disorder that affects the nervous system and can cause problems with coordination, balance, and other symptoms. Genetic testing can help confirm a diagnosis of SCA-6 by identifying the CACNA1A gene mutation, and is typically available for around INR 4000 in India. If you or a loved one are experiencing symptoms of ataxia, it is important to consult with a healthcare provider to determine the best course of action for diagnosis and treatment.

SCA6 is an autosomal dominant ataxia with vibratory & proprioceptive sensory loss. It manifests later in life and is associated with cerebellar degeneration. In SCA 6 there is a CAG trinucleotide repeat in chromosome 19p which results in abnormal CACNA1A protein. Missense mutations in the same gene cause Familial hemiplegic migraine while nonsense mutations result in Hereditary paroxysmal cerebellar ataxia or Episodic ataxia.