Short Description

SCA3 (Machado-Joseph disease) is an autosomal dominant ataxia being one of the most common among majority of populations. It is classified into 3 types namely- Type I (Amotrophic lateral sclerosis-Parkinsonism-Dystonia type) Type II (Ataxic type) & Type III (Ataxic-Amyotrophic type). Mean age of onset of SCA3 is 25 years and patients have severe debilitation by 15 years from the age of onset in types I & II. In SCA 3 there is a CAG trinucleotide repeat in chromosome 14q which results in abnormal Ataxin-3 protein production.

PreTest Information

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Detail Description

SCA-3 (SPINOCEREBELLAR ATAXIA): ATXN3 GENE MUTATION Test cost INR:4000 symptoms diagnosis

Spinocerebellar ataxia (SCA) is a group of inherited disorders that affect the cerebellum and spinal cord. SCA-3, also known as Machado-Joseph disease, is one of the most common types of SCA. It is caused by a mutation in the ATXN3 gene and is characterized by progressive ataxia, or loss of coordination and balance.

Symptoms

The symptoms of SCA-3 can vary from person to person and may include:

• Loss of coordination and balance
• Tremors
• Speech difficulties
• Difficulty swallowing
• Problems with eye movements
• Weakness in the limbs
• Numbness or tingling in the extremities

Diagnosis

SCA-3 is usually diagnosed through a combination of physical examination, medical history, and genetic testing. A genetic test can determine whether a person has the ATXN3 gene mutation that causes SCA-3.

Other tests that may be used to diagnose SCA-3 include:

• Brain imaging tests, such as magnetic resonance imaging (MRI) or computed tomography (CT) scans
• Electromyography (EMG) to test nerve and muscle function
• Nerve conduction studies to measure the speed of nerve impulses

Test cost

The cost of the ATXN3 gene mutation test for SCA-3 in India is INR 4000.

Conclusion

If you or a loved one are experiencing symptoms of SCA-3, it is important to seek medical attention. A genetic test can help diagnose the condition and determine the best course of treatment. DNA Labs India offers affordable genetic testing for SCA-3 and other genetic disorders.

Remember, early diagnosis and treatment can help improve outcomes and quality of life for those with SCA-3.

Contact DNA Labs India today to schedule your genetic testing appointment.

SCA3 (Machado-Joseph disease) is an autosomal dominant ataxia being one of the most common among majority of populations. It is classified into 3 types namely- Type I (Amotrophic lateral sclerosis-Parkinsonism-Dystonia type); Type II (Ataxic type) & Type III (Ataxic-Amyotrophic type). Mean age of onset of SCA3 is 25 years and patients have severe debilitation by 15 years from the age of onset in types I & II. In SCA 3 there is a CAG trinucleotide repeat in chromosome 14q which results in abnormal Ataxin-3 protein production.