Short Description

Spinal-bulbar muscular atrophy (SBMA) is a progressive neurodegenerative disorder resulting in muscle cramps and progressive weakness due to degeneration of motor neurons in the brainstem and spinal cord. Age of onset and severity of manifestations in affected males vary from adolescence to old age, but most commonly develop in mid-adult life. The syndrome has neuromuscular and endocrine manifestations. Genetically it is caused by a trinucleotide CAG repeat expansion in exon 1 of the gene encoding the androgen receptor AR.

PreTest Information

Duly filled Genomics Clinical information requisition form (Form 20) is mandatory.

Detail Description

SPINO-BULBAR MUSCULAR ATROPHY Test Cost, Symptoms, and Diagnosis in India

Spino-bulbar muscular atrophy (SBMA), also known as Kennedy's disease, is a rare genetic disorder that affects the nerves and muscles. It primarily affects males and is caused by a mutation in the androgen receptor gene. The symptoms of SBMA usually appear in adulthood and gradually worsen over time. If you or a loved one is experiencing symptoms of SBMA, it is important to get a proper diagnosis and treatment plan. In this blog post, we will discuss the cost of the SBMA test in India, as well as the symptoms and diagnosis of the disease.

SBMA Test Cost in India

The cost of the SBMA test in India can vary depending on the location and the laboratory you choose. On average, the cost of the test can range from INR 10,000 to INR 15,000. It is important to note that this test is not covered by most insurance plans, so you may need to pay for it out of pocket.

Symptoms of SBMA

The symptoms of SBMA can vary from person to person, but they usually involve muscle weakness and wasting. The following are some of the most common symptoms of SBMA:

• Difficulty swallowing
• Speech difficulties
• Weakness in the limbs
• Muscle cramps
• Twitching of the muscles
• Breathing difficulties

These symptoms usually appear in adulthood, typically between the ages of 30 and 50. They gradually worsen over time and can lead to significant disability.

Diagnosis of SBMA

Diagnosing SBMA can be challenging because the symptoms can be similar to those of other neuromuscular disorders. However, there are several tests that can be done to diagnose SBMA, including:

• Blood tests to check for the genetic mutation
• Electromyography (EMG) to evaluate muscle and nerve function
• Muscle biopsy to look for muscle damage and atrophy

If you are experiencing symptoms of SBMA, it is important to see a doctor who specializes in neuromuscular disorders. They can perform the necessary tests to make an accurate diagnosis and develop a treatment plan.

Conclusion

SBMA is a rare genetic disorder that can have a significant impact on a person's quality of life. If you or a loved one is experiencing symptoms of SBMA, it is important to seek medical attention and get a proper diagnosis. The SBMA test can be costly, but it is necessary for an accurate diagnosis. By understanding the symptoms and diagnosis of SBMA, you can take steps to manage the disease and improve your overall health and well-being.

At DNA Labs India, we offer a comprehensive range of genetic testing services, including the SBMA test. Our experienced team of professionals is dedicated to providing accurate and timely results to help you make informed decisions about your health. Contact us today to learn more about our services and how we can help you.

Spinal-bulbar muscular atrophy (SBMA) is a progressive neurodegenerative disorder resulting in muscle cramps and progressive weakness due to degeneration of motor neurons in the brainstem and spinal cord. Age of onset and severity of manifestations in affected males vary from adolescence to old age, but most commonly develop in mid-adult life. The syndrome has neuromuscular and endocrine manifestations. Genetically it is caused by a trinucleotide CAG repeat expansion in exon 1 of the gene encoding the androgen receptor AR.