Short Description

Myotonic dystrophy is an autosomal dominant disorder characterized mainly by muscular dystrophy cataracts, hypogonadism, frontal balding, and ECG changes. Myotonic dystrophy Type 2 (DM2), is rare and generally manifests with milder signs and symptoms than DM1. DM2 is caused by heterozygous expansion of a CCTG repeat in intron 1 of the ZNF9 gene (3q21.3). Individuals with DM2 have muscle pain and stiffness, progressive muscle weakness, myotonia, male hypogonadism, cardiac arrhythmias, diabetes, and early cataracts. Other features may include cognitive dysfunction, hypersomnia, tremor and hearing loss.

PreTest Information

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Detail Description

MYOTONIC DYSTROPHY TYPE 2 Test Cost and Symptoms Diagnosis in India

Myotonic Dystrophy Type 2 (DM2), also known as proximal myotonic myopathy, is a rare genetic disorder that affects the muscles and causes muscle weakness and stiffness. It is caused by a mutation in the CNBP gene, which leads to the production of an abnormal protein that accumulates in the muscle cells and causes damage. DM2 is inherited in an autosomal dominant pattern, which means that an affected person has a 50% chance of passing the condition on to their children.

Symptoms of Myotonic Dystrophy Type 2

The symptoms of DM2 usually develop in adulthood and can vary widely in severity. The most common symptoms include:

• Muscle weakness and stiffness
• Difficulty with movement
• Cramping
• Difficulty with speech and swallowing
• Vision problems
• Cognitive impairment
• Heart problems

DM2 is a progressive condition, which means that the symptoms can worsen over time. However, the rate of progression can vary widely between individuals.

Diagnosis of Myotonic Dystrophy Type 2

DM2 is diagnosed through a combination of clinical examination, genetic testing, and muscle biopsy. The clinical examination will involve assessing the patient's muscle strength, reflexes, and coordination. Genetic testing will involve analyzing a blood sample to identify the CNBP gene mutation that causes DM2. A muscle biopsy may also be performed to confirm the diagnosis and assess the extent of muscle damage.

MYOTONIC DYSTROPHY TYPE 2 Test Cost in India

The cost of the DM2 test in India can vary depending on the location and the laboratory that performs the test. On average, the cost of the test ranges from INR 7000 to INR 9000. It is advisable to consult with a genetic counselor or a healthcare provider to discuss the test and its cost.

Conclusion

Myotonic Dystrophy Type 2 is a rare genetic disorder that affects the muscles and causes muscle weakness and stiffness. The condition is diagnosed through a combination of clinical examination, genetic testing, and muscle biopsy. The cost of the DM2 test in India ranges from INR 7000 to INR 9000. If you are experiencing any of the symptoms associated with DM2, it is advisable to consult with a healthcare provider or a genetic counselor to discuss the test and its cost.

At DNA Labs India, we offer DM2 testing services at affordable prices. Our team of experienced genetic counselors and healthcare professionals can provide you with the guidance and support you need throughout the testing process. Contact us today to learn more.