Short Description

Myotonic dystrophy is an autosomal dominant disorder characterized mainly by muscular dystrophy, cataracts, hypogonadism, frontal balding, and ECG changes. Myotonic dystrophy Type 1 (DM1), has a severe congenital form and a milder childhood-onset form as well as an adult-onset form. The genetic defect in DM1 results from an amplified trinucleotide repeat in the 3-prime untranslated region of DMPK gene. Disease severity varies with the number of repeats: normal individuals have 5 to 37 repeats, mildly affected persons have 50 to 150 repeats, patients with classic DM have 100 to 1000 repeats, and those with congenital onset can have more than 2000 repeats.

PreTest Information

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Detail Description

MYOTONIC DYSTROPHY TYPE 1 Test Cost INR:8500 Symptoms Diagnosis

Myotonic Dystrophy Type 1 (DM1) is a genetic disorder that affects muscle function and can cause other health problems as well. It is caused by an expansion of a specific section of DNA, and is inherited in an autosomal dominant pattern. This means that if one parent has the mutated gene, there is a 50% chance that their child will inherit it as well.

Symptoms of Myotonic Dystrophy Type 1

The symptoms of DM1 can vary widely between individuals, but some of the most common ones include:

• Muscle weakness and wasting
• Stiffness and difficulty relaxing muscles (myotonia)
• Cataracts
• Heart problems
• Respiratory problems
• Difficulty swallowing
• Speech difficulties

Diagnosis of Myotonic Dystrophy Type 1

Diagnosis of DM1 typically involves a combination of physical examination, family history, and genetic testing. A blood sample is taken and analyzed to check for the presence of the mutated gene. In some cases, additional testing such as electromyography (EMG) or muscle biopsy may be done to confirm the diagnosis or rule out other conditions.

DM1 Test Cost in India

The cost of DM1 testing in India can vary depending on the specific laboratory or clinic where the testing is done. However, on average, the cost of DM1 genetic testing in India is around INR 8500.

Conclusion

Myotonic Dystrophy Type 1 is a genetic disorder that can cause a range of symptoms and health problems. If you or a family member are experiencing symptoms that may be related to DM1, it is important to speak with a healthcare provider and consider genetic testing. With a proper diagnosis, individuals with DM1 can receive appropriate treatment and management to help minimize the impact of the condition on their lives.

At DNA Labs India, we offer a range of genetic testing services including DM1 testing. Our team of experts are dedicated to providing accurate and reliable results to our clients. Contact us today to learn more about our services and how we can help you.