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.

PreTest Information

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

Detail Description

MYOTONIC DYSTROPHY COMPREHENSIVE PROFILE Test: Symptoms, Diagnosis and Cost

Myotonic dystrophy is a genetic disorder that affects the muscles and other body systems. It is caused by a mutation in the DMPK gene, which leads to the production of abnormal proteins that interfere with muscle function. This disorder is characterized by muscle weakness, myotonia (delayed relaxation of muscles), and other symptoms that vary in severity.

The Myotonic Dystrophy Comprehensive Profile Test is a diagnostic tool used to identify the presence of this disorder. It involves a series of tests that evaluate muscle strength, muscle tone, and other factors that may indicate myotonic dystrophy. This test can help healthcare professionals make an accurate diagnosis and develop an effective treatment plan.

Symptoms of Myotonic Dystrophy

The symptoms of myotonic dystrophy can vary widely depending on the severity of the disorder. Some of the most common symptoms include:

• Muscle weakness and wasting
• Myotonia (delayed relaxation of muscles)
• Cataracts
• Heart problems
• Breathing difficulties
• Difficulty swallowing
• Speech problems
• Intellectual disability
• Behavioral problems

These symptoms can appear at any age, but they typically develop in adulthood. The severity of symptoms tends to worsen over time.

Diagnosis of Myotonic Dystrophy

Diagnosing myotonic dystrophy can be challenging, as the symptoms can be similar to those of other muscle and neurological disorders. The Myotonic Dystrophy Comprehensive Profile Test is one tool that healthcare professionals can use to aid in the diagnosis of this disorder.

The test involves a physical examination, a review of the patient's medical history, and a series of tests to evaluate muscle strength, muscle tone, and other factors that may indicate myotonic dystrophy. The test may also include genetic testing to identify the presence of the DMPK gene mutation that causes this disorder.

Cost of Myotonic Dystrophy Comprehensive Profile Test

The cost of the Myotonic Dystrophy Comprehensive Profile Test in India is INR 11,000. This cost may vary depending on the healthcare facility where the test is performed.

Conclusion

The Myotonic Dystrophy Comprehensive Profile Test is an important tool for healthcare professionals in the diagnosis of myotonic dystrophy. This disorder can be challenging to diagnose, and this test can help healthcare professionals make an accurate diagnosis and develop an effective treatment plan. If you or a loved one is experiencing symptoms of myotonic dystrophy, speak with your healthcare provider about whether this test may be appropriate for you.

For more information on genetic testing and diagnostic services, contact DNA Labs India. Our team of healthcare professionals is dedicated to providing accurate and timely diagnoses to help improve patient outcomes.

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.