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How is congenital myotonic dystrophy diagnosed?

Because congenital myotonic dystrophy occurs so early in childhood, the first step in diagnosis is often a physical exam and a review of symptoms. Then a doctor may perform one of several tests depending on the age and condition of the child. Electromyography, which involves inserting a very thin electrode into the muscle, can test electrical activity in muscles. In some cases, doctors may take a muscle biopsy, which involves removing a small sample of muscle tissue to be analyzed under a microscope for certain indicators of congenital myotonic dystrophy. To confirm diagnosis, a doctor may take a blood sample to use for DNA testing. Early diagnosis is crucial for a child's development, so it's important to see a doctor if you notice any symptoms that may be caused by congenital myotonic dystrophy.

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