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Is electromyography (EMG) enough to diagnose Myotonia Congenita (Thomsen type)?

Q: My five years old son has been diagnosed with Myotonia Congenita (Thomsen type) after EMG and nerve conduction studies by the neurologist. He gets stiff for a few seconds after prolonged sitting. How can we be sure that his Myotonia Cogenita is Thomsen type? Are there any blood tests or DNA tests to confirm this? What precautions are needed?

A:Myotonia Congenita (Thomsen type) can be diagnosed clinically and with proper EMG in up to 90%. There are no genetic tests for this available in India. Cold, hunger, fatigue, stress can aggravate myotonia. There are drugs like Mexilitine, dilantin, carbamazepine etc. to reduce the myotonia.

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