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Re: Forgot to mention

Hi Lisa:

If you are tested for the chloride channel myotonias (Thomsen and Becker MC), the sodium channel myotonias (Paramyotonia, potassium aggravated myotonia/acetazolamide responsive myotonia, periodic paralysis), and muscular dystrophy type I and type II, and everything comes back negative, then there are a few possibilities.

1. Sometimes, for one reason or another, they fail to detect an existing mutation or defect on a gene. I think this is more common with sodium channel myotonias.

2. You have a mutation on a gene relating to muscle function, which was not sequenced. This could be the gene that codes for potassium channels, or maybe even calcium channels within the muscles.

3. You have some other condition which causes a phenomena similar to myotonia. For example, thyroid problems, Isaac's Syndrome.

I wouldn't worry too much though. It's not often that they don't find the cause once they know what to look for.

Type of Myotonia: Becker

Country: USA