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Re: glycogen

Leroy,

Have you ever been tested for a glycogen storage disease? I just had a DNA panel done and should be getting the results from my doctor today. It covers many metabolic disorders including four types of glycogen storage disease. This is an amazing company...the test is only $99 if you have insurance. If you are on government insurance like Medicare or Medicaid it's $349, but you can request financial assistance on the registration page.

Counsyl Genetics Testing

I think anyone who has myotonia that seems more severe as far as weakness or pain and cramping should get this test. You have to email the company and ask them for the name of a doctor in your area who is registered with them. This will usually be a reproductive specialist who is helping couples going through fertility treatments because they want to be sure the inherited metabolic disorders and other disabling genetic conditions are tested in advance. Also genetic counselors at hospitals (usually children's hospitals) can order the test if they are set up with the company. They just received my sample a week ago and the results are already in.

With myotonia congenita there tends to be a lower level of an amino acid called carnitine. If you also have a metabolic disorder mutation, even one mutation instead of two, it could really affect your muscles. I take 500 mg of Acetyl-L-Carnitine every day and it definitely helps the myotonia for me.

Jan

Type of Myotonia: Thomsen's

Country: USA