Hi Jan, it's been a couple years since I was here last. My genetic testing was non conclusive at the time. Since then, my myotonia has gotten worse and much more painful to the point that any bit of activity causes pain that lasts for days.
Have you run into anyone with the same problem or do you know of research that stumbled upon this condition? I'm getting nowhere and am fighting this thursday with a medical judge to have my mutated genes identified. No one gives a crap about what we go through. They just don't care at all!Hope you are well!

Type of Myotonia: still unknown

Country: u.s.a.

David, which testing did you have done? Athena Diagnostics has a myotonic profile that would cover the sodium and chloride ion channel disorders as well as myotonic dystrophy. That's the most comprehensive test that I know of.

The other type of condition you might want to check is the metabolic myopathies. One in particular, Myoadenylate Deaminase Deficiency, can cause the symptoms you mention. I'll paste in a paragraph from a Medscape article about it. Acid Maltase Deficiency can even cause myotonic discharges on an EMG. This is the link to the article:

http://emedicine.medscape.com/article/1173338-overview#a1

Hope you can get further testing. It can be a long battle.

Jan


Myoadenylate Deaminase Deficiency

Most patients with myoadenylate deaminase (MAD) deficiency, a disorder of purine nucleotide metabolism, are asymptomatic. The most commonly reported complaints are muscle cramps, exercise intolerance, fatigue, stiffness, and pain after exercise. Whether this deficiency is clinically significant or is an epiphenomenon is not clear; approximately 3% of muscle biopsies studied have MAD deficiency. Many of these biopsies were performed on patients with specific neuromuscular disorders and symptoms not consistent with MAD deficiency.

Type of Myotonia: Thomsen's

Country: USA

Thanks Jan! I had some genetic testing in 2007 but, the test you just mentioned was not available. I am fighting my insurance company in a teleconference type court call and am waiting on a ruling about whether or not they will cover the costs of the new test. It is a long, long battle that I'm getting so tired of fighting. Thank you for the info you've provided. They are other avenues to pursue

Type of Myotonia: still unknown

Country: u.s.a.

David,
I don't know if this will help you in some way, but Athena Diagnostics Lab does the myotonic profile testing. The cost is $1900, but since Athena is probably out of network, you will pay $381, and your insurance pays the remaining 80%. They send you to a Quest lab if one is nearby, or they will send a nurse to you for the blood draw. It's fast, the long part is the waiting, first to set up the test, and then once Athena begins the testing. I have been waiting for a month to find out the results, but there is no where else in the US that does this specialized type of testing. Athena does the genetic DNA testing that you need. Good luck!

Thank you both again for the info. Please let us know how you make out o.k. Leeann?

Type of Myotonia: still unknown

Country: u.s.a.