The cramp fasciculation syndrome some patients experience is caused by a potassium ion channelopathy. The symptoms which led to my diagnosis of CFS, however, are a direct result of the atypical myotonia congenita with which I've just been diagnosed. Treating the symptoms of my genetic disorder means treating the symptoms of CFS, as well as all those symptoms of mine that have, until now, defied categorization. For that reason, it's unlikely that I will continue to update this blog.
I'll keep the old material available. Feel free to link to or quote from this blog or the sister blog, Another Invisible Illness; I do ask, however, that you acknowledge the source and the author, Another Invisible.
Right now, I do not see myself keeping a blog about atypical myotonia congenita or sodium channel disorders. However, because there are so few patients with these disorders and research can be so hard to come by, I have created a forum for those who might be interested in supporting each other and sharing information. Although those who wish to participate in the more personal discussions are required to register, links to research and resources are available to the general public. I won't do a lot in the way of moderating the board; I plan to post links now and then and make sure postings and member names fall within the forum guidelines, but that's it.
I'd like to offer my sincere thanks to all of you who have followed the blog and wished me well. I hope that it has been, and will continue to be, helpful to others.
Best wishes to all of you,
Another Invisible
Tuesday, February 8, 2011
Diagnosis!
Yep, it's the sodium-channel form of myotonia congenita.
Dr. January was wonderful; he really took a lot of time to explain the genetic testing and how the laboratory databases work and such.
And he didn't misread my earlier report; it happened to be one of the few medical reports that somehow hadn't made it into my new file at the university hospital. He also asked if he could have a resident sit in, and he not only showed the new doctor what to look for in the physical testing, but how to listen to a patient's symptoms with an open mind. (The new doctor was listening carefully and respectfully; Dr. January was simply pointing out the importance of it and cautioning the doctor not to be dismissive when a physical cause is not immediately evident.)
Dr. January recommends trying a medication-only approach for now, as opposed to making drastic dietary changes. I told my husband that I'd been hoping I'd be ordered to stay away from Big Macs, because I might be able to do it under doctor's orders, but I certainly won't listen to myself.
Dr. January was wonderful; he really took a lot of time to explain the genetic testing and how the laboratory databases work and such.
And he didn't misread my earlier report; it happened to be one of the few medical reports that somehow hadn't made it into my new file at the university hospital. He also asked if he could have a resident sit in, and he not only showed the new doctor what to look for in the physical testing, but how to listen to a patient's symptoms with an open mind. (The new doctor was listening carefully and respectfully; Dr. January was simply pointing out the importance of it and cautioning the doctor not to be dismissive when a physical cause is not immediately evident.)
Dr. January recommends trying a medication-only approach for now, as opposed to making drastic dietary changes. I told my husband that I'd been hoping I'd be ordered to stay away from Big Macs, because I might be able to do it under doctor's orders, but I certainly won't listen to myself.
Tuesday, February 1, 2011
The Atypical Myotonia Congenita/Potassium-Aggravated Myotonia Connection
According to this 2003 GeneReviews article by Doctors Jurkat-Rott and Lehmann-Horn about hyperkalemic periodic paralysis (under "Genetically Related [Allelic] Disorders"), atypical myotonia congenita is the form of potassium-aggravated myotonia known as acetazolamide-responsive myotonia. Two other forms of potassium-aggravated myotonia are myotonia fluctuans and myotonia permanens.
The abstract for the paper cited in GeneReviews, "Sodium Channel Mutations in Acetazolamide-Responsive Myotonia Congenita, Paramyotonia Congenita, and Hyperkalemic Periodic Paralysis," by Ptacek, Tawil, et al., can be found here.
The abstract for the paper cited in GeneReviews, "Sodium Channel Mutations in Acetazolamide-Responsive Myotonia Congenita, Paramyotonia Congenita, and Hyperkalemic Periodic Paralysis," by Ptacek, Tawil, et al., can be found here.
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