Quote:
Originally Posted by Stellatum
Yes, this is Abby questioning her diagnosis yet again. How do people with seronegative MG ever banish the specter of adult-onset congenital myasthenic syndromes?
I am the second of eight children. I know some forms of CMS are recessive. None of my siblings have symptoms...or do they? I have one sister who has been dragging herself around as long as I've known her. She's 39.
Besides testing negative for antibodies, I have little or no ocular symptoms. I also don't respond to Mestinon. I am thinking Dok-7. But, my first symptoms hit two years ago, when I was 43, which is unheard of (I read that symptoms can appear as late as age 30, but that even that is rare).
On the other hand, my overwhelming memory of childhood is being tired. I remember walking home from school every day, just dragging my feet. I looked up the distance: it was only half a mile. I spent long hours lying in bed reading.
I'm poking around on the internet, of course. I'm also taking a good look at my siblings. If one drooping eyelid in the family appears, that's going to change everything.
Abby
currently on Imuran, which my doctor is sure is going to send me into remission soon.
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The honest answer is that there is no way to know. Genetic testing for CMS is still in its early days. Probably only a small part of the possible mutations are currently known and can be diagnosed.
It is also possible to have both. (genetic and autoimmune).
In fact it is probably not that rare to have antibodies directed against an abnormal protein.
I myself missed a diagnosis of a rare congenital disease when I attributed it to the antibodies I found in my patients blood. When I was on sick leave, her daughter came to consult one of my colleagues with similar symptoms. This made him brilliantly search (and find) a genetic component.
statistically it is much more likely to have sero-negative MG than adult onset CMS. Also, autoimmune MG is a potentially treatable disease in which remission is possible, whereas CMS can only be treated with symptomatic and supportive care.
Clearly, having antibodies makes those decisions much easier for both the physician and the patient.