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Friday, August 22, 2014
Treatment for congenital myasthenia
I am suffering from Congenital Myaesthenia since birth.now I am 21 years old and still under drugs like Neostigmine twice daily and Mestinon 4 times a day.Still there are difficulties in performing certain day to day activities like walking, rising from a sitting position and all.Recently i have heard that Plasmapheresis can give a permanent cure for myaesthenic patients.If so what are its merits and demerits?Any other treatments that may be done?Are there any involved risk factors etc.I need to undergo a surgery for Prognathism,totally deranged occlusion etc under General Anaesthesia.Is it possible for me to undergo a surgery ?
I consider Congenital Myasthenic Syndrome to be a very rare and, often, a difficult clinical condition to diagnose accurately. It's important to be step-by-step and very careful in making the diagnosis. Even then, it turns out that there are a fairly large number of causes of this extremely rare condition. Getting the most accurate diagnosis usually requires that you are evaluated by very specialized centers. For example, the Mayo Clinic has a particularly strong team that works to sort out this diagnosis. My major point here is that it's critical to start all clinical decisions with an accurate diagnosis. For example, plasmapheresis does not work for congenital myasthenic syndrome. This of course requires that the diagnosis be correct and that you are not suffering from some other condition. The use of other treatments is quite similar, it requires that you have an accurate diagnosis. I would not advise you about the safety or risk of general anesthesia without first knowing with great confidence what your diagnosis is. There are some neuromuscular conditions that do carry risk. Being personally evaluated by an experienced neuromuscular specialist is the best way to sort out this question. I hope this helps. Best of luck.
John G Quinlan, MD
Professor of Neurology
College of Medicine
University of Cincinnati