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Thursday, April 24, 2014
Should I get tested for Myasthenia Gravis?
My 22 year old half-sister was correctly diagnosed 2 years ago. I just found out that my older half-sister (now 38) was diagnosed with Myasthenia Gravis 1 day ago.Each of my diagnosed sisters resulted from different marriages, so I don`t know how much this affects my potential position. I`ve read around the internet that it is not hereditary, while I have not exhibited any symptoms I`m worried that I may have it. Should I get tested? How much do the tests cost out of pocket?
While acquired autoimmune myasthenia is usually not considered hereditary, there are people who have genetic predispositions toward autoimmune disease,like myasthenia. There are also congenital forms of myasthenia that are hereditary.
I do not recommend testing for any disease without symptoms, except in the case of clearly documented cases of the disease where it might make a decision about whether you want to have a child. Myasthenia is not one of those disease, whereas certain muscular dystrophies and degenerative diseases (Huntington's for example) are. If you are concerned about whether you have the disease or not, familiarize yourself with disease symptoms. If you have the symptoms, then consider going to see a neurologist for discussion. The test can cost anywhere from $200 to $500 dollars, so it is not like checking your sodium.
Myasthenia gravis is a disease of bad communication between the nerves and the muscle, usually because our immune system is attacking that neuromuscular junction. It usually presents as fatiguing weakness of proximal muscles (shoulders, thighs, hips), diplopia (double vision), ptosis (droopy eyelids), and can even present with dysphagia (swallowing problems) and dyspnea (breathing weakness). Fatiguing weakness is a big issue, and key, especially with double vision (not blurry or burning), meaning that it fluctuates during the day (better after rest and worse after exertion).
Robert W Neel, IV, MD
Assistant Professor of Neurology
College of Medicine
University of Cincinnati