possible genetic clue?
 

I'm seronegative, and since I don't respond to Mestinon, and my response to IVIg and immunosuppressants is doubtful, I go through bouts of questioning my diagnosis.

My mother's sister just had what seemed to be a stroke, but they can't find any evidence of that through MRI's or CT-scans. She said she had sudden loss of balance and visual problems. That's all I know. She said she's recovering, but using a cane to walk. I have written to her to tell her to mention my situation to her neurologist and ophthalmologist.

I am 46 (I've had symptoms for 3 years) and my aunt is 65. If there was a congenital myasthenic syndrome in our family, you'd think it would have come out before now. My mother is 69 and doesn't any neuromuscular symptoms. Any ideas?

Abby

My Mom and her sisters didn't show symptoms until their 70's. Mine showed up at 69 but my sisters showed up in her 50's.
Mike

Mike, I appreciate your sharing your story here. If I wasn't familiar with it, I probably wouldn't have even written to my aunt. Because I know your story, I keep the possibility of CMS in mind. Also, I have seen how hard it is for doctors to absorb the facts of your family, when they go against "what is written." That's a lesson in itself. So thanks, and of course I will share any developments with this forum.

Abby

Abby,

the currently available diagnostic tools neurologists have can't really differentiate between refractory autoimmune MG and CMS.

This is just something you have to accept and live with.

There are currently very few known genetic abnormalities known to cause MG, which explain only a small part of CMS cases. To me this is not very surprising given the fact that they look for those abnormalities only in proteins of the NMJ.

To complicate matters it is not rare to have an autoantibody directed at an abnormal protein. So, you may have both.

Abby,

CT's and MRI's are not definitive, especially if done in the first few days after the insult. Also, if done without contrast (dye) the infarct can be difficult to see. Given some time, the infarct will usually show itself as the brain tissue atrophies. I can't tell you how many patients I saw who'd gone into ER with the initial symptoms and were sent home because of a clear CT, only to have a massive stroke shortly thereafter. Not trying to scare you, but if the medical pro's said possible stroke, please know that the chances of a second event are increased in the next weeks and months and it probably would be good for her to be followed up (which it sounds like is happening.)

Hope your aunt continues to recover!

Thanks. Actually, they told her right away that the MRI showed a vertebral artery dissection, but a couple of weeks later (?) they said it was a false positive caused by a reaction to the dye. Now the MRI is not showing anything. But they're still sending her to doctors and keeping her on the blood thinner. She's following up with a cardiologist, neurologist, and ophthalmologist. I appreciate your concern.

Abby

Abby, I hope your Aunt will be okay!

There are CMS's that show up later in life. And since MG is autoimmune, it can show up anytime it wants to. ;)

Does your Aunt stay hydrated enough? A lot of older people do not. If they have a pre-existing circulatory issue, being dehydrated will just make that worse.

Of course, there are other things that can cause balance problems like vitamin deficiencies, tumors, inner ear problems and loads of other things.

I hope they'll figure out what's going on.

Annie