In my family my auntie had a muscle weakness that was probably MG. It was never diagnosed but Neuros have said since that she looks as though she matches MG. I have just found out her first cousin had an identical muscle disease and also her niece( my second cousin).

The Dr my second cousin is seeing is calling it a rare form of muscular dystrophy that does not have a genetic test yet.

Now I am really spooked. Is it a rare MD or MG for everyone and all the others were misdiagnosed ?

My auntie and her cousin has passed away but could this be possible - in one family ? Do all Neuros know about CMS ? My symptoms started about when I was 10 and I think I had some remissions through my life but now have symptoms again.

And my second cousin is in a wheelchair now. Could that still be MG ?

Xanadu, MG is often mistaken for CMS and can be vice versa. Without the proper tests, you can't know for sure. And there are some congenital myasthenic syndromes where people have too much acetylcholine and Mestinon will make them worse.

Since you have so much going on in your family, it's worth asking for a referral. It stinks that there are only two places who can do the testing.

No, not all neuros know about CMS or even LEMS (lambert-eaton myasthenic syndrome).

CMS runs in families. Some of them are autosomal dominant, meaning you only need one gene (from one parent) to have it. Others are autosomal recessive, meaning you need one gene from each parent to have it.

So, yeah, if there is a dominant CMS running in your family, then it needs to be thoroughly investigated so none of you have to suffer needlessly.

This stuff does get missed.

If you need to know specific doctor names who deal with this, let me know.

Annie

Xanadu, I found this info for you because I noticed in another post that you are from Australia. If you ever want to find a doctor for a specific disease, you enter the disease in PubMed along with the city or country.

http://cmsluke.blogspot.com/

http://mdaustralia.org.au/about-md/fact-sheets/

http://mdaustralia.org.au/about-md/s...in-your-state/

http://mdaustralia.org.au/contact-us/

http://cat.inist.fr/?aModele=afficheN&cpsidt=1277590

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1288244/

http://www.ncbi.nlm.nih.gov/pubmed/1...m&ordinalpos=3

And this one is from South Wales, Prince of Wales Hospital.
Maybe call this hospital and ask if they do the specialized testing.

http://www.ncbi.nlm.nih.gov/pubmed/1...m&ordinalpos=2

Hey Xanadu,

I can kinda relate to your predicament...My mom told me recently that she had an aunt who always had a slack jaw...She told me that after this aunt would talk for a bit, her jaw would hang open and she'd have to hold it shut with her hand...My mom also told me that her sister's voice goes completely nasal when she gets upset...My mom has 8-brothers and sisters and they're all sorta scattered about...They don't talk to eachother much, so it's hard to get info...I happen to have autoimmune MG, but this new info. from my mom has got me totally confused...I don't know what to make of it! My mom also has a droopy eyelid that she's had since I was born, and a lazy eye that she's had since she was little...She also has difficulty lifting her feet up when she walks, and sorta walks like a soldier...All these things have existed since I've been little, and my mom just sorta learned to live with it and never went to the doctor about it (other than the lazy eye which she had surgery for, but has returned). Argh! I seriously don't know what to think about any of this!

From what you've written, it definately sounds like CMS...I hope that you get the info. from Annie re. the doctors 'cause you don't deserve to suffer like this!

EDIT: I just wanted to add that there's an excellent book that my sister had ordered online for me called, "You, me and MG." It talks a lot about CMS and includes patient stories, so it's an excellent resource...Check it out!

Nicky

Thanks Annie and Nicky !!! I am so inspired ! I see my Neuro tomorrow actually for my check up... and now I have a path and can make some sense from this - its is all starting to come together ...

I don't care if the Neuro calls me delusional. I know I am on the path to an answer !

I will try to read the links and get the names. My eyes are so tired right now so hope this message makes sense...

Thankyou!!!

Well I guess it was good that I read the replies before saying what I had to say about this.. I was told by "THE" MG specialist that MG was not genetic. That it did not "run" in families. I was actullay very surprised by the replies here but than again I was DXed 19 years ago and I am sure much has been learned since then. I will be checking out the link in Annies reply. Good post as I myself learned something from it.

Well, there is more than one issue here. MG is not typically genetic though there have been families where it is dominant. So even though it's "atypical" it still does happen.

CMS does run in families because it has a genetic cause.

Since the genes that cause diseases are often passed down from one generation to the next, even if someone doesn't ever get the disease, they could have the gene.

It's all very complicated and no one should say a definitive statement like your neuro said, Joanmarie, because nothing in science is black and white.