Do you have CMS?
 

Looking for others who have Congenital Myasthenia Syndrome (CMS). I want to reach out to as many people as I can find :) I've had symptoms my whole life, but was not properly diagnosed until I was about 25 years old (I just turned 40!). It was a long, difficult journey. I am so grateful to be where I am today :)
Well, here i am! I'd love to hear from others.

**

Look forward to talking to you guys!
Good night :)

Yes my mother and 2 of her sisters had it. I have it along with my sister.
Mike

Hi Mike,
I am the only person in my family and extended family who have it. I've never met another person who has the disease (in person, of course online I've found others).

I met a few during my IVIG treatments. It was nice to compare notes.
Mike

Mike,
What form of CMS do you have? (Didnyoundo Genetic testing?) or do you have Myasthenia Gravis? I'm still learning about all the different forms... I thought IVIG was just for MG (because it's autoimmune) and not CMS (Bc it's genetic)? Educate me! 😊
I have Dok7 gene mutation and take albuterol for treatment 😊

I have generalized MG and CMS. I got a DX from a neuro-muscular, who was on the team that discovered the MG markers. I tried albuterol but it didn't work for me. I currently take mestinon as needed, prednisone and cellcept. I tried imuran but it really made me sick and I lost 40 pounds. I got IVIG for a couple years because I was so weak. Haven't had one in a couple years.
Mike

Hi, tmezzy. Welcome!

This is the best site for looking at CMSs. Dok-7 is further down the list.

Myasthenic Syndromes

I still don't know if I have both MG and CMS. I've had MG since birth. I'll never know, since a certain clinic won't do the testing.

The CMSs are all different animals, even if they share some similar characteristics. There are those where there isn't enough acetylcholine and some where there is too much. Some of them are pretty bad, where someone has no acetylcholine and treatments don't really help.

How are you feeling in general? That's the important thing. You could always consult with Mayo in Rochester, MN, in case they might be able to help. One of their doctors is the one who discovered CMSs way back when. If only a few of their doctors could discover kindness. :cool:

Dr. Harper is a pretty decent MG expert and has written about the CMSs. I believe his email is listed on Mayo's website.

MG is weird enough. It must feel strange to have such a rare disease. Does anyone else in your family have similar symptoms? Sometimes a family member can have a more mild form and not even recognize that anything is wrong! That's more common with recessive CMSs.

I've wondered if some of these are amino acid protein synthesizing mutations. Tyrosine is indicated in Dok-7.

I hope you're doing well on the Albuterol. If it causes any shakiness, you can always have a bit of juice with it to counteract that.

I'm sorry it took so long for you to be diagnosed. I wish more doctors would consider these odd diseases when patients present with subtle symptoms!

Annie

Hi everyone, this is my first post. Have been treated for Seroneg MG for 2 years due to 2 positive Sfemg done a year apart at 2 different medical centers. No improvement in symptoms despite everything they threw at me, even Plex. Was told last week that I have a "variant" on my dok7 gene. Problem is they have not identified this variant before so not sure what it means.
Went to Mayo at end of April and Annie I laughed when you wrote that they need to discover kindness. So eloquently phrased.
Have been trying to read everything I can so appreciate info. Have a great 4th!
Sandpiper

Hey, Sandpiper! Dok7 seems to be pretty common these days! I wonder if it went undiagnosed in some people for a long time.

Yeah, many neurologists don't realize that objectivity and kindness are not mutually exclusive qualities! Glad you found that funny (but not).

What are they going to do for you now that they realized it's genetic, not autoimmune? I hope something! That WUSTL site is very good for MG/CMS information.

Annie