Congenital myasthenic syndrome
I'm a Brit in my mid-seventies living in Germany and have had CMG for the past 35 years. CMG means that I have a genetic defect, not an auto-immune disease. However, the symptoms are very similar to MG with muscle weakness particularly in my arms and legs that gets more pronounced as the day goes on. I take Mestinon and have increased my dose considerably over the past few years.
I feel very "alone" in that CMG is even rarer than MG. Is there anyone else out there with it?
Yes
Hello and welcome to our wonderful community of supportive MG warriors! We'd be thrilled to hear more about your specific experience with MG if you're willing to share. Your story could help and inspire others!
-Jodi, Team Member
Hello
It's never a good feeling to feel alone. I hope this community can change that for you. We are all here to support you and you might come across someone that shares a similar experience with CMG as you. I will definitely be doing my research on this form of MG so I can better understand. You are more than welcome to message me as well. Sending you all the best of luck. - Jazmin (team member) Is there a connection between CMG and MG with no antibodies detected?
Hi Kaitlyn. You can read all about me in the Neurology journal! I have a mutation (N88K/RAPSYN). The article says that "Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients". I'm "Patient 3" and it says about me:
"The clinical picture in one patient (homozygous N88K; Patient 3) clearly differed from the one described above. This patient did not show symptoms in childhood and adolescence and actively participated in sports. Double vision and moderate generalized weakness started in her twenties; weakness exacerbated in her thirties during two pregnancies. She was diagnosed with CMS at age 40. Since then, she has been responding well to pyridostigmine treatment at a moderate dosage (2 to 3 mg/kg/day). Her condition has not deteriorated further in recent years."
Since this was written in 2003 I have in fact deteriorated quite a bit as I've got older but only this year (aged 75) have I needed a stick for walking. Mestinon still works wonders, but at a much increased dosage.
The article can be found at https://n.neurology.org/content/60/11/1805?ijkey=b9d7112108d279f7bd583d0b4a79497f4293627c&keytype2=tf_ipsecsha
Hi
, I echo Kaitlyn - thanks for sharing with us and following up with this article. Thanks for feeling comfortable talking more about your experience. If others here have CMG, I am sure they will jump in. We appreciate you creating the space to discuss even rarer conditions than MG. The rare disease community in general knows how vital awareness and advocacy. We are here for you! Best, Lauren (Myasthenia-Gravis.com Team)
Hi Mary, thanks for sharing with us - I am so glad you have found our community. That must be extremely tough to deal with and I am sorry to hear you are feeling so alone. From what I know, CMG is in fact more rare than MG. Did you develop CMG as a child? According to this article on our site about rare myasthenic syndromes, it states that CMG usually presents itself in newborns or young children: https://myasthenia-gravis.com/syndromes Sending hugs your way! Best, Kaitlyn (Team Member)
