Myotonia Congenita

Hello @kimcvi, Welcome to Connect. I did a search of Connect and was not able to find any members who have posted about Myotonia Congenita rare disorder. That doesn't mean there aren't any members with the condition as the one thing I've learned since joining Connect is that we are not alone no matter what condition we have. There is always someone out there with similar conditions and hopefully they will see this post and connect with you.

I did find some information that may be helpful. Excerpt from article below... "Most people with myotonia congenita don't require special treatments. Stiff muscles usually resolve with exercise, or light movement, especially after resting. For individuals whose symptoms are more limiting, doctors have had some success with medications such as quinine, or anticonvulsant drugs such as phenytoin.Aug 5, 2019"

Myotonia Congenita Information Page: https://www.ninds.nih.gov/Disorders/All-Disorders/Myotonia-Congenita-Information-Page

American Association of Neuromuscular & Electrodiagnostic Medicine - Myotonia Congenita:
-- https://www.aanem.org/Patients/Muscle-and-Nerve-Disorders/Myotonia-Congenita

Myotonia Congenita (Thomsen Disease and Becker Type): https://www.mda.org/disease/myotonia-congenita

@kimcvi, Has your doctor or specialist provided any suggestions that help relieve the muscle pain?

Thank you for your reply, this is a rare disease and I am working with the Mayo Clinic to try to find out which of the MC that I have as exercise and over work makes my muscles worse. I have no doctors where I live that can help or understand what I am going through, My neurologist at the Mayo is very helpful (as much as he can) and I see them once a year. I just have no one that understands my condition.

@kimcvi, I'm really happy to hear you are working with the Mayo Clinic. You mentioned only seeing the neurologist once a year. Are you able to send them messages and ask questions through your Mayo Clinic patient portal? I use mine all the time when I have non urgent questions and they usually get back to me within a few days at the most.

Yes, I non urgent message him all the time. It was he request as he knows I have no dr.’s here that can help me. He is in the process of getting another genetic test done to help with treatment as there is so many diseases connected to MC.

@kimcvi I had never heard of this before you started this discussion. I am curious, what kind of pain do you experience with MC? It sounds like the muscles become stiff because they don't naturally relax. Do you have pain similar to what most people have with a charley horse, or maybe due to MC you have never experienced a charley horse? A website I was reading said some people experience mild symptoms. Is your particular case a more severe one? Hope you find answers here. Best Hank

Hello, yes it’s like a Charlie horse. MC is not suppose cause much pain and it’s suppose to be relieved with walking or exercising but the more I do the harder my muscles work and I have pain. My foot is all messed up due to the MC and if I do any substantial walking I wear AFO’s. I was hoping to connect with someone who is going through this but it is rare and none of my Dr.’s here at home can help me, I do a lot of non urgent messaging to my Dr. at the Mayo (he is Awesome along with his nurse)

Hmmmm, yeah that does not sound like much fun. I can relate to charlie horses, Like many people I have experienced a number of them in a lifetime. Your specific illness may be rare. But you experience pain, right, so from that standpoint you do have a lot in common with a lot of people. Perhaps it's not exactly the same cause of pain but surely many can relate to the fact that you re living through a nightmare. If you want to utilize Mayo Connect I'd suggest to just look for groups and discussions among the many that are here that most closely relate to the issues that you are dealing with, even though they aren't precisely about MC, such as the groups "Chronic Pain", "Bones Joints, and Muscles", etc.. One thing I have been learning since I started posting in January is that there are a lot of very intelligent and compassionate people who are willing to lend an ear to what you have to say and will give you the best feedback they have to give. Also I'd like to make one suggestion: perhaps do a short write up of your disease as it relates to you and put it on your profile page. I like to read those when people include them and it would help you from having to explain your disease to a lot of people, you can just refer them to that. Like others, you are a Pain Warrior @kimcvi and that makes you another member of the club here. My very best to you and keep up the good fight! Best, Hank

Thank you and I will update my Profile. Thank you for your suggestions and I look forward to any kind of support that I can give someone or get from someone.
As for being a “Pain Warrior” I’m not sure about that - It’s just a Will to live and I have things to do that I just won’t give up. My family is very supportive and understanding but as they are for my I will always be there for them 🙂
Best to you - Kim

Kim, you are VERY lucky you have a supportive family. That is GOLD! Look forward to hearing from you more. Best to you, Hank

@kimcvi Hi Kim and welcome to Connect! I'm Rachel and although I do not share your diagnosis, I live in pain, have a life that I'd like to live to the best quality, love my family and my family loves me. I'm 50 and began fighting health issues at 43. I can not imagine what you feel, experiencing such a rare disease. Im very happy you have found help through Mayo and can have ongoing communication with your Dr and nurse there. Might they be able to point you to a support group for your specific diagnosis? I'm sure as you keep poking around Connect and get more about your story out, you will find others. As @jesfactsmon mentioned, the more you share, the more apt you are to connect. Be well and know you have found support here.
Rachel