Although I am not new to the symptoms and experiences, I am new to knowing the details and the name of the disorder. In elementary school I remember going to PE and having to participate in "Line Soccer" (a game that involes sitting indian style until your number is called and having to run to the middle to attempt to score a goal). I would get my self so worked up and afraid that I would pass out and need to go to the nurses office. I have only seen a neurologist once and even showed her examples of the symptoms such as attempting to snap my fingers fast or turn my head fast and look over my shoulder while having her feel the muscles in my neck flex and slowly loosen. Since she had no idea how to help me I have lost hope and have yet to attempt to get a diagnosis. As I read some of the stories, I see that there really isn't much anyone CAN do so my thought is "Why waste the money getting a diagnosis when I am pretty sure I know what I am feeling is the exact same thing all of you are going through". I have tested some ideas such as focusing on loosening the muscles and telling myself I am in control of how they move and telling myself to relax. It helps a little bit, but stairs have always gotten the best of me. It made me tear up a little bit reading some of the stories. Lois really got me when she talked about the doctor asking her the specific question “Tell me what happens to you when you shake someone’s hand?”, to know that there are people who know exactly what you are going through and can give you a definite answer is just amazing to me.

Country: USA

Welcome, Courtney! I'm glad you found your "cousins" with MC.

The main benefit of getting a confirmed diagnosis with DNA testing is having doctors and anesthesiologists take the condition seriously if you need surgery. Myotonia congenita won't kill us, but an anesthesia reaction will. My mother, who had MC but never experienced any symptoms, had cardiac arrest during a routine biopsy. It's crucial to have it in your medical records.

Some MDA clinics still have funding to do the testing, others don't. If you ask your doctor to refer you to a geneticist they can often facilitate the testing through Athena or Fullerton Genetics. Usually they will want to see an EMG that is positive for myotonic discharges, but that is not always conclusive if it is negative.

Jan

Type of Myotonia: Thomsen's

Country: USA

Thank you Jan. That is really scary to know that things like that can happen and not know about it. I have never experienced any anesthesia. I have a routine doctor appt on Jan. 18th and hope that he can take this seriously due to the fact that I do have high anxiety and I am currently being treated for it hince the reason for my visit in the first place. Wish me luck!

Country: USA

Courtney:

There are a few reasons you might want to consider getting a formal diagnosis.

1. There are different disorders that cause myotonia and some of them have more treatment options than others. Knowing what type will help you customize treatment.

2. There are disorders that can have symptoms that mimic myotonia that are often treatable and should not be ignored. For example, thyroid problems/neuromyotonia.

3. You might have to answer for your symptoms someday, for example, on the job, and saying "Sometimes my muscles get stiff" is not covered by the ADA.

4. As Jan said, people with myotonia causing disorders can often have certain life threatening reactions to certain medications.

Your doctor can easily confirm the presence of true myotonia or neuromyotonia by doing an EMG. All you have to do is request to see a neurologist, tell them you think you have myotonia, and request they do an EMG. It should pick up the myotonia most of the time, however there might be some occasions where it does not. Make sure they check multiple muscles and if they don't find anything, have them cool them and check again.

Of course the downside is it might make your health insurance more expensive if you lose coverage for whatever reason and have to apply again in the future.

Type of Myotonia: Becker

Country: USA

Jenna, several years ago I worked with the CDC to change the coding for myotonia congenita so that it was no longer classified with the dystrophies. Before that, insurance rates were raised for someone with MC, but now they are not because it is not considered a progressive or life-threatening condition. (In life insurance actuarials it was never considered a negative.) If an insurance company does try to raise the rates because of the diagnosis, it can be appealed.

Jan

Type of Myotonia: Thomsen's

Country: USA

Great information from the both of you. Thank you so much.

Courtney, I feel so bad for you. So, many of us feel your pain personally. Reading what you wrote made me cry. I too, experienced what you did so many times. xoxo Welcome here. I hope we can help ease some of your concerns. Jan and Jenna are so knowledgeable. As are many people here. Again, welcome to your new "Home". We are all family here. :)

Type of Myotonia: Becker's MC

Country: U.S.A.

Thank you Tammy I can't wait to get a true answer

Jan:

And I deeply thank you for that! I would still not be surprised if some insurance companies tried to charge increased premiums to people who have MC though, just because those companies can be so underhanded. At least mine is. They tried to raise premiums across the board by 30% in one go, and gave some false justification that didn't pan out when the state called them on it. When I originally applied for insurance though I hadn't been genetically typed, and so I think I just put "muscle cramps" or something like that, and wrote that I managed it with lifestyle.

Type of Myotonia: Becker

Country: USA

Awesome! I haven't had genetic testing to avoid having this official label because of insurance problems, but now I'll get it to ID my mutation so the kids can be tested to see if they are carriers.

Type of Myotonia: Thomsen's

Country: USA

I was the world's slowest kid at those Indian-style relays--all relays, actually-my muscle response rate is NEVER good, but from a dead start, it just wasn't happening! I'm clumsy, and probably my muscles are part of the reason. But with relays, I had to wait relaxed, not tense, and by the time I could get started, another kid at the same place had a 5-6 lead, at least. No one was ever mean to be about being on their team, but I SUCKED. :P

Type of Myotonia: Thomsen's

Country: USA