Hello,

I want to thank everyone who put their time and effort for this forum and other resources. I've lived with this ever since my early teen years and I'm now 31 and I finally know what my condition is. I've just lived with it all my life and never knew what it was. It has gotten a lot worse over the years. I can remember in my teenage years it wasn't as bad as I still was able to participate in sports and such. Every now and then I would experience an episode. But over the years it has gotten worse. Climbing stairs in my house become more difficult over the years. Then I came across Jim video on YouTube by accident. I thought it was going to be some funny skit of a video so I watched it. Right then and there... it hit me... I said that's exactly what I have. I know I wasn't alone because I have a cousin who always complained about similar symptoms. Some of our family though that maybe we had poor circulation because we said it would disappear once we "warmed up." I sent the video link to my cousin and told her to watch it and see if it hit the ballpark of her symptoms. She said, We finally found what we have! Thanks to you guys, we now can explain to our physicians what we have. I got accused by my former physician in my teenage years of "faking" in attempts to get out of some activities. And my cousin says, that she know my aunt has it and a handful of other cousins that have it. So, am I correct by saying I(we) have Thomson's? I'm glad I came across this and it's such a relief to know that I'm just weird because I didn't know anyone who had it. I wasn't sure if my cousin had the same thing as me. Has anyone taken any medication or is there any medication that can suppress episodes. After reading up on this I see there isn't a cure for this.

Type of Myotonia: I think Thomson's

Country: USA

Hi Patrick
Welcome to the forum!
I am less than 48 after my diagnosis of Monday afternoon by a Neurologist (I should say the entire neurology dept as this is so rare (1:100000) that everyone wanted to assist in the diagnosis...weird)...
I too tried to get this condition diagnosed int the past, probably 2-3 times in my late teens, early 20S (I am 46). Doctors had the same reaction... I was triyng to get out of gym or faking or psychsomatic... It's a good thing that my current GP saw the neurological cause and sent me for testing.

It is a relief to know that our condition exists, that we are not alone and that it is medically recognized... I am not crazy or lazy!

Type of Myotonia: Probably Beckers

Country: Canada

Hi Patrick:

When I was a kid, before I had a diagnosis, I used to wonder if they would ever figure out what was wrong with me. I speculated, maybe after I died, they would find the problem during the autopsy (which I now know they would not have). I used to wonder if I was the only person in the world with this problem and imagined describing this "new" disorder to the medical community, and how silly it sounded.

I really thought I would live an die without solving this mystery but I was diagnosed when I was 17 with a "myotonic disorder" or "atypical myotonia" due to serendipitous event involving my cat.

I now think, however, that if that event never occurred, I would have eventually seen those fainting goat videos on youtube, and like you, recognized that I had the same problem.

The first step in a formal diagnosis would be to go to your GP, and tell them that you think you have a rare disorder called myotonia congenita, and you would like to see a neurologist to have an EMG done. If you have the EMG done, be aware that in muscles in which you are not currently experiencing symptoms, they might not pick anything up. Because of this, it's best to insist they test multiple muscles, and if that doesn't work, to cool your muscles and try again. In muscles you are experiencing symptoms in, it should pick up the characteristic "dive bomber" sound of myotonia.

Type of Myotonia: Becker

Country: USA

Hi Jenna...

So funny... I too thought that I was the only one in the world with this condition since I had not been diagnosed with anything, (despite three attempts on my part to convince doctors), combined with the fact that I never saw anyone having the same difficulties going up stairs...

Type of Myotonia: Probably Beckers

Country: Canada

Thank you Jenna for the information that you have provided. I'm going to see my GP very soon. I think I'm going to wait and see how this "Obamacare" thing is going to pan out. I'm paying a lot for healthcare now as my current job doesn't offer any health insurance... well not cheap anyways. So, I might be switching up my health plan here soon. But back to the topic at hand. Does anyone like me have it worse some days than other's? I think like everyone said it might have something to do with the temperature of my body.

Type of Myotonia: I think Thomson's

Country: USA

Hi Patrick

For my part, stress and anxiety will definitely worsen the condition. Therefore, if I live a very emotional/stressful event, I will be unusually stiff to the next 24 hours.

Alcool may also have an effect on the condition; if I take one too many (which is not very often;-), MC will definitely be worse the next day.

Cold will affect my face only and my ability to speak (canadian winters will do that to you)

Pete

Type of Myotonia: Probably Beckers

Country: Canada

Patrick,

You might have better luck going to an MDA clinic in your area. They are affiliated with large university medical centers. You can find the closest to you by going to their site at MDAUSA.org. They will cover any charges that your insurance doesn't pick up. Some do DNA testing, others don't. It's a fairly long process, usually starting with an EMG to see if you have myotonic discharges in your muscles. Then depending on the doctor and clinic a panel can be ordered to see which type of myotonia you have. Since your cousin is affected it is most likely Thomsen's. You don't need a muscle biopsy unless everything comes back negative and there is some other condition that needs to be diagnosed.

The main reason DNA testing is beneficial is because greater precautions will be taken if you need surgery or emergency treatment. After 30 years, doctors STILL don't believe me unless I have a copy of my DNA results in my records. Getting the right anesthesia protocol is crucial...even if you've had uneventful surgeries in the past, that doesn't mean you won't develop a life-threatening reaction in the future.

I'm glad you're finally finding out what the mystery condition is in your family :-) For some members in my family it was a relief and others denied it in spite of obvious symptoms. I think the goats are good ambassadors even though some people don't like the association.

I have been able to control my symptoms with diet and avoidance of things like pesticides and herbicides, certain medications and stress (when possible). I had too many side effects from the medications I did try years ago. I never used Mexitil, but I don't really need it now. Back then I was so stiff I could hardly get out of a car and sounded like I was drunk when I answered the phone. When I was young I had a lot of trouble with choking and thought I was going to die. I would go to bed with my Bible under my pillow and say "Now I Lay Me Down to Sleep" with great seriousness for a chld! The doctors my mom took me to thought I was making it up and that I was just high anxiety. It breaks my heart that there are children all over the world going through the same thing right now.

Please keep us posted on your diagnosis journey!

Jan

Type of Myotonia: Thomsen's

Country: US

Jan,

Thank you so much for the info. If there is a such way to suppress the problem rather it be through diet or medication then I'm all for it. Over the years, I was heavily involved in sports, specifically flag football. I had to stop playing because of too many episodes and I would try to take off and would end up stiffing up and in many cases falling. I injured myself pretty badly playing FF when I jumped to catch a pass and stiffened up in mid-air and on the way down I couldn't land properly therefore hitting the ground pretty hard. I would love to get back out there and start back playing again but I wouldn't be able to with my MC being this bad. I will certainly take your advice and go to an MDA. That sounds much more beneficial to me and furthering the research on MC.

Type of Myotonia: I think Thomson's

Country: USA