That's a reasonably decent description, although not very complete. It totally ignores the effects of stress, nerves, fright, agitation - for instance, while one's tongue might be a bit stiff for a couple of seconds when you first start speaking in normal situations, if you go to court and are being questioned, and you are nervous or afraid, you might very well sound like you are drunk or have cotton balls in your mouth, because adrenalin exacerbates and prolongs the symptoms.

I am so sensitive to any stimulants of any kind. I somehow never began drinking coffee, or cola, or anything with caffeine in it. I don't know why - maybe my body just knew. I know that the few times I have had colas or coffee, I was SO stiff for a couple of days, and my muscles ached. If I am in a very stressful situation, my body aches like I have the flu, from the tightness of my muscles. And if I am really startled or frightened, you can literally just push me over with your finger, and the residual pain of the intensity of the muscle contractions lasts about 2 days.

So while this little blurb gives a very basic and simple description, it is VERY superficial and narrow, in my opinion and experience. I lived for 54 years with this thing, before it was diagnosed, so I learned to minimize it, deny it, ignore it, laugh about it and lie about it... but now that I know I was not dreaming, faking or fabricating, I do find that I resent how inconvenient it seems to be for the scientific and medical world to acknowledge the breadth of impact this thing has. I am constantly discovering more little bitty things that, in and of themselves, are fairly minor and inconsequential - but when you tie them all in together, you realize that this condition has many varied effects on us. Not earth-shattering, but it sure would be nice to have it all cataloged and accepted.

Sorry for the rant, but I'm feeling a bit indignant! Maybe I'll start a list of things that seem to be connected to MC somehow, and see if others want to add to it, or discuss some of the issues... maybe we could submit it to someone, and see if they care to know how "real people", intelligent, educated, responsible, rational people, view life with this thing. Lois

Type of Myotonia: Myotonia Congenita, Becker's type

Country: USA

Hi Louis:

I do agree that the description leaves a lot to be said, but I liked how it described the warmup effect because when I was really bad it was always a fleeting thing and if I increased the intensity of what I was doing while I was doing it, ie, stepping up a curb while walking, I'd often have a problem again. So this big "BUT...." I would always throw in when my doctors asked if I got better with movement was always a head scratcher for them :-)

I do agree the cumulative effect of the disorder can be particularly taxing, and this has posed a big problem for me as I get older and have to compete with people who don't have invisible mill stones on their back all day. With the exception of being able to be pushed over at the moment, my symptoms are nearly identical to yours and I've worried about the same exact things with being pulled over or having to give depositions and things of that sort.

I do understand why the medical/research community has been so conservative with the description of MC though. In most research, the researcher is discouraged from publishing anything which they can't directly substantiate, because their ability to get funding often hinges on their reputation. People researching MC are further constrained because funding is scarce for such rare disorders anyway, and sample sizes generally tend to be small. Combine that with the fact that the disorder has such high variability, and the only fairly consistent thing you get among everyone is the dive bomber sound and a particular dislike of the cold.

I've considered doing a survey type study of my own to try to correlate symptoms with mutations but I don't have the time at the moment, and when I've tried to do this on an independent basis in the past, I found a lot of people were generally not forthcoming even when they could participate anonymously.

Perhaps a web survey type thing could be implemented though.

Type of Myotonia: Becker

Ah, but here's a glitch - I have always been highly intolerant to heat, most particularly humid heat. It makes me feel quite weak, faint and ill. I also perspire ridiculously freely when it is hot and humid, and this is even when I am not even moving. I LOVED the cold weather in my youth - I almost never wore a coat unless it was snowing or below 30 degrees. I felt so invigorated by the cold - and since I was always stiff, but ALWAYS moving and very active, I really felt no difference between horseback riding and ice skating, roller skating or shoveling snow. I always worked my muscles really hard, because I felt like I needed to.

Now that we have lived in San Diego for 21 years, I have become a wimp, and no longer tolerate the cold well - and now, to me, "cold" is below 60 degrees! HA, how the mighty have fallen!! But I also find, as I get older, that I move more slowly, mostly because of several injuries I've sustained, and I am not in a rush most of the time, so I have fewer really bad cramping or spasming episodes. I can no longer walk as I always did, and so rarely have to worry about crossing streets (this was a real source of fear and self-consciousness for me, growing up in New York City, and walking miles per day).

I would be willing to participate in a survey for you. I don't have any reservations about sharing my information with people - I find that my openness about my problems and foibles often opens the way for others to share about themselves, and I really don't see any problems with that. I know some people are very private about "personal" information - I don't find this to be "personal" in any regard other than that it is about me. To me, sharing personal stuff has more to do with feelings, perceptions, etc.

Anyway, didn't mean to go off on a tangent!I know researchers have to be very careful and objective about their research - I think the people I was referring to more specifically are physicians, who are quite cavalier and abrupt about informing you that this condition is minor, has no associated pain, is not dangerous, etc. These statements are inaccurate, and most doctors appear completely closed to learning an actual patient's perspectives and experiences, because it rocks the boat, and doesn't jive with decades-old literature. It's much easier to dismiss the patient as an aberration, a whiner or a crackpot. I'd love to have a compilation of patient stories, experiences, symptoms, and present them to the American Academy of Neurology or some such group, just to say "We may be a small group, but we want to be correctly identified and respectfully evaluated and understood!".

OK - off my soap box for now! Lois

Type of Myotonia: Myotonia Congenita, Becker's type

Country: USA

Louis:

And therein lies the conundrum! We have a very grey disorder in a black and white world. In some respects we can be very able bodied and active and in some respects we can be very limited and I think that's part of what makes it very difficult to explain to people. I go down the list of things I know I can and can't do, or at least can't do well, and even I have to admit, it sounds contradictory sometimes but it's only contradictory in the sense that the world is flat.

I've always had a problem with the cold making the myotonia worse, and I prefer it to be a bit warmer in the house than not, but these past few years I've developed bad heat intolerance as well, and like you, I get incredibly weak if I get overheated. I grew up without air conditioning at home or in our cars and, though I did hate the heat and did get over heated, I generally did just fine. I even managed a trip in 2001 from the coast to the Sierras in 95 degree weather. The air conditioner in the van I was in broke down in Bakersfield and I was the only one who didn't care. But in 2003 I took a trip to Hoover Dam and I was the only one in the group who was in desperate search of shade. I've had to spend the last few summers laying directly in front of the air conditioner feeling like the life has literally been drained out of me, and I feel very strongly the disorder plays a part in this.

I never thought I'd say this, but I NEED air conditioning!

BUT....I also need heat :-)

Anyway, no need to apologize for going off on a tangent. Trust me, I have days!

Now that I have finally been typed, I would be more than happy to compile a story for you. I've been meaning to do it for a while but haven't had the time, unfortunately.

Jenna

Type of Myotonia: Becker

That description used to be from wikipedia, but it looks like they erased it because it did not meet "their" standards. It did not have citations and the like. Part of that article was written by someone else and the part about the social effects was written by me. Jan also read it and made some suggestions that I added and changed to what I originally had written.

I guess we need to find the correct citations that backup the fact that we face significant social issues with this disease. Also a complete medical explanation may be needed that is backed up by significant research. This would be a good opportunity to find out what researchers in the field are saying about MC and what they are leaving out. We should contact them directly.

Type of Myotonia: Thomsen's

Country: US

Jim,

I had also noticed that they had removed that whole section from Wikipedia. I didn't go through all the comments to see who did it or why, but I'm glad it's somewhere we can refer to.

Jan

Type of Myotonia: Thomsen's MC

Country: US