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First post

This is my first post. Being estranged from my father and his family(who i inherited my condition from)I literally have a million questions. realizing i cant find all my answers without seeing a specialist(which even then this disease seems so complex and vaguely understood that im sure still would not) ill try to keep it direct and to a certain point. Im a 24 year old male with no other medical coniditions besides moderate anxiety(I believe unrelated).Ive always been an athlete of some sort most my life acompanied by off and on strength training. Referencing Jim's video posted above, i can remember these extreme cases of lasting contractions and falling over from when i was much younger(K-5th grade), but since devoloping my muscles theres seems to be a lasting(days)affect from the "Warm-up effect". Ive found over the years that during my periods of frequent weight lifting ive diminished the symptoms of my thompsens disease. Understand, by off and on i mean i lift everyday in some cases for months or years and for whatever reason stop altogether for months maybe years. And Symptoms return during periods of non-fequent activity. Recently, ive put my self on very strict(some would deem over the top) diet and workout routine(Body-building).Brought to my attention is that for the past 6 months(Spring and summer) ive had virtually no symptoms associated with the following: Emotional Stress, long periods of rest, sudden movents(like jim sprinting or walking up stairs) or INFECTION( normally a "death-sentance" for me, meaning it was a garantee of almost complete paralasis shortly following). This is all very encouraging for me except there is one catch and a part of my BIGGEST QUESTION for others with thomspens. There is one set of symptoms that is complety unaffected by exercise and that is Cold weather(65degrees and below) and sudden tempature fluxulations(for example: walking from an outside tempature of 90 degrees to an air conditioned house set at 70 degrees). theres not much about this online but i cant be the only one who is so cursed by the cold. within 5-10 minutes every exposed muscle in my body(always hands and face first) will begin a slow contraction thats immediatly followed by severe weakness that lasts for hours, sometimes days.Being that im from indiana and winters are fairly long and cold here(not to mention right around the corner)this becomes a daily struggle for me. Most that i complain to just tell me to put on some extra clothes(which i obviously see as a good idea) but its a little more complicated than that..I should mention that the small muscles in my face when affect by tempature always return with tempature regulation(warmth) with no weakness...just something i was looking for some input on. its very hard to explain to someone ,who has no idea you have MD or any condition, why your face is suddenly horrificly disfigured after standing in the cold waiting a bus too long or what have you.But ive delt with it my whole life. Im open to any questions, and would love to get the chance to speak to someone with the same condition as me,as ive never done so.

thank you for reading
Ryan

Type of Myotonia: Thomsens

Country: United States

Re: First post

Welcome, Ryan!

Most of us can identify with the cold sensitivity. Have you had DNA testing to determine the exact mutation you have? If not it's possible that your family has a sodium ion channel called paramyotonia congenita instead...that tends to cause even more severe reaction to cold. Hyperkalemic Periodic Paralysis is also worsened dramatically by the muscles getting chilled.

There is quite a bit of information published for anesthesiologists that warns about myotonia worsening if the patient gets cold enough to start shivering. The protocol for all the myotonias (myotonic dystrophy, myotonia congenita, etc) is geared toward keeping the patient warm along with avoiding triggering anesthetics. This is a paragraph from a recent article in an anesthesia journal:

"In our patient, we were careful to maintain normothermia to minimize the risk of triggering a myotonic episode that might have made ventilation and further airway management difficult. The ambient temperature was increased, all fluids given were warmed, and the inspired gases were warmed and humidified." Anesthesia in Congenital Myotonic Dystrophy Case Report

I suspect that because you're in very good physical shape you probably have very little body fat, so your body is going to use shivering to try to keep you warm. It is initiated by an increase in output of adrenaline. That uses a great deal of ATP and you diminish glycogen stores very quickly. It also causes a shift of electrolytes which can cause the symptoms you experience.

Living in Colorado is quite a challenge for me. I do dress in layers, always keep my head and face covered if I'm out in the cold for long and I often use Therma-Care Heat Wraps to keep my back or neck warm which in turn seems to help with cold tolerance. I have seriously considered getting the battery heated clothing to help:
Gerbing's Heated Clothing
There are several companies online that sell heated clothing items. As much as I love football, I usually watch it in a warm living room rather than a cold stadium.

Jan

Type of Myotonia: Thomsen's

Country: USA

Re: First post

Just to add another piece of the puzzle. I've read that adrenaline causes the body to release acetycholine between the muscle and nerve junction....kind of like a primer. It's the autonomic nervous system's way of saying "Here, let me contract those muscles for you!"

We had a few small earth quakes a few weeks ago that took me by surprise and I was pretty much symptom free before and during but then I made the mistake of sitting back down before I had metabolized the adrenaline and when I stood up a few seconds later...well, that's all I did, was stand up. I had instant lead legs. I went from a 1.5 to a 6 pr 7 on a scale from 1-10.

Type of Myotonia: Becker

Country: USA

Re: First post

Ryan:

Many of us notice our symptoms become more mild with regular exercise, and many individuals with MC have seemed to come to this conclusion independently. The reason for this is unknown. I could only speculate as to why cold tends to make MC worse...it's probably something to do with the fact that cold tends to cause people to tense up anyway, so maybe we just experience an amplification of that process. I live not far from the beach and on cold days sometimes the wind funnels down the street and strikes the back of my neck as I'm walking and my neck muscles in the back will contract instantly to where I can't relax them at all, and Instantly start to get a massive headache from the neck strain.

I have problems with weakness in my hands as well though I'm not really sure what causes it. I've had severe weakness that has coincided with myotonic attacks in my hands, precipitated by strenuous activity, where my hands were both difficult to relax, and weak, and burned, and I've develop weakness in my hands...often after strenuous activity, without much myotonia. When I was in school, and had to do a lot of writing, by the end of the quarter I had a lot of trouble with my hands. Sometimes I have to rest them halfway through address an envelope, sometimes I can write a few pages of things. I wish there were something I could do about it but I've yet to find anything that helps.


Type of Myotonia: Becker

Country: USA

Re: First post

Ryan
Im open to any questions, and would love to get the chance to speak to someone with the same condition as me,as ive never done so.

thank you for reading
Ryan


I have yet to actually meet anyone with MC but this forum has at least allowed me to share experiences with other people who understand what I've been through. That's one of the great things about this site.

I've also learnt more about MC since posting on here than I did in 30 years of medical care!

Just to reciprocate, if you have any questions then fire away!

Type of Myotonia: Becker's

Country: England