I am a 44 yo male who was diagnosed at age 12 with Myotonia Congenita. I have tried to live as much of a "normal" life as possible.I have noticed as i get older that symtoms seem to progress ever so slightly with each passing year. I have noticed, however, that warming up before strenous activity helps tremendously,and that winter really sux. My wife is very understanding and helps me throughout when I'm having a bad day.I am fortunate enough to have an office job where i dont have to lift very much or anything like that, and i look like i have been liftingh weights for 30+ yrs. My son also has it, and he,like myself have been trying to not let it get in the way of normal activity. I check from time to time to see if any new research has proven anything, and i havn't seen anything really new where the benefits outweigh the risks involved. I saw the diet thing that you have posted, and i just cant bring myself to go through with any of that, i need my 10 daily cups of coffee with cream,SUGAR, and chocolate flavoring.I have not paid much attention to bananas or anything else that I eat.I eat when I am hungry.I have noticed that after a couple (ok 4-5) beers,that i dont notice the stiffness at all. i have tried naproxen,when I injured my back trying to do something really stupid by lifting 200lbs or so, and since i had some left over, i save them for really bad days, and they seem to help.I believe they are an anti-inflamatory, so I have no idea how they may/may not be helping.

Good luck to all of you,I'll check in from time to time

Type of Myotonia: dw307,2

Dave,

Thanks for the introduction. Have you ever taken medications for the myotonia? Years ago it was common to be given Diamox or Dilantin. Now they're leaning more toward the anti-seizure medicines like Mexitil or Tegretol. My hope is that some day we'll have a drug targeted at our specific disorder with little or no side effects. I don't think it's that far-fetched, but our condition is just too rare to get much attention from researchers.

I think you would see a pretty dramatic change in the stiffness if you gave up the coffee and sugar, but I know it's not worth it to most people. Four or five beers might help a bit with the stiffness but it doesn't exactly fit in with our family-friendly focus :-)

Jan

I too have had MC all my life, although I was just officially diagnosed a year ago.I have known what i have for awhile, since i have 3 out of 4 daughters who suffer from Md as well. I have taken them to the Dr. for dianoses and just fiqured i didnt need to go since like i said i have had it all my life and have (or so i thought) learned my limitations and how to deal with it. But as you mentioned as i get older (i am 38)it is getting much,much worse, that i finally had to seek medical care...i am in so much pain, at all times and my ability to use my muscles in any way is painful and exhausting....i find the simplest of tasks are a challenge......i have had to quit working and thankfully thru my employeer i have Long term Disability....so i do still get payed. Thankfully.
My ability to deal with stress is non-excistint any longer....if i get stressed my muscles completely shut down. and I also suffer from anxiety attacks, it has been a rough, rough year, and although i am now on 2 different types of musclular med.'s it still does not help completley....i'd say it helps me about 30%. Some day's I do feel alright, but then if i over do it because i do feel good and i think i can do more....i end up paying for it the next several days, because i am layed up in bed. it's a never ending cycle.

Hi Beth! Two of my three daughters inherited MC. At least we all understood what the others were feeling.

Do you have myotonia congenita (MC) or myotonic muscular dystrophy (MMD)? It sounds more like MD from what you're describing. MC is not progressive and although it may seem to get worse as we experience some of the other effects of aging, there is no clinical progression.

The two conditions are often confused, especially in early stages, but they are caused by completely different mutations with very different outcomes. Have you had a DNA test done? That's the only way to know for sure.

It's great that you were able to get disability but I know you'd rather be out and working. MC is not considered a disabling condition - it usually is only considered a factor in combination with another muscle conditions or injuries. However MMD is automatically considered disabling and is recognized by Social Security and other disability programs.

Hope you feel better and find a good combination of medications to treat the pain. Have you seen a rheumatologist? You may have some fibromyalgia or myositis on top of the myotonia.

Jan

i am told that i have para-myotonia congenitia---although the dr.'s do confuse me by then saying they are not all to sure what form i have at this point. yes, I did have a DNA test....it was negative. i was told that even though you have a neg. result does not mean in any way that you do not have MC....i read (obvioulsy) alot on MD diseases, and i feel that most of my symptoms are similar to MMD, but the Dr.s wont confirm that at this point...they just keep putting me on med,'s to see which one is going to work best for me....right now i take 450mg of mexilitine a day and 300mg of phenytoin. although i dont feel like they help me alot....i do know that if i wasnt on them at all.....i would be much,much worse off.

Beth,

Have you been to the Periodic Paralysis website? (www.hkpp.org) They have a great e-mail list and there's quite a bit on the site about paramyotonia congenita (which is a different ion channel disorder).

If you had a test for myotonic muscular dystrophy (both types) and it was negative, then that is accurate. It's pretty cut and dried. However the doctors are correct that the test for myotonia congenita may show a negative and that only means that your specific mutation may not have been identified. You will have the best shot by using Fullerton Genetics in North Carolina. They actually look for new mutations when they check your DNA.

Getting tested for one of the periodic paralyses (including paramyotonia congenita) is much more difficult. There is a lab in Germany that you can use for free if you join the Periodic Paralysis Association (www.periodicparalysis.org). Membership is free.

I don't think you have myotonia congenita from your description of symptoms, but paramyotonia congenita is definitely a possibility. I sure wish they had come up with different names so it isn't so confusing to sort out all the myotonias!

Jan

Hi Beth! Hi Jan!
I guess it's easier for some of us than it is for others,although there are days I have spent the entire day in bed due to stiffness/pain. I have not tried any medications yet, as i want to wait as long as possible without them to get the maximum effect.As long as I can go without it i will.I read some of the possible side effects of the meds and , frankly, I'm not impressed.

I saw something in the forums related to hyper-cold or something like that? what is that exactly,it seems like my problem gets worse in winter(indiana),and i do my very best to stay warm.

Something I really hate...when your throat muscles stiffen up during eating,and somebody assissts you by beating your back..all it does it make it worse...

Type of Myotonia: dw307,2

hi dave,
yes, i too have alot of difficulty is the winter months, even though i do live in Arizona and the winters are not half as bad as other states, it doesnt matter cold is cold and it effects us the same. It could be 110 degrees out side but if the pool water is cold, it still effects all our muscles the same, i am not sure what "Hyper-Cold" is. i am refering to an MD conditionn called Para-Myotonia Congenitia. I did not want to take the drugs either.
But it came to a point where i was so incredibly miserable in pain, i had no choice. I have not had an bad side effects by the med.s'---so far.

On really hot days it seams that i become weaker, colder days don't bother me as much as hot days. Because when golf starts it's nice and cool, and sometimes really cold, but then when it gets to really hot summer days, sometimes i feel really weak....

Hi Dave - I wanted to let you know that Naproxyn is the medication which is in Aleve and other over-the-counter meds. You probably got a prescription strength, like 500mg, but you can by the non-prescription strength in any drug store, and take 2-3 of those - it's the same thing. Also, I wanted to let you know that you can mostly avoid the swallowing problem if you a) swallow with an empty mouth before you start drinking or eating, b) be sure you begin with just a small bite or sip for the first swallow, and c) if you do tighten up, bend your chin in towards your neck and slightly to the side (a therapy trick we teach stroke victims and others who experience swallow issues, and breathe very slowly and deeply through your nose. Just don't panic, because that tightens the muscles even more. It's something we just have to live with, but if you stay aware, you can usually avoid it! (unlike the punched-in-the-stomach feeling you get when you sneeze!) Hope this helps - lois (lolonurse) oh- also - iced drinks make it worse.

hi lois i just read the answer you gave to dave about swallowing, very true, i think we do a lot of things automatically and dont even realise we are doing it ,it made me laugh ,what you said about sneezing.i hate getting cough's too, a bad cough can leave me bent at the waist and groaning for quite a while.

Type of Myotonia: MSN Messenger,3

oops - and maybe, the "hyper-cold" was hyperthermia? does that ring a bell? lois

thanks lois

Type of Myotonia: dw307,2