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-   -   Myotonia Congenita (https://www.neurotalk.org/neuromuscular/143331-myotonia-congenita.html)

JKelton 01-18-2011 08:28 AM

Myotonia Congenita
 
I just thought I'd toss this out there because it's a rare disorder and someone who can't figure out what the heck is wrong with them might look here.

Myotonia congenita is a neuromuscular disorder of the skeletal muscle chloride ion channel, which results in a delayed relaxation of the muscles after voluntary contraction.

So if your muscles get "stuck" for a few seconds after you contract them, you might want to consider the disorder.

Another interesting trait of the disorder is the "warm up" effect. The more the individual moves, the easier it is to move, until the individual rests again. This means the individual can have difficulty moving one minute, and be fine the next.

"Fainting goats" have this disorder.

twitchyfirefly 01-19-2011 09:50 AM

Similar symptom in MMN
 
"delayed relaxation of the muscles after voluntary contraction"

Funny, I get this sometimes (I've been diagnosed with MMN, multifocal motor neuropathy.) If I clench a fist, sometimes I have to forcibly unpeel my fingers.

JKelton 01-21-2011 03:42 AM

Quote:

Originally Posted by twitchyfirefly (Post 736420)
"delayed relaxation of the muscles after voluntary contraction"

Funny, I get this sometimes (I've been diagnosed with MMN, multifocal motor neuropathy.) If I clench a fist, sometimes I have to forcibly unpeel my fingers.

Interesting. I'm not familiar with that disorder. Did they do an EMG? True myotonia is fairly easy to distinguish from other things using an EMG.

twitchyfirefly 01-21-2011 12:09 PM

Mmn
 
Quote:

Originally Posted by JKelton (Post 737028)
Interesting. I'm not familiar with that disorder. Did they do an EMG? True myotonia is fairly easy to distinguish from other things using an EMG.

Oh yeah, I spent a week at the Mayo getting poked and prodded. I can attest that a 4-hour EMG is a thrill a minute.

tclapper2 01-29-2011 08:43 PM

Wow!
 
A four hour EMG?? What did they do for four hours?! I went thru 1 1/2 hours, and I thought my EMG would never end! How long did it take to get your appt at Mayo?

fward 08-10-2011 11:56 PM

thompson's disease
 
I was diagnosed with this disease in September 2010 anyone else out there with this disease? It has just recently caused me to stop working. Any one that has Thompsons I would love to chat.

dscvr 08-11-2011 02:37 PM

Quote:

Originally Posted by fward (Post 794647)
I was diagnosed with this disease in September 2010 anyone else out there with this disease? It has just recently caused me to stop working. Any one that has Thompsons I would love to chat.

I was diagnosed a couple of years ago and continued to work full time. Next week i'll be working part-time to take care of this...there has to be another way to treat this besides mexiletine. I just don't feel comfortable taking it with the side effects and such since there wasn't a dramatic difference. Trying to do research on the net for this is like running in circles. I want to find a doctor that is willing to experiment...what do you have to lose when your in pain every second of the day, right? I'm tired of reading that this is not a painful disease when that is absolutely 100 % false.

twitchyfirefly 08-13-2011 01:36 PM

Quote:

Originally Posted by tclapper2 (Post 739755)
A four hour EMG?? What did they do for four hours?! I went thru 1 1/2 hours, and I thought my EMG would never end! How long did it take to get your appt at Mayo?

What they did? They stuck needles in me and zapped me. All over. This being my third EMG of the year, I thought I was tough, but this time I cried.

Every neuro who has done an EMG on me ended up spending at least an extra hour. They get fascinated, or something. MMN is pretty unusual, so it must be like a butterfly collector coming across an extremely rare specimen.

It must be due to this rarity that when I called the Mayo they immediately accepted me and made an appt for the next month without even a referral. My Univ of Utah neuro was amazed; he said he's got another patient he's been trying for months to get into the Mayo. Apparently that person does not have MMN (I'm the only MMN patient he's ever seen.)

drumbeater 11-16-2011 01:50 AM

drumbeater
 
Quote:

Originally Posted by fward (Post 794647)
I was diagnosed with this disease in September 2010 anyone else out there with this disease? It has just recently caused me to stop working. Any one that has Thompsons I would love to chat.

i was diagnosed in 2000 after a carpal tunnel test (emg). the doctor said quote you're not here to see me about this but do you hear how loud you're muscles are on the monitor ? i explained that i had never had the test and i would not know whether my muscles were loud or not. he said i am gonna write the term down and you may want to research it. he asked was i stiff alot , and my reply was yes and my brother complains with the same problem. he informed me that it was genetic and inherited and that if i had children i may want to read up on it. he stated it was not life theatening but could have some bad symptoms. i came home and read the case studies on the net and my whole world opened up. i finally had a reason for all my symptoms since i was in my early teens. i am 54 and suffer from stiffness in my joints and pain daily. it does not matter if i walk and play golf , work or sit still , i still am stiff and ache. i work in a hospital and have a rapport with many physicians and most are unaware of the term or the diagnosis. i finally have decided to seek help from a nerologist and try to determine if there are any safe and effective treatments.

litlebean 04-29-2012 09:51 AM

Quote:

Originally Posted by fward (Post 794647)
I was diagnosed with this disease in September 2010 anyone else out there with this disease? It has just recently caused me to stop working. Any one that has Thompsons I would love to chat.

:( sorry to hear that it made you to stop working. i read all the information i can get my hands on about MC and most of them say that its at its worst during your adolescent years. i strongly disagree with the reports. im in my 30s and in so much pain. ive always done my best to hide what i have. this is not easy to do. my legs are huge, i trip over things that arnt there, when getting up from sitting or laying down one of two things happen. i either stand and walk like frankenstein. or i stand up all wobbly and do my best not to fall over. and stairs...man i hate stairs. so many serious close calls. i try to hide it because im tired of trying to explain myself, and im just so tired of not being able to sleep more then 2 hours at a time. some nights are just worse then others. see this is why i dont talk about it. it turns into me doing nothing but complaining. its just so frustrating. i hope you dont mind me asking, but ive never heard of someone having to stop working because of MC. i can say that ive missed alot of work due to myotonia congenita that has resulted in me being fired and i work to slow sometimes which the uneducated assumes it because im lazzy. big sigh what can you do:( o ya i to have thompsons


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