Neuromuscular In memory of Rose Marie.


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Old 01-18-2011, 08:28 AM #1
JKelton JKelton is offline
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Default 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.
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Old 01-19-2011, 09:50 AM #2
twitchyfirefly twitchyfirefly is offline
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Default 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.
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Old 01-21-2011, 03:42 AM #3
JKelton JKelton is offline
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Originally Posted by twitchyfirefly View Post
"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.
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Old 01-21-2011, 12:09 PM #4
twitchyfirefly twitchyfirefly is offline
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Default Mmn

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Originally Posted by JKelton View Post
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.
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Old 01-29-2011, 08:43 PM #5
tclapper2 tclapper2 is offline
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Shocked 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?
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Old 08-13-2011, 01:36 PM #6
twitchyfirefly twitchyfirefly is offline
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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.)
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Old 08-10-2011, 11:56 PM #7
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Default 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.
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Old 08-11-2011, 02:37 PM #8
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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.
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Old 04-29-2012, 10:05 AM #9
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Originally Posted by dscvr View Post
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.
or that as you get older it gets better...lol ya right. i feel your pain and i also would be willing to be some ones test subject. im beyond frustration with this. and i would do anything to make it a litle bit better for my kids
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Old 11-16-2011, 01:50 AM #10
drumbeater drumbeater is offline
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Quote:
Originally Posted by fward View Post
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.
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muscles freeze up, muscles lock up, myotonia, myotonia congenita


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