Curtis,

It definitely sounds like an ion channel disorder...it's kind of like you short circuit and freeze up because of an electrolyte imbalance in the cells.

The possiblities would be periodic paralysis (both hypo and hyper which means too much or too little potassium), myotonia congenita, or paramyotonia congenita which kind of acts like a combination. There are a few other rare types that he could have, but those are the main ones. To see a complete list, go to http://www.periodicparalysis.org and click on "Genetics Learning Center" on the menu.

What you described as far as sports is exactly what I've experienced. I loved softball, but when I'd hit the ball I'd turn to run to first base and fall flat on my face. So did my daughters with MC.

Because MC tends to let up after moving (if you can stay on your feet those first few moments) my very athletic daughter decided to run middle distance track. She focused on the 4 x 800 meter relay - there wasn't a lot of pressure coming off the starting blocks so she could catch up. Her relay team took first in state her senior year.

Sports can be difficult, but not impossible and once he knows what's causing the stiffness it will be more of a personal challenge than an embarrassment.

As far as medications, different mutations seem to respond better to different medications, but in general for myotonia the best seem to be Mexitil, Tegretol, or Diamox. They do have side effects which have to be considered. You may want to read through some of the posts on diet and pass them on. It makes all the difference for me and many others who have tried it.

If no one else in your family has symptoms then he would have a recessive gene mutation that's causing the problem (would have to be donated from both your parents). Although with myotonia it can be hard to tell because even with the dominant form, most family members can be asymptomatic. But it will almost always pop up somewhere, like in an aunt, cousin, etc.

The best way to get testing would be to go to an MDA clinic. It looks like you're in Sioux Falls...if your brother also lives there this would be the nearest clinic:

Neurology Associates
1200 S. Euclid
Sioux Falls, SD
Director: K. Gene Koob M.D.

The neurologists aren't always familiar with rare conditions like myotonia or periodic paralysis, but at least they can do an EMG and begin the diagnostic process.

Hope this is helpful!

Jan

Cutis Hi

I am female aged 50years old and read this website a lot because it gives great information as well as being able to read other people's interesting stories and facts.

I have para myatonia (periodic paralysis) and all of my life have never spoken to anyone with this. My experiences are varied and sometimes amussing I never played sports at school because I was a puny weedy kid always sick. I do however, know from more recent times, what you mean. I took up basket ball and cycling about 10 years ago and got on ok after "warming up". However, I used to become weak as if a plug socket had been pulled from me and I could lay down and go to sleep.

Does your brother have periods of complete paralysis where he cannot move his fingers at all, or his hands just go weak and he cannot open them?

This is worrying for you as you care for him, I can only say that this "thing" that we have, is easier to understand if we try to work with it. As Jan says, find a place where you can do things but differently.

Your brother will be ok once he finds his pace after trial and error.

This is a good website because there are always different people using it and all have different experiences where we can share each others tips and thoughts.

jane

i was diagnosed with pmc many years ago. i am now 48. i know that it is an inhereted muscular disease. my family was under a study by doctors in halifax,nova scotia, canada. we can trace this disorder in our family, back to denmark. it is from my mothers side. i have 3 other siblings and 1 daughter with it. it does not skip a generation. my son shows no sign of it. periods of dampness and cold ,also extreme heat can trigger it. i had worsening symptoms when i was pregnent. there is not a muscles in my body that is not effected. the more you move around and be active the better. lazing on a sunday afternoon plays hell on me. i have learned many ways in which to diquise these symptoms when they occur. just before waking away after standing up from a chair, i adjust my clothing for a minute before walking away. the mucsles relax, then i can move on. my younger brother had a paralizing episod a few years ago. he literaly could not move his legs. taken to hospital by ambulance, the doctors first thought he had rumatoid athritis. doctors have said that the symptoms would or should get better as we get older. also that medications left to many side effects, that we arprobably better off without them. bye for now. rhonda

The issues you describe remind me of me at that age, but I was diagnosed at age three with Thompsen's at the Univeristy of Wisconsin in Madison. So I did not have the issue of wondering what was going on later in life. Being prepared helped a lot. Your brother does not appear to have had that luxury.

But, even now I can relate with this exact issue. It happens to me on occasion, when I stand for more than a minute and wait for someone. Most recent was a common one too, happens all the time. Standing waiting for a friend at a check out line, and then trying to walk. - As I call them gimpy moments.

Also to note this, heat bugs me. If I feel overly warm, I know what is coming. I have found symptoms are less likely to be an issue at home temps around 60-65 instead of 68-72. Sound weird... well when ever I sweat from a room being too warm, I always have cramping and issues moving.

As was suggested he should see a nuerologist as soon as possible and get it diagnosed. With meds MC Thompsens [and one that is lesser than MCT] can be treated pretty well.

I AM URGENTLY TRYING TO MAKE CONTACT WITH PEOPLE WHO HAVE A DIAGNOSE OF PARAMYOTONIA CONGENITA.
I AM 55YRS OF AGE AND IN HERITED MY DISEASE FROM MY LATE MOTHER.WHICH FOR ME HAS BEEN SEVERELY DISABLING,I AM CONFINED TO AN ELECTRIC WHEELCHAIR AND AM SOME DAYS NOT EVEN ABLE TO LIFE A PLATE.
I URGENTLY NEED TO KNOW WHAT MEDICATION OTHERS ARE TAKING FOR THIS CONDITION.
IF YOU CAN HELP PLEASE,PLEASE CONTACT ME AS SOON AS POSSIBLE.AS THE DRUG I HAVE BEEN TAKING FOR THIS
PROCAINE AMIDE IS BEING DISCONTINUED.
VERY MANY THANKS,
BENITA. U.K.

Type of Myotonia: deleted

Country: deleted

Benita,

Here's a link that might be helpful for you:

http://hkpp.org/faq/paramyotonia_congenita

As you'll see, you need to be very careful with medications since different types of PMC can have different reactions and what works well for one person may make you worse.

I would suggest that you get on the HKPP mailing list for the Periodic Paralysis Network. You'll find other people with PMC who can help answer some of your questions (myotonia congenita is a different ion channel disorder so the medications and treatments are different).

Jan

JAN,
THANK-YOU VERY MUCH FOR REPLYING SO QUICKLY TO MY REQUST OF CONTACTING PEOPLE WITH PARAMYOTONIA CONGENITA.
I AM A MEMBER OF PPA AND HAVE RECENTLY BEEN IN CONTACT WITH THIER ASK THE EXPERTS TEAM.AND JACOB LEVITT MEDICAL DIRECTOR OF PPA GAVE ME THE NAME AND E-MAIL ADDRESS OF A SPECIALIST IN LONDON WHO SPECIALIZES IN MYOTONIC DISEASES.AND I HAVE MADE CONTACT WITH HIM AND AM NOW WAITING FOR MY NEUROLOGIST TO WRITE A REFERRAL LETTER.
I SHALL BE SO RELEAVED IF I CAN GO AND SEE HIM.
I TRIED CONECTING TO THE WEB SITE YOU SUGGESTED AGAIN,JAN BUT NO LUCK UNFORTUNATLY.
I ALSO USE THE M.D. U.K. SITE,M.D.A. U.S.A. WHICH IS VERY HELPFUL TOO AND OCCASIONALLY THE WORLD MUSCLE SOCIETY SITE.
I WOULD STILL VERY,VERY MUCH APPRCIATE HEARING FROM PEOPLE WITH PMC.

THANK-YOU ALL FOR YOUR HELP AND SUPPORT. BENITA.U.K.

Type of Myotonia: deleted

Country: deleted