I'd like to know what this all really means...exon 8 hot spot for dominant negative, etc. Could you post it in terms for those less MC savy? Thanks

The article is geared toward genetic labs who are testing for MC. I suggests that based on the study those with a family history indicating a dominant mutation would be more likely to have that mutation show up on exon 8.

Gene sequencing when looking for a mutation can be quite time-consuming and the authors suggest starting with exon 8 first, then if nothing shows up, go on to other possible locations. The skeletal chloride channel (CLCN1) has 23 exons.

Jan

hello everyone i have just printed out the paper all 10 pages it will give me something to read later,i am in the middle of writting my story,not as easy as i thought,but i will get there, jan could you explain why adrenaline has such an effect on our muscles? in an instant i can become ultra stiff if i am emotionally upset by someone,a dignified exit,especially from a sitting position is impossable. i am assuming it's adrenaline.also does anyone else know if they have a virus way befor they actually feel ill,my leg muscles let me know, or am i nuts?

Type of Myotonia: MSN Messenger,3

Barb, I've tried to find a simply written scientific explanation as to why adrenaline makes us stiff, but so far no luck.

A sudden release of adrenaline does cause depolarization (contraction) of the muscle cells which causes abnormal strength in a normal person under emergency situations. Since it takes our cells much longer than normal to repolarize (relax) that could be part of it, but I don't know if it's caused by a sudden influx of potassium into the tissue surrounding the cells or something else.

The same effect can be induced with epinephrine, for instance using an inhaler for asthma or getting a shot of local anesthetic with a vasoconstrictor.

This is one of the most troubling symptoms of MC as far as I'm concerned and can be the most dangerous. I learned to control my adrenaline response through biofeedback and it helped tremendously. I felt that as a personal trainer it was crucial for me to be able to respond to an emergency without being incapacitated by stiffness.

I think "feeling" a virus early on is related to potassium shifts, too. I notice the same thing.

Jan

Jan, do you know anything about the Dept. of Vocational Rehab Services. I'm told it is in all states and helps those that have disabilities for college. My understanding from a college is that this organization is in every state and they help fund children with disabilities for college. Do you know anything about this program and state service? Thanks, in advance, for any input you have. Best.

Yes, every state has a Department of Vocational Rehabilitation with offices in many cities.

I've worked with them for over 20 years and they helped me find employment when I was declared disabled (not from MC but other conditions).

The process is usually to go to an orientation, fill out an application, meet with a counselor, and find out if you qualify. Over the years the income guidelines have gotten stricter and you will probably be sent to a doctor for an evaluation of your work capabilities. You have to be able to work, but need help with adapting to work environments.

They may pay for tuition, books and transportation for college. In some cases they pay for interpreters, tutors, etc. It's much harder and time-consuming to get help if you're trying to set up self-employment...training for gainful employment is their focus.

I have worked with five different counselors over the years and they were all wonderful. I was able to learn trades (bookkeeping and web design) and that allowed me to work both outside my home for many years and later from home with our own businesses.

If you look under your state government pages in your local phone book you'll find the contact information.

Jan

We have recently learned about Vocational services. I have a daughter about to start college and the info. that was given to us was in re: to her inability to type on a computer and manipulate the mouse, they told us about Voice activated equipment that could be available to her, also in re: to getting to class on time---filing what they refered to as a 504 form, enabling her more time to get to her classes without any recorse, as well as additional time for taking tests, ect.--they told us once this form was entered into the system it would "follow" her throughout her college years.
Info. was also given to us in re: to Grants that are available to those who suffer from a disability---which could be very helpful with paying for college.
I also, am filing a 504 form for my youger daughter who is in 3rd. grade, we have notice that she is falling behind, incabable of keeping up with the fast pace of the classroom curriculam---even though she may not have a learning disability--I am told that it is best to at least have her tested just to be sure.

I have also had to have their Dr. write out letters to give to the school, So, that they will not be docked on their grades when they can not participate in certain P.E. activities, and to have the ability to sit out and rest if needed.

Hi Beth - My husband bought me Dragon Naturally Speaking for the holidays - it is the voice recognition program most used by medical and legal offices, and by ergonomic and vocational counselors, at least out here in California. None of the voice recognition programs are a snap to use - you have to spend time "training" them to your voice and speech patterns, but then they are really a lifesaver... lois

I've used a speech recognition program called ViaVoice for the past 8 years. I wouldn't be able to use the computer without it. I use it both for dictation and command and control. I have to say though that I wouldn't recommend speech recognition unless it is really needed because it adds to the complexity of using the computer and often makes mistakes and/or malfunctions. In fact there are forums designed to help users deal with speech recognition and its difficulties.

Each revision of ViaVoice has improved the program, but Dragon has bought ViaVoice and appears to have no intention of keeping it up to date. So all we ViaVoice users will eventually have to switch to Dragon. So at this point, it looks like Dragon is the way to go for new users. Speech recognition programs are becoming increasingly capable, and I'm sure that Dragon NaturallySpeaking will get better and better in the years to come.

Anne H.