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testing for myotonia congenita Thomsens

Hi Jan,

I really like this forum----it has answered many questions about myotonia.

My question now, however, is about my daughter. She has never been tested and does not show any signs of myotonia. She recently had triplets (7 months old now). One of her sons will need surgery when he is 1 year old for a somewhat typical situation for boys. Our daughter is now concerned if in fact she might have myotonia and could therefore have passed it to her children. Before the doctors will agree for her to be tested (to rule out myotonia) they need information regarding this condition. The doctor's office has not been able to find enough info. Could you or anyone reply with a website that my daughter could access and then pass along to her doctor. Thanks so much. Anne

Re: testing for myotonia congenita Thomsens

Anne,

Your daughter is wise to take precautions because she could have MC and just be asymptomatic. Since you have already been diagnosed, they just need to rule out whether or not she has the defective gene. The quickest and easiest way to do that is with an EMG. If she has MC there will be myotonic discharges that show up very clearly. My mother has absolutely no symptoms, but her EMG showed the same "dive bomber" sound as mine.

The best site I know if is the article on myotonia congenita that was published by MDA's Quest magazine. Here's the link:

http://www.mdausa.org/publications/Quest/q86myo.cfm

In the section titled "Discoveries," the last paragraph says this:

"For most people, "the diagnosis of myotonia congenita is a clinical diagnosis [based on symptoms] with supportive evidence from the EMG [electromyogram] and family history," George says. Another important part of diagnosis is exclusion of the more common disease myotonic muscular dystrophy. In most people, this disease is caused by a genetic defect on chromosome 19 that's detectable by a commercially available test."

The anesthesiologist is actually much more important when it comes to surgery because they will be the ones to choose the agents that will be safe and not trigger malignant hyperthermia. In our family even our daughter who has no symptoms as well as her children have had surgery according to MH protocol just in case.

Here's a link to the Merck Manual online which states that diagnosis is confirmed with an electromyogram (EMG):

http://www.merck.com/mmhe/sec05/ch073/ch073d.html

Hopefully that will be enough information from reliable sources to approve her getting tested. The gene testing could take months to over a year, and muscle biopsies are painful and leave scars. If her insurance won't cover the testing, any MDA clinic will do the EMG for her for no charge to help with the diagnosis.

Jan

Re: Re: testing for myotonia congenita Thomsens

Hi Jan, thanks for the reply. I will pass this along to our daughter. Have a sunny day!!

Re: testing for myotonia congenita Thomsens

anne:
your daughter must be at least 20 years of age if she is having children of her own. if she has never shown any symptoms by now, its a sure bet that she does not have thomsens. you are born with this, and it can not skip a generations, therefore your grandchildren have no fear of getting it either. there are some simple tests that you can do at home. first: clench your hand in a fist for about a minute and then release. the fingers will want to re-curl and this can be painfull for a second. another good test, is to close your eyes very tight and squeeze them shut, open them and sqeeze tight again. if after doing this several times your eyes can hardly open, then you have myatonia. i think your daughter has nothing to fear.
hope i was of some help. rhonda