Quote:
Originally Posted by mindovermatter
Hey Susanne! You bring up a lot of good points. I was also slated for a Marfan's diagnosis but luckily it's not that bad. And it would be something if a car crash caused a genetic disorder. The whole medical field would turn on its head!
HNPP sounds just like me. I don't know how you would diagnosis it though apart from getting an EMG just at the right time.
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Check out this site on HNPP. It tells all about it and how it is diagnosed.
http://www.hnpp.org/genetics.htm
Simply put there is a deletion with HNPP and a duplication with CMT1A.