Thread: Possible PN
View Single Post
Old 03-23-2008, 06:51 PM
cyclelops's Avatar
cyclelops cyclelops is offline
Magnate
 
Join Date: May 2007
Posts: 2,049
15 yr Member
cyclelops cyclelops is offline
Magnate
cyclelops's Avatar
 
Join Date: May 2007
Posts: 2,049
15 yr Member
Default

Glenn, I have to admit, i wonder how some of these folks get diagnosed...it says, incidence of 'One' or 'two siblings from Bulgaria of consagnuinous parentage', or 'one family from Azerbajan'. LOL....is it a disease if one person and one person only manifests the mutation?? I suppose if some one is interested in the mutation, it is, but is it likely to be duplicated?? Hmm.

I too, am perplexed at the ever growing list of misplaced or duplicated AGTC's, and I think that is what my doc to a great extent is saying...this will cost tens of thousands of dollars right now....in a few years, the disease process, may direct him more, as to which tests are ball park, and which ones we can rule out based on symptoms.

Athena Labs appears to be at the forefront of CMT testing, and would be the likley choice.

CMT, and HNs are seeming to overlap, and even the myopathies are now getting tossed in there as a few have C fiber degeneration....the more we learn the more there is to know.

To think that PN was once simple...but then again thousands if not millions went undiagnosed due to a normal EMG! Oh wait, that still happens!
cyclelops is offline   Reply With QuoteReply With Quote