Re: CMT, HNPP, my news, I'm confused

[Guest guest]

Hi in the Keys,

As I understand it, HNPP is the genetic opposite of CMT. So you have

one or the other. Here's the HNPP website for info.

http://www.hnpp.org/

<Currently, in 70% of cases, HNPP has only one genotype or gene

problem. This is the deletion of a segment of chromosome 17p11.2-12.

This segment of the chromosome contains an important myelin gene,

peripheral myelin protein-22 gene (PMP22). CMT1A, is genetically a

mirror image, containing an extra copy of PMP22 at the same site

that HNPP has a deletion. This one gene deletion, which causes HNPP,

has different patterns of presentation.>

http://www.hnpp.org/varieties.htm

I thought you had a confirmed CMT 1A diagnosis.

Right, about taking fluid from your spine, that is called a Spinal

Tap, it is used as a diagnostic tool, however, I will tell you it is

the worst test I ever had - far worse than the EMG/NCV.

~ Gretchen

[Guest guest]

Hi Gretchen,

I've been to that site, I've got to get more info from the doctor.

From what I understood, he was combining the two, but I could be

wrong. Thanks for the information.