HNPP/CMT 1A - to Bree Anne

May 25, 2006

Hello Bree Anne,

You need to understand HNPP and CMT 1A are genetic opposites, one has

a deletion of the gene, the other has a duplication. Having said

that, it seems to me that your neurologist would have suggested the

DNA genetic test for you. Yes, if you are concerned about your

diagnosis, I would definitely have the genetic test done. Athena

Diagnostics has a " Patient Assistance Program " set up for payments

and my best advice is to contact them, ask to speak to Amar Kamath

if you can, tell him I sent you, ask him all the questions about

billing and payment, insurance, if/what you will be required to pay,

etc. He can also give you and your doctor all the information for the

blood draw and shipping to the lab. Here's Athena's website:

Here's a link to all the tests that are under the " peripheral

neuropathy " category, which include both HNPP and CMT 1A

te.asp

So you'll want to talk this over with your doctor to make sure your

blood is tested for all that it needs to be.

As for symptoms, CMT has 'evolved' over the years, and many of the

websites still present 'Classical symptoms'. High arch feet, curled

toes, etc. However, persons can also have flat feet, NOT have

footdrop, and not necessiarly be adversely affected. Our own

group shows the wide variations of how CMT as a 'syndrome' affects a

very broad section of the population.

As for numbness, I have had this off and on with my burning feet just

about my whole life. It is sporadic, comes and goes with no pattern,

and I just got used to it, to where I don't notice it much. I will

tell you that increasing my time in aquatics has taken this away more

than anything which I find very interesting. If the numbness comes, I

change the activity I am doing, move in different ways, and it stops.

(and yes, I have CMT, an axonal (type 2) form unknown by me since I

have not had the DNA testing, but my EMG/NCV report confirmed this.

Have you contacted the people at http://www.hnpp.org/ for information?

I guess my questions to you would be why does your neurologist think

either HNPP or CMT 1A - is this based on family history? Also what

did your EMG/NCV report show?

~ Gretchen

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