Maybe a CMT diagnosis today?

[Guest guest]

Hi All

I have been poked and proded by Dr's since Aug last year trying to

figure out what is wrong. Today I got my $8000.00 DNA test back

from Athena that was going to prove " without a doubt " I had CMT

Everything was normal except the PRX gene. It says it has a sequence

alteration of an unknown variant. Which means quote;

" This analysis cannot be definitively interpreted due to the absents of

published studies correlating these variants with clinical presentation.

Therefore it is not possible to conclude with any reasonable degree of clinical

certainty whether or not this variant is associated with the diease in question "

My Dr said today, without a doubt I have CMT based on the test and

because of the arch of my foot being high, weak ankles, numb feet

and a off balance feeling when walking.

The PRX gene causes CMT4F which is very rare. When looked up on the

internet this is about all I can find;

" CMT type 4F is a severe form of recessive CMT that has been defined

in a large Lebanese family with mutations in the PRX gene on

Chromosome 19. Nerve conduction studies are markedly slow and onion

bulb formations are observed in nerve biopsies. "

Thats it. I am as far from Lebabese as you can get, I am a 6'5

Dutch/German, blond hair fair skin 48yo.

I don't know what to do now. The test was did not confirm CMT, but

yet the Dr wants to lable it CMT. Any opinions or help?