my introduction

[Guest guest]

Hi,

My son is currently under going CMT genetic testing with Athena Diagnostics.

His neurologist told us that they have never seen results like his and are doing

a retest. It is a form of CMT but they can't state that offically until the

retest comes back in approx 1 month. I may be joining this group too early

since I don't have a definite answer yet.

Long story short my sister has been dealing with Lyme disease and her new

neurologist learned about my son and had her tested through Athena also. She

was told the same thing that they had never seen results like hers before and we

let them know about the relationship between her and my son and they are pretty

sure that the CMT is hereditary. All that she was told is that is was a type of

CMT but they couldn't tell what kind and that it involved the MPV gene that has

to do with the myelin sheath.

I would appreciate any information on this as we don't really have a clue as to

where to start and researching on line has been

difficult as we don't understand most of what we are reading about the MPV gene

and I would also appreciate any info on long term issues with CMT.

My son is 17, has extremely high arches, hammer toes, has been diagnosed with

severe sensorimotor peripheral polyneuropathy of axxonal type 1 (again don't

have a clue) and to us he seems to continue to have problems with walking,

balance, etc.

Thank you.