Jump to content
RemedySpot.com

introduction

Rate this topic


Recommended Posts

Posted

Hi, My name is Holly. I am 36 yrs.old and have CMT type 1A. However, mine is

not a duplication or deletion in the pmp-22 gene, it is a sequence alteration in

the proteins, which accounts for less than 5% of the type 1A cases (according to

the lab report from Athena diagnostics).

I am married and have 2 children (7 & 19 months). So far, neither show signs of

CMT. Not sure which side of the family my cmt came from, but me and my 3

siblings have it. None of the extended family have been diagnosed with CMT. My

older brother is very affected, my youngest sister has unnoticable signs.

I have bilateral foot drop and wear AFOs. My hands are less affected, but I

have a lot of difficulty with them. I have a very difficult time handwriting

and typing causes my hands to cramp and burning in my wrist.

I was an RN for 12 yrs. " Retired " in 2005. Simply could not work anymore due

to fatigue, weakness, problems with hands, legs, etc. I suffer from a lot of

fatigue as do my siblings, not sure if because of the type of CMT we have.

Would like to know if any one out there has the type of CMT we have with the

altered pmp-22 gene. It's nice to read posts from others who know what you are

going through. Alot of helpful info also on the posts.

Holly

Join the conversation

You are posting as a guest. If you have an account, sign in now to post with your account.
Note: Your post will require moderator approval before it will be visible.

Guest
Reply to this topic...

×   Pasted as rich text.   Paste as plain text instead

  Only 75 emoji are allowed.

×   Your link has been automatically embedded.   Display as a link instead

×   Your previous content has been restored.   Clear editor

×   You cannot paste images directly. Upload or insert images from URL.

Loading...
×
×
  • Create New...