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Re: CMT X and a new baby

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Posted

Wade,

Yes, there are women with CMT X that are carriers only, then there are

women with CMT X who tested positive but are asymtomatic, then there

are women who have CMT X and their CMT symptoms are from mild to

severe.

Are you aware there is pre-natal testing for CMT X?

And yes, if you have a girl, and she does have CMT X, when it comes

time for her to have children of her own, she may choose Pre-

Implantation Genetic Diagnosis, get pregnant, and give birth to a CMT-

free grandchild for you :)

~ Gretchen

Posted

I see. So is there a way to determine if the CMTX girl will be a

carrier or not? From what you said it sounds like there is a chance a

girl might not have CMTX where I thought she would absolutly have it. I had read

that women with CMTX are most often not affected or mildly

affected.

What does pre-natal testing do?

It's good to know that if we have a little girl she will be able to

avoid haveing CMTX children. I guess I assumed that our daughter would be very

mildly affected and our sons would not get the X chromosone. I also assumed

that later in life I would be able to help a daughter pay for PGD when that time

came as it seems expensive from all that I have read about it. My wife and I

thought we had this figured out.

Yikes!

Wow... I'm pretty neverous that I didn't know as much about the

inhertance pattern of CMTX as I thought I did.

Wade

Posted

Wade,

Take this link and scroll down to the bottom. There are now 5

subtypes of CMT X, 1-5.

http://www.neuro.wustl.edu/neuromuscular/time/hmsn.html

Your new baby can be DNA tested whens she's at least 6 months old.

You can find out then if she tests positive, is a carrier, etc.

Pre-natal testing will tell you if the baby has CMT X.

With CMT and genetics, it is not a good idea to " assume " anything.

Remember, even members of the same family (and therefore with the

same type of CMT) can be affected differently in their symptoms and

degrees of severity.

You might want to enlist the services of a genetic counselor to help

you understand X linked CMT.

~ Gretchen

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