Re: CMT symptoms/signs differing in one family

[Guest guest]

Marti, CMT type 2 may present like this: a first generation with

very late and mild onset and a second generation with typical

symptoms of CMT (see my report of anticipation on the AICMT

website). It is often difficult to say if the mild neuropathy

in the 1st generation is CMT or has another cause. However the

presence of signs in your father and aunt are consistent with a dominant

CMT. Genetic testings are necessary for you first. Now several CMT2 genes

have been identified and you can be tested individually.

Paolo

[Guest guest]

Hi Paolo,

First will you indicate where your report is published?

Second what is the benefit in testing? I have CMT symptoms and it

looks like I'm the first generation. I doubt if I shoudd send my

daughter to do the test.

I'd like to know what is your opinion.

Baruch

----- Original Message -----

From: Paolo Vinci

Sent: Thursday, May 29, 2003 8:49 AM

Subject: Re: CMT symptoms/signs differing in one family

Marti, CMT type 2 may present like this: a first generation with

very late and mild onset and a second generation with typical

symptoms of CMT (see my report of anticipation on the AICMT

website). It is often difficult to say if the mild neuropathy

in the 1st generation is CMT or has another cause. However the

presence of signs in your father and aunt are consistent with a dominant

CMT. Genetic testings are necessary for you first. Now several CMT2 genes

have been identified and you can be tested individually.

Paolo

[Guest guest]

> CMT. Genetic testings are necessary for you first. Now several

CMT2 genes

> have been identified and you can be tested individually.

> Paolo

Thanks Paolo. Very interesting. The strange thing is that

although my father does not have the orthopedic signs of CMT, the

hearing loss that he does have has always been VERY noticeable and

now is serious enough that they're talking about cochlear implants.

Alternately, I have " classic " signs of CMT and no significant hearing

oss (maybe a bit of loss but NOTHING like my father's ever was) but

am still considered " mildly " affected as I am quite active and the

major limits CMT presents are w/ shoes and standing balance. My

parents were 42 (father) and 39 (mother) when I was born, and I've

often wondered if there later age led to some of the health problems

I've had.

I did have genetic testing done in 2000 and at that time all they

could do was tell me it was likely CMT 2 but not which sub-type. I

doubt that my insurance or MDA will pay to have the tests done again

so soon (I know the newer tests can ID sub-types). I am still

reeling from the cost of an MRI a few months back to rule out

tethered spine.

Would my father test positive for CMT with the signs he has? I

was thinking that if he could get the genetic testing (more likely

since he hasn't already had a bunch of related tests done), then this

would inform his descendents of our CMT subtype. Just wondering...

If this is not the case, I may forego more testing until I am at

the point of deciding if I should have children.

Thanks for the information. Peace, - Marti

[Guest guest]

Hello, Baruch and everyone.

> First will you indicate where your report is published?

On Neurology. You can read it on the AICMT website www.aicmt.org/2001.htm

> Second what is the benefit in testing?

So far only for procreation. But also to plan rehabilitation better, because

if you can foresee till where your mutation will cause disease progression

(e.g. triceps surae or quadriceps or else) you can contrast it better.

Paolo