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<< I've not had any genetic testing done to date and I'm now 42. >>

I don't know if you are aware that genetic testing is only for types 1A, 1X,

and HNPP. There are perhaps 20 types of CMT, and most will not show up with

genetic testing.

Genetic testing is diagnostic, but if you aren't one of the right types

(above) it won't help you with diagnosing. It will only tell you what you

DON'T have.

There is indeed a lot of confusion for some folks who are trying to get a

firm diagnosis, such as Barbara R, for her daughter. Good luck, Barbara!!!!

Regards,

Kat

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I was dx'd at age 7- by then I was already walking om outssides of feet- I

found it interesting about you questioning sensation loss...I have never lost

any of my sensation. I also dont have asny pain associated with my cmt. I

will be interested in hearing what this dr says. I am 36 now so when I was

dx'd it was by process of elimination. I am considered a mutant- no one in my

family as far back as we could go show any symptoms. Please keep me informed

Elena

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I was dx'd at age 7- by then I was already walking om outssides of feet- I

found it interesting about you questioning sensation loss...I have never lost

any of my sensation. I also dont have asny pain associated with my cmt. I

will be interested in hearing what this dr says. I am 36 now so when I was

dx'd it was by process of elimination. I am considered a mutant- no one in my

family as far back as we could go show any symptoms. Please keep me informed

Elena

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I was dx'd at age 7- by then I was already walking om outssides of feet- I

found it interesting about you questioning sensation loss...I have never lost

any of my sensation. I also dont have asny pain associated with my cmt. I

will be interested in hearing what this dr says. I am 36 now so when I was

dx'd it was by process of elimination. I am considered a mutant- no one in my

family as far back as we could go show any symptoms. Please keep me informed

Elena

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Hello from South Carolina:

Barbara, I found your message regarding your daughter most interesting!

I was diagnosed with CMT while in Physical Therapy school in 1980. It

was based on an EMG and NCV. I've not had any genetic testing done to

date and I'm now 42. I still have 90-95% of my sensation intact, as

well. I can walk without any assistive devices, but I do use orthortics

inside my shoes to help with ankle instability and peroneal weakness. My

hands are also fairly weak and atrophied. I have two daughters, one has

inherited my CMT? and one seemingly has not. Since I am very new to this

discussion group, I do not know what surgery your daughter is having

done. Everyone seems to be talking about stress and how it progresses

your symptoms. I feel that the times my condition has worsened has been

related to physical trauma, surgical procedures on my toes (minor) and

pyschcological stressors. I will most interested to hear the outcome of

future test done on your daughter. Good luck and God Bless.

Barbara Ranagan wrote:

>

>

>

> Hi all.

>

> First, thanks so much for your helpful suggestions about stair-lifts

> and other issues related to my daughter's upcoming surgery. I am

> sorry I have not responded sooner. I am feeling very overwhelmed at

> the moment. I feel like I am going to short-circuit. I don't even

> have CMT -- only my daughter. My only daughter.

>

> Recently, Dr. Crawford at s Hopkins questioned her CMT2

> diagnosis. He did not make the original diagnosis (performed by

> at GW in DC). But he, like others think her presentation is

> unusual. In part because she has presented so early, and in part

> because her sensation is intact. He says that sensation usually goes

> before motor ability. He wants to do another EMG to see if she has

> Spinal Muscular Atrophy (possibly the distal variety). He is also

> kicking around the idea that she may have a non-progressive

> congenital deformity affecting the peroneal nerves or muscles (which

> would be good news). He is of the belief that too many conditions

> may have been sucked into the CMT category which may account for some

> of the differences in symptoms, progression, spontaneous mutation

> within a family, etc. Has anyone else heard this? Has anyone else

> ever received varying diagnoses?

>

> Welcome to Chen (Are you from China or are you Chinese-American? I

> lived in Wuhan for a while.) And, welcome to . How old is

> ? What kind of CMT do you have and why does your daughter

> have a more rare form? My daughter, Alice (age 8), may have some

> learning issues (or she may simply be distracted by the fact that she

> has had to come to terms over this last year with her CMT diagnosis

> and the prospect of surgery -- for a kid who needs to be held down by

> three adults just to get an innoculation).

>

> Rose-Marie, your English is beautiful and your insights a gift. I

> miss you when you don't write.

>

> I read Ruth's discussion of the interplay between insurance and MDA

> benefits and thier coverage of the cost of AFOs. I thought it a good

> description of the process.

>

> Regards to all

> Barbara

>

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>

>

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Hi Barbara,

Oh yes! I had tons of other diagnoses! Everything from polio (even tho I

WAS innoculated) to MS, MD, and Frederich's Ataxia. The last one I was

diagnosed with at about age 26 or 27 and I didn't know much about it. It

is also one affecting peripherial nerves, although affects differently

than CMT. So I had tons of tests, bla bla, etc. and then the doc (at

UCLA) said " you DO have Frederich's Ataxia " and you will be in a

wheelchair by the time you are 30! Well, I kind of freaked out with

that, left, and never saw another neurologist until I was 35, who then

thought I had 's disease. Long story short, my original disease of

CMT was then given back to me about 2 years later.

Gretchen

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