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Re: Testing for CMT 1A

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To the Brown Family,

Since you already know the type and subtype of CMT in the family, there's no

need for another genetic test. The neurologist may want to do an EMG/NCV tests

(needles and shocks - yes, hurts!) so put that off, or if it absolutely has to

be done, make sure she is sedated. Most likely the neuro will just observe her

walking and do some simple manual tests like for reflexes, hand/eye

coordination, etc.

It sounds like she is a toe walker - I am also - by nature. The neurologist can

refer you to a pediatric orthotist who may be able to make in-shoe orthotics

(hidden in shoes) that correct the foot strike to heel then toe when walking.

Gretchen

Gretchen

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Hopefully the doctor can tell if your daughter has CMT just by family history

and an exam. I have managed to avoid all painful testing on my CMT children.

Lucky for us our doctor was familiar with CMT and he never had to send my CMT

kids in for testing.

The usual test is an EMG. Its pretty much mid evil torture. Of course they have

the blood test now as well.

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Thanks

From: gfijig <gfijig@...>

Subject: Re: Testing for CMT 1A

Date: Thursday, June 10, 2010, 8:04 PM

 

To the Brown Family,

Since you already know the type and subtype of CMT in the family, there's no

need for another genetic test. The neurologist may want to do an EMG/NCV tests

(needles and shocks - yes, hurts!) so put that off, or if it absolutely has to

be done, make sure she is sedated. Most likely the neuro will just observe her

walking and do some simple manual tests like for reflexes, hand/eye

coordination, etc.

It sounds like she is a toe walker - I am also - by nature. The neurologist can

refer you to a pediatric orthotist who may be able to make in-shoe orthotics

(hidden in shoes) that correct the foot strike to heel then toe when walking.

Gretchen

Gretchen

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