Re: blood test/DNA diagnosis

January 25, 2006

,

My husband at 32 was dx'd solely from EMG and symtoms. About 9 mos

later we had a son. Our son was diagnosed at age 3 with a blood

test.

The doctor said that the blood test for CMT1A was reliable for

younger individuals while the 'muscle enzymes are actively affected

and muscle damage is occuring', as opposed to being not definitive

on an adult like my husband who had symptoms at age 12 yrs.

The doctor explained that by age 32, the muscle wasting that results

in the markers of muscle enzymes found in the blood test were no

longer elevated enough to be definitive. This is what we understand

about blood tests as of about 1996....maybe they have improved since

then?

in IN

January 26, 2006

I don't know the medical side but I can tell you my experience. I have CMT1A

which was diagnosed by a blood test (called a fish test) when I was 35. That

was in 1997 when I was pregnant and my husband and I were wondering about the

genetics and likelihood of our child having CMT.

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