CMT 1A may worsen with passage from parent to child - from MDA's ANN Report

[Guest guest]

http://www.mda.org/research/080428aan_meeting_report.html

PERIPHERAL NERVE DISEASES

Charcot-Marie-Tooth Disease (CMT)

CMT1A may worsen with passage from parent to child

An Israeli group reported that type 1A CMT, which results from a

mutation on chromosome 17 that causes an excess of the PMP22 protein,

appears to worsen as it's passed from parent to child. In 21 out of 23

parent-child pairs and in 14 out of 16 families studied, there was an

earlier age of symptom onset in the children than in their parents, and

the average severity in the younger generation was slightly higher than

in the parental generation. The researchers said they don't know what

the underlying mechanism of this phenomenon might be.

[Guest guest]

It would be interesting to learn how many generations in a family were studied.

Also how they accounted for environmental conditions affecting symptoms.

[Guest guest]

I've thought about this because my husband seems worse than his

mom.. .The only thing I wonder is if they took into account that once

CMT is well documented in a family you often can see signs earlier then

when people are unaware it might be an issue. like my MIL says Danny

didn't walk until he was almost 2 and he tripped, ran funny, but he

wasn't diagnosed until he was 14. My daughter walked at 18 months and

ran funny and we had her diagnosed at age 3. Now that you can get the

dna test I'm sure people will keep finding out much earlier than they

did in previous generations.