CMT 1A Duplications and Families

[Guest guest]

and Mom,

" Duplications " has nothing to do with activity level in CMT. CMT 1A

genetics prove to us that it is a " duplication of genetic material "

on Chromosome 17.

The different ways children, even siblings, and adults are affected

has everything to do with HOW CMT is manifesting itself in the

INDIVIDUAL. I know this is wierd and hard to grasp and makes CMT

appear even whackier to understand.

In other words, EVERYONE with the " CMT syndrome " experiences

different degrees of symtoms, progression rates, etc. Even

kids/adults in the same family can have different symptoms, etc., it

has nothing to do with " duplications " .

One family member may have more hand/arm symptoms, where another may

have only feet problems, where another may be affected in the phrenic

nerve, or be more midly affected, or combinations of those and other

symptoms, or maybe in some cases, not show symptoms until later in

life where a sibling may have received a childhood diagnosis.

A few of the symptoms we all seem to share are fatigue, balance

problems, difficulties walking long distances, etc.

I just wanted to clarify this. And by no means am I an expert, this

is just from my reading and studying.

~ Gretchen