Re: Screening - Moggy

[Guest guest]

<< Does anyone have CMT2 and if so, is this distinguishable symptomatically

from CMT1 which I understand is more common and testable by DNA. >>

I'll give you my 2 cents worth.

There are no easy or definitive answers to the first part of that. I have

known of people who were diagnosed with type 2 at a very young age - before

kindergarten age - and I know of others who were in their 70s or 80s before

they were affected enough to seek a diagnosis. And the rest are every age

between. I was in my 50s. Type 2 is often diagnosed later, (older), but not

always.

The symptoms may be the same, even though some books say otherwise. Both

start with the feet and later affect the hands, although not quite as often

with type 2 according to SOME sources. Both may have very high arches (most

common) or low arches. Both involve fatigue. Both may include numbness or

nerve pain.

Part 2 of your question is easy. The DNA tests can NOT detect type 2 at this t

ime. There is no DNA test for type 2 yet. Type 2 is found by EMG, reflex

tests, family history, and so forth. Type 1 is said to be more common, and it

may be, or it could be that it is more often detected. If type 2 manifests

itself later it life it may be passed off as arthritis, aging, laziness, post

polio, and so forth. Until a child is born who has profound symptoms at a

young age it may not be diagnosed in a family at all. AFTER the child is

diagnosed many adult members in the family will understand why they have

funny feet, or walk funny, or have always been clumsy, or weaker than other

people. In other words, there are countless people in the world who have CMT,

especially type 2, who have never been diagnosed. Therefore they are not

included in the statistics.

Some medical people do not know how to read the EMG results, so if the

outside of the nerve is intact they assume and say there is no CMT. BUT if it

is type 2 it is the INSIDE or core of the nerve that is degenerating, NOT the

outside. That looks different on an EMG, but the technician needs to know

that. Some don't, so they claim there is no CMT.

I hope this helps. Keep asking questions till it's clear to you.

Kat/Pixi