CMT 2A

[Guest guest]

In a message dated 12/6/2006 4:29:22 P.M. Pacific Standard Time,

slumpville@... writes:

Yay! I tested positive for CMT2A. Does it sound weird to be excited? I

am just glad I finally know exactly what type of CMT I have.

It is a relief to finally know what it is.

Congratulations in a funny way

[Guest guest]

Yay! I tested positive for CMT2A. Does it sound weird to be excited? I

am just glad I finally know exactly what type of CMT I have.

[Guest guest]

No! I do not think it is weird that you are excited to having been finally

diagnosed. I wish I knew for sure but infortunately just have to believe the

neurologist.

Karon

[Guest guest]

Carmella,

There are 2 types of CMT 2A: 2A1 and 2A2. There are also some Type 2

axonal P O mutations, in addition to other MPZ mutations You may find

this link helpful

http://www.neuro.wustl.edu/neuromuscular/time/hmsn.html#2a2

Also, CMT 2A has been mapped to a gene that is required for

mitochondrial division.

I'm sure that your neurologist and a genetic counselor can explain all

the mutations for you.

~ Gretchen

[Guest guest]

Wow, that's a very interesting and informative site. I would keep

reading and clicking link after link for hours on end. That was the

first I've heard of 2A1 and 2A2; I didn't know there was more than

one form of CMT2A. It looks as if I have specifically 2A2 then, as

my affected gene is MFN2 (Trp740Ser). I just got the results from

my DNA testing last week, even though I had my first symptoms at

around age 14, and have known for at least 3 years that it was CMT.

~

Carmella,

There are 2 types of CMT 2A: 2A1 and 2A2. There are also some Type

2 axonal P O mutations, in addition to other MPZ mutations You may

find this link helpful

http://www.neuro.wustl.edu/neuromuscular/time/hmsn.html#2a2

Also, CMT 2A has been mapped to a gene that is required for

mitochondrial division.

I'm sure that your neurologist and a genetic counselor can explain

all the mutations for you.

~ Gretchen