Type 2

[Guest guest]

Tim,

Thanks for your very positive feedback about . Type 2 affects about 15% of

the entire CMT population (with another 15% affected by Type X, and the majority

affected are one of the Types of Type 1). So research had to start somewhere.

And it did with Type 1 because of numbers. (= funding $)

OK, moving on, there are many mutations that cause one of the many known types

of CMT 2. Right now there is Type 2 A through L. Also, there have been 2

mutations showing up that cause Type 2A. (genes are not always EXACT!) A few

years back we learned that genes are jumping chromosomes, muddying the waters

even more!

The first step is sorting out the genetics and causes; which research is

on-going. It wasn't that long ago that Type 1 was at this stage. And that's just

for Dominant CMT 2. Remember, there's also Recessive CMT 2. With different genes

and causes, all this takes a great deal of time and funding. And yet, just last

week the Yale research came out solving a mystery of 34 years.

But, with Type 2E for example, not only is there a DNA blood test, but

Pre-Implantation Genetic Diagnosis is available. Some Type 2's are farther ahead

than others. We also just heard that the Type 2's are being considered as

" laminopathies " ; more is revealed constantly. Once the genetics are known and

fully established, treatment therapies can begin research.

If you're interested, go to http://geneclinics.org, then click on GeneTests.

Type in CMT and it will show you the different stages of work on Types 1 and 2.

So, do not despair. Researchers are hard at work! Have hope!

Gretchen/ Founder

[Guest guest]

Hello,

I've sensoneural hearingloss. CMT 2 is in my family.

My father and aunt have hearingloss too.(have diagnosed with CMT 2)Also we have

earringing, dizzyness, very bad balance. (for years they think it's CMT 2 with

meniere disease, but now they find out that my hearingloss is sensoneural they

think it could be a part of some CMT 2, but this is very unusual).

They can't diagnose me yet because the EMG is normal. They are looking for DNA,

but it is not sure they find out it. They think that I have it,(also have

scoliosis from childhood, bad walking, nystagmus, RLS, tingling of my left side

of my life, very bad balance), but they cannot diagnose yet. My doctor has put

my case on a database, so when there are more people they will look after it of

it is a part of CMT.

Greetings

Mieke from the Netherlands