CMT Diagnosis

[Guest guest]

I wanted to extend my thanks to those who responded to my

introduction and to apologize where I did not send a personal reply.

Between my insomnia and the recovery from my surgery I fatigue easily.

I have been trying to schedule a follow-up appointment with my

Neurologist, at which time he is supposed to do another Nerve

Conduction Test (EMG?). The previous Neurologist had also ordered a

single genetic test for CMT (which came back negative) but my current

Neurologist suggests that I may still have a less common and more

slowly progressing form of CMT (the test was supposedly only for the

most common form).

I have learned a lot from the postings in this group but I'm still

not sure where to go from here. Not knowing for sure is driving me

nuts (it is a short drive). I belong to an HMO (Kaiser) and they are

not likely to order any more elaborate or expensive tests. Based on

your experiences, what can I suggest to my Neurologist that would

help determine whether I do in fact have CMT (and if so what type)?

I have a enough of the CMT symptoms I have been reading about to

understand why the doctor has raised this, yet I am 52 years old and

my symptoms are still nowhere near as severe as what I see described

by other members in this group. So I'm confused and would be grateful

for any suggestions.

[Guest guest]

,

It is possible your former neurologist only had you DNA tested for

CMT 1A (which accounts for something like 70% of the CMT types). So,

if that came back negative, then you haven't got 1A. Your new

neurologist is right on track - while having another EMG/NCV is

nothing any of us relish - it CAN differentiate between Type 1

(demylenating CMT and Type 2 neuronal. It will also show the nerve

speed (there's a range) and can show any formations in the nerves as

well as reinnervation.

I am familiar with Kaiser, somewhat. Ask your new neurologist to

review the FIRST EMG/NCV results with you. The EMG/NCV isn't

elaborate or expensive, but K may question why you are having it

again - which might be a good question to ask your new doctor anyway.

You didn't say who did your first EMG/NCV - a doctor or a tech. In my

experience, the tech knew nothing and the second one I had (this one

as an adult) was done by a doctor specializing in these tests -

meaning he knew what he was doing, looking for, and even could tell

me as it was happening what units were firing and when. Heck, I knew

this just from the current/shock etc!

I am 52 myself; originally diagnosed when I was 10 by an orthopedist

as I walked up and down the halls of his office. I have not had the

DNA test done. Instead, as a result of my adult EMG/NCV I found out

my results - all 'normal' with all units firing, but polyphasic, and

showing reinnervation. In his written report he wrote " she most

likely has a neuronal form of CMT " (meaning Type 2).

I had many problems with CMT in my teens and 20's. Spasms, spacisty,

tremors, major fatigue, alot of falling and rotten balance. Something

happened in my 30's to where I seemed better (I think stopping

drinking when I was 27 helped for starters), but something in my body

just seemed to get better. I started taking aerobics - that had some

effect on my balance for the better and from there I did Yoga, Ski

Conditioning (not a skier, but the exercises in class were good) I

started walking long distances for exercise (wore out one dog that

way) I slowly started changing my diet, etc. What I am trying to say

is that today, at age 52, I feel I sure am in better shape all over

than I was at 22 CMT wise. The last neurologist I saw was 3 years ago

and after examining me and hearing my CMT life, he just kind of shook

his head and said " interesting, you don't seem to be progressing " .

We are all different in how CMT manifests itself in us, due to our

own unique special set of genetics. Many people are severely

affected, many are midly affected to the point their best friends

don't realize they have CMT, and many people can still be

asymptomatic (showing no symptoms).

I hope this makes some sense. As for pinning down your exact CMT type

of 2 (if the EMG/NCV indicates this) that may take some time - only a

few of the Type 2's have a DNA test for them.

So, maybe before enduring another EMG/NCV, you could ask your new

doctor some questions about the first report and go from there.

~ Gretchen

[Guest guest]

Gretchen:

Thank you ever so much for the information.

I believe that the DNA test was for CMT 1A - the new Neurologist

indicated that I had been tested for the " most common type " of CMT.

As for the EMG/NCV, it was conducted by a doctor, but one from

Physical Medicine rather than Neurology. He indicated at the time

that I was showing up to 50% impeded (?) nerve current and he wanted

me to get an orthotic device to prevent my foot from causing me to

fall.

The first Neurologist was completely blase about the EMG results,

but also did not communicate why...so I fired him. The second

Neurologist told me that he wanted to do the EMG himself. He

indicated that there were variables that the Phys. Med. doctor did

not take into account. For example, my feet are unusually cold and

he would want to warm them to remove this as a potential variable on

the test.

I am very sensitive to doctors treating me as the first Neurologist

did, because of the reactions I have gotten over the years to the

chronic fatigue/fibromyalgia diagnosis. Fatigue is a serious

problem for me and although I know that exercise might help I find

that I tend to overdo exercise (thinking that I am being

conservative) and when I do this the result is that I am sick for

days afterwards.

By the way, I was also being treated by an orthopedist when I was 10

(and for the next several years). Unfortunately, he was so focused

on treating my Osgood-Schlatter's (knees) that he completely ignored

my scoliosis as it was forming.

I know that this may sound strange, but the possibility of a CMT

diagnosis actually made me feel hopeful because it would explain a

lot of my experiences going back to when I was young (extreme lack

of coordination, the scoliosis and wanting to die when they forced

me to run track in gym, for example) and it would also give me

something definitive that I could shove in the face of some of the

specialists who respond to chronic fatigue/fibromyalgia with a

complete disregard and lack of respect.

Ken