diagnosing CMT

[Guest guest]

Since I've been reading this board, I have read MANY postings about

diagnosing CMT and what type a person might have. Looking back, I

have been one lucky guy. After complaining to my regular M.D. that

something was wrong with my hands, he sent me to a hand surgeon. This

fellow asked a bunch of questions and immediately sent me to a

certain neurologist here on Long Island, NY. I believe that this

wonderful lady knew EXACTLY what I had as soon as we started talking,

although she didn't say at that time. (I had never even heard the

term CMT before). She asked every question that I have since learned

pertains to CMT, did the shock tests (the pits! no more of that for

me!) and wasted no time in ordering the DNA analysis. Of course the

results were right on and yep I do have it, type 1. No dilly-

dallying, no endless testing, no experiments.....she evaluated the

syptoms (classic CMT symptoms, by the way), did the necessary

history, did the tests to prove her thoughts and.....POW! The DNA

showed the exact gene " screw-up " to confirm her diagnosis. This whole

process, start to finish took about 5 weeks.

Since that time I have learned everything I can about CMT, mainly

through the internet and sites like this one, thanks to Gretchen's

tireless efforts! My thoughts are that this CMT thing, while being a

MAJOR pain in the ***, is not going to be any worse than I permit it

to be!!!!! Hanging in there (and hanging on to the cane)BobD

> ka,

>

> I know you are writing to Gretchen about help in determining what

> type of CMT you have, but I think the only way to determine that is

> through thorough physical examination and genetic blood testing. A

> neurologist might be able to make a diagnosis of sorts, but the

> definitive answer comes from genetic testing.

>

> Finding an MDA clinic in your area (even if it means driving a ways)

> is your best bet, in my opinion. I messed around with poorly

informed

> MDs (and taught them as much as I knew about CMT), but didn't get

> treatment that was meaningful until I went to an MDA clinic. If your

> insurance doesn't cover the Athena CMT bloodtest, most likely MDA

> will. You just have to join, and at the MDA clinic I went to, a

> representative from the MDA came into the examining room and signed

> me up!

>

> Maybe the University of Minnesota has an exceptional clinic, but I

> have never been treated so well in regards to my CMT. Right now I

am

> in contact with the genetic counselors from the clinic because the

> genetic mutation my brother and I have has never before been

> identified. They want to study our family. So you see, there are fun

> and interesting reasons to get tested.

>

> One more thing, getting tested by a family doc without the aid of a

> genetic counselor might lead to the wrong test being ordered, and

> then you still don't know what kind of CMT you have. This happened

> to my sister. You need someone knowledgable in CMT to have the right

> tests ordered. They are very specific tests, so the right ones have

> to be ordered to identify your CMT type.

>

> I wrote a lot here, but I know my sister went through a lot of very

> unpleasant experiences with physicians who were not knowledgable in

> CMT. She was put down, frustrated, and ignored. I say go to the

> experts to avoid that pain... if you can!

>

> Sincerely,

> Danita

> --- Danita, thank you for your sharing. As most of us know, a

EMG/NCV

> test along with preliminary manual testing is usually the start of

the

> diagnostic process. In addition, I had several other tests - nerve

> biopsy, spinal tap, others that I can't recall. However, I have not

> had the DNA test. It can be possibly detrimental to try and diagnose

> oneself from Internet information and I recommend to everyone to see

> a neurologist - whether at MDA, Shriners (for children), ES, or in

> private practice. ~ Gretchen

[Guest guest]

Hi Danita, I have had the NVC test and I also have had the DNA. I have the

numbers on the NVC which confirmed that my nerves were not reacting, the DNA

said negative. but my doc says he still believes that is the correct dx. He

also did the pinprick test and the vibrating rod test. Which ever cmt I

have cannot be detectd with the dna test so I am still in the dark, but

which ever type I have is slowing to the nerves.

ka

[Guest guest]

Gretchen I know that there is no way you can tell me which type I have but

you understand this alot more than me. Here are some of my numbers from my

nerve test. Left median sensory distal latency of 4.5 milliseconds, left

ulnar sensory distal latency of 4.6 and etc. My highest one was 5.0

milliseconds. It says that it is significantly prolonged. So what are the

types of cmt that have slowed nvc's but do not show up on the dna? If you

know that would be helpful.

ka

[Guest guest]

ka,

I know you are writing to Gretchen about help in determining what

type of CMT you have, but I think the only way to determine that is

through thorough physical examination and genetic blood testing. A

neurologist might be able to make a diagnosis of sorts, but the

definitive answer comes from genetic testing.

Finding an MDA clinic in your area (even if it means driving a ways)

is your best bet, in my opinion. I messed around with poorly informed

MDs (and taught them as much as I knew about CMT), but didn't get

treatment that was meaningful until I went to an MDA clinic. If your

insurance doesn't cover the Athena CMT bloodtest, most likely MDA

will. You just have to join, and at the MDA clinic I went to, a

representative from the MDA came into the examining room and signed

me up!

Maybe the University of Minnesota has an exceptional clinic, but I

have never been treated so well in regards to my CMT. Right now I am

in contact with the genetic counselors from the clinic because the

genetic mutation my brother and I have has never before been

identified. They want to study our family. So you see, there are fun

and interesting reasons to get tested.

One more thing, getting tested by a family doc without the aid of a

genetic counselor might lead to the wrong test being ordered, and

then you still don't know what kind of CMT you have. This happened

to my sister. You need someone knowledgable in CMT to have the right

tests ordered. They are very specific tests, so the right ones have

to be ordered to identify your CMT type.

I wrote a lot here, but I know my sister went through a lot of very

unpleasant experiences with physicians who were not knowledgable in

CMT. She was put down, frustrated, and ignored. I say go to the

experts to avoid that pain... if you can!

Sincerely,

Danita

--- Danita, thank you for your sharing. As most of us know, a EMG/NCV

test along with preliminary manual testing is usually the start of the

diagnostic process. In addition, I had several other tests - nerve

biopsy, spinal tap, others that I can't recall. However, I have not

had the DNA test. It can be possibly detrimental to try and diagnose

oneself from Internet information and I recommend to everyone to see

a neurologist - whether at MDA, Shriners (for children), ES, or in

private practice. ~ Gretchen

[Guest guest]

Thanks Gretchen. I get pretty focused on MDA since that is what I

know. I'm glad there are other resources out their.

Regarding EMGs - right! That was the first test for me. Initially I

couldn't get my family doc to order a test on anything but my left

arm, but the techs doing the EMG had some extra time and tested all

my limbs. If they hadn't been knowledgable and willing to take the

time to do a meaningful EMG for CMT diagnosis, I'm sure I would have

had to go through the EMG again. I suppose my doc could've gotten

angry when her orders weren't followed, but since the EMG came back

very abnormal, there wasn't much she could complain about!

My sister also had the spinal tap and several other invasive tests.

My brother went through 4 (yes, four) EMGs, which I think is

ridiculous. All were abnormal .... what could they possibly hope to

find with repeat EMGs?

Anyway, with the knowledge our family now has about CMT, I am told

that my children will get to skip the EMG and other less-pleasant

tests, and go straight to the blood test if symptoms appear. We are

making those decisions now for the kids, based on their difficulties.

It doesn't look like a cure is in sight, but it sure seems that the

knowledge and options are improving for CMTers. I feel hopeful!

Danita

[Guest guest]

ka,

My brother and sister were both correctly diagnosed with CMT

without a blood test. They had all the tests you had... some of

them several times, and because of their 'leg work' (no pun

intended), I skipped a lot. With my EMG and their EMGs and

other test results in hand, I went to the MDA clinic and got a

blood test the same day. I was lucky, and I think my sibs did

all the work. The genetic test is certainly not needed, and I

realize I was just lucky to be the one who got the right

genetic test. Also lucky that I had a type of CMT that could be

detected with a blood test

Danita