Hereditary Neuropathy

[Guest guest]

Gretchen,

After reading this post, I realize you have described me perfectly, except I

have never been given an " official " diagnosis. I was mistakenly diagnosed with

MS for about three years before Dr. Jody Corey-Bloom, here in San Diego,

adamantly said no way did I have MS. Those were my sentiments exactly, even

though my prior neurologist never listened to me.

I was about 43 at the time when I developed a drop foot and extreme fatigue

after exercising. Up until that point I was an avid tennis player and I guess I

ignored some peculiar things that were happening to me.

To make a long story short, Dr. Bloom repeated all of the prior tests except a

muscle biopsy which I totally refused. Once was enough for me when it came to

that test. My EMG results were identical to yours and they noted the lack of

reflexes.

At that time only a few types of CMT could be tested, and

even though none came back positive for me, she said that I most likely had CMT

type 2.

I have extremely high arches, much atrophy in the leg and thighs

and a severe drop foot. She was amazed that I could walk in flip-flops!

Like you, however, I just kept on exercising, improved my diet, and got on with

my life. I was ecstatic that I did not have MS, even though she told me CMT

was not a walk in the park.

I haven't been back to her in three or four years because there is nothing she

can do as far as the CMT goes. I feel I am progressing because shoes are very

limiting to me. Two years ago I was able to wear a two inch heel (which I

certainly don't miss!) but now I can only wear a few shoes, mainly New

Balances.

CMT is a " hidden " disease for me. There are days where I feel like just

walking down my driveway is a chore, but yet everyone says I look great and

maybe I don't have CMT after all! Now that is so irritating because they have

no idea how I feel. It's a hard disease to cope with because I never know when

the symptoms are going to strike.

My drop foot is permanent but my energy levels fluctuate. Nothing is consistent

and whenever something " weird " happens, I have to wonder if it is the CMT or

something else. I am also about to enter menopause so you know the quirky

symptoms that will come with that.

Do you ever wonder if you really have CMT? I am certainly not doubting you but

I was just wondering if you ever think like that. Nobody in my family has it.

Looking back when I was in my early teens I danced (ballet) extensively and when

it came time for me to go " on pointe " I never could on my left foot. They said

I was strong enough but we could never figure out why the left

leg was not cooperating. Now it makes sense, since my left leg is

definitely the weakest. I cannot walk on the toes or balls of my feet.

Anyway, your posting inspired me to just move on and be thankful it is not

worse. I do worry if my kids will get it (even though they are both in their

20's and show no signs, and of course, future grandkids). I guess that is why I

would like to know for sure if it is CMT.

I love this website and your work is greatly appreciated by many.

Karon Edleson

[Guest guest]

in Wisconsin,

There are many types of hereditary neuropathy, CMT (HMSN) is but one.

And because CMT is a `syndrome', there is a great span of how it

affects each one of us, due to our unique genetic coding. I don't

have drop foot or poor reflexes. Last summer my doc tested my

reflexes again, and I had them big time (this is after a lifetime of

NO reflexes- go figure!) And my EMG/NCV results are all normal.

My " CMT " diagnosis was made years before I had an EMG/NCV and was

predominantly based on my `rolling' gait.

I've also heard that my case is so `fascinating' – to the point I run

out of the doc's office. I'm no more fascinating than an uneducated

doc, the way I see it. I too have had docs tell me I was the `only

one' or `I only have one other patient…' - that too made me run and

not return to the doc, but find one with knowledge.

Be cautious about the use of steroids. It is possible that with some

physical therapy, there could be help for your arm tingling and

achiness. Perhaps a water/aquatics exercise program might be an idea.

I do this almost daily, the benefits have been immesurable. The

experience is always positive and helps each part of me in more ways

that I know. I have developed some great muscle.

My EMG results were noted as `entirely' normal, with some

reinnervation. (Nerves spontaneous `rewire' themselves)

You might try some Vitamin C and E and other supplements

members mention. I've taken E for 10 years and swear it has been

extremely beneficial for both nerves and muscles. I also started

taking a B complex this past spring which has been beneficial too.

I too am not in the kind of pain others post about. CMT (HMSN) is so

idiosyncratic, not all of us have the exact same symptoms or degree

of sydrome. I also now do not have the balance problems I once had,

or the spascity or the falls.

Seems a bit callous of your neurologist to just say `deal with it'

and let is progress. If I heard that, he would have been fired.

The use of supplements, vitamins, careful attention to diet, exercise

and nutrition, adequate rest, can go along way, as they do with me.

I have not had that `dire' progression that supposedly `happens'.

Since you've read the past posts, you know I was diagnosed as a

child, and I'm 54 now. , that's 44 years of no dire progression.

Are you exercising or working with a physical therapist?

Fascinating case? I heard that several times myself – mostly from

docs at UCLA. I don't need to be a `specimen', I am not a lab rat. I

stopped going to UCLA and found a knowledgeable doc in private

practice.

More recently, the last neurologist I saw was in 2001 – and that was

for an opinion on an un-related CMT matter. What I do on a daily

basis and how I care for myself is up to me. And what I do works well.

Link to other `hereditary neuropathies' FYI

http://www.neuro.wustl.edu/neuromuscular/time/hsn.htm

~ Gretchen

[Guest guest]

Hi .

My symptoms also started in my arms and hands first. My legs and feet seem to be

more affected than my arms and hands now though. I have some form of CMT Type 2

that hasn't been named yet as there are so few of us with this DNA test result.

Yes, basically you have to just deal with it with the current treatments.

Wade