Hello everyone.

I am new to the site and am very happy to have found it!

I have recently been diagnosed with Charot Marie Tooth Syndrome. This is a genetic neuropathy.

I will be meeting with my neurologist in two weeks to discuss this diagnosis.

If anyone out there has CMT, do you have any suggestions regarding what types of questions I should ask, or give me some advice on your experiences? How are you dealing with the symptoms? I would be grateful for the help.

Di

Hi,

Questions for you. I have CMT. How were you diagnosed? What type of CMT do you have? Is there a family history of it? Are you seeing a neurologist who knows CMT very well? What are your symptoms?

There is a medical alert list which you could give to your doctor. Click on:

http://www.charcot-marie-tooth.org/med_alert.php

There are a number of drugs we should not take and some are very toxic.

Here is some more information concerning CMT if you haven't already read it. Click on:http://www.charcot-marie-tooth.org/a...t/symptoms.php

You can also review the other information at the bottom of that page.

CMT is the most common inherited neurological disorder. Symptoms of CMT vary greatly even within the same family. Symptoms can become evident when you are young, old, or in-between or they might not be that evident at all.

CMT is under the umbrella, as they say, of the MDA along with 40 others. CMT affects the Peripheral Nervous System; outside the Central Nervous System. It is inherited. We are born with healthy muscles. There are spontaneous mutations but they are rare. Usually, if you go back far enough you will find that someone had it knowingly or unknowingly. It has been misdiganosed as Polio, Frederick's Ataxia, MS, etc.

Muscular Dystrophy is in the Central Nervous System (CNS). A person with MD is born with diseased muscles.

Multiple Sclerosis is an autoimmune disease and is in the Central Nervous System.

CMT is progressive no matter what you do. Exercise within moderation (your body will tell you), swimming is good, eat healthy, try not to be overweight, and stay away from as much stress as you can. Click on:

http://www.charcot-marie-tooth.org/a.../treatment.php

Towards the bottom it mentions stress.

There are many types and sub types of CMT. They can now do DNA blood testing for 22 +. There are 50 types identified so far with no end in site.

Do you wear AFO's or anything like that? I do not as of yet. I do use a cane when I am outside on unfamiliar ground. Inside, I do not use anything.

I hope I have given you some useful information concerning CMT. Just ask. Thanks for your post.

Diana I glad that kitt was able to give you some information and I hope it helped you with some questions to ask the doctor. It is good to know a little about it, so you can ask questions while at the visit with your doctor.

Glad they were able to find out what is going on and now maybe trying to get it under control. Hope the Best for you.

Trish

Thanks for the info Kitt ... I will read it all prior to my appointment.

First I had a nerve conduction test, and my "number" was 27/28 rather than 50. (???) Then a lumbar puncture (testing for CIDP) which came back clean. We then sent some blood work for DNA testing, and the result was CMT, Type 1A (chromosome # 17) (I have a lot to learn about this ...). I have spoken with family as this is inherited; but, no one seems to be able to connect the dots so far. My grandparents lived in a small village in Italy, so it could very well be that they were never diagnosed (they are now deceased).

My symptoms vary from day to day ... a wonderful surprise to look forward to upon waking (although the nights can be baaaad!) The basics are tingling in feet, legs, arms and hands (one night it even reached my lips). The toes on my left foot are always numb. My left ear always rings, so I sleep on it to muffle the sound. I will have SEVERE muscle cramps from time to time (that's what brought me in for testing). Sometimes it feels like someone is pressing a large coin on the back of my right calf, but it feels like a void. Sometimes sharp shooting pains, sometimes "electrical" type shooters. My shins feel awkward/crampy and I end up stumping around like Frankenstein because I can't use a normal stride (can't use the small stabilizing muscles from foot to lower leg). There was a two week period that I would wake up in the night and would be unable to move. Had to concentrate on moving fingers and toes and then waking the rest of my body up so that I could turn over. The sheets are stronger than I am, and I have to sleep with my feet out in case I have to jump out because of a cramp. I understand the phrase "it feels like I'm wearing a pair of boots filled with worms".

I do not have to use a cane or any other device. I did have an "acute" period in May, and I could hardly walk at all, extremely tired and weak.

Then .... every once in a while, I have a day that is completely symptom free. OH JOY!

I have a lot to learn and plenty of reading to do .... thanks to you all for taking the time to help my out.

I'll be in touch, Di.

Hi,

It is different that you say you have a day that is symptom free. That does not happen. Are the toes on your left foot still numb when you have a day that is "symptom free"? You say you were diagnosed with CMT1A thru DNA blood testing.

The opposite of CMT1A is Hereditary Neuropathy with Liability to Pressure Palsies (HNPP). Here is a site for that if you would like to read it. HNPP is also inherited. It is a deletion rather than a duplication on the same chromosome as CMT1A. Click on:

http://www.hnpp.org/index.htm

You say that your grandparents lived in Italy. Is that your maternal side or paternal side? If one of the grandparents had CMT then your mother, if it's her parent, or your father, if it's his parent, would be where you inherited it from. It would have come on down thru the family. And yes, CMT is inherited.

You do have many symptoms to deal with. Please know that I am not doubting your diagnosis. A "Symptom free" day raises questions. CMT is a complicated syndrome. Thank you for your post.

I thank you so much for the link. I have read it and it is certainly a possibility. I am most interested in the phrase you used; :

"a deletion rather than a duplication on the same chromosome as CMT1A"

This will be a question I can ask my neurologist when I meet with her. We have only had a quick conversation by phone. I can see that I have much to learn, and the information you have provided me will definately help me to prepare for that meeting.

As to your questions, the toes on my left foot are always numb. That never changes, but on a good day I have energy and can walk with a normal stride without all the other symptoms I listed earlier.

Both sets of grandparents were in Italy, in small villages, and all are deceased. I know that my maternal grandmother had problems with her legs; but my information is that they were mainly caused by varicose veins. She walked with a cane beginning in her sixties, and had problems walking; but, no one can verify that it was for any other reason than circulatory problems and/or age.

I am most anxious to get a proper diagnosis so that I can deal with whatever it is head on. While we have to depend on doctors to a great degree, I am a firm believer in taking as much control as possible over my health and welfare. That is why I was so excited to find this site. There is nothing more valuable than learning from those who have had the same or similar experiences.

Once again, I thank you for sharing this new link with me. I'll be posting the outcome of my appointment, hopefully with answers rather than more questions!

Take care, and hope you feel fine!

Di

Hi,

I am very interested in learning what you find out. And yet, the result of DNA blood testing was CMT1A. At any rate, it is puzzling. And the fact that on a good day you can walk with a normal stride, etc.

From what you say about your maternal grandmother, it is certainly possible that she did have CMT and they just chalked it up to varicose veins, etc.

How about your Mom. Does she have any kind of symptoms at all. And then we are back to HNPP which is also inherited. And the toes on your left foot always being numb could be from that too.

At any rate, I'm not a doctor of course, but this all certainly seems puzzling. I hope you can get some good answers. By the way, does this neurologist know CMT very well? That is important. Take care and keep us updated. Thank you.

Hi Diana nice to meet you. Kitt has given you some excellent links and information!

I'm waiting on some genetic tests to come back to confirm my dx of CMT. I too have toes that are numb all the time on my right foot however the numbness in the rest of my foot seems to be intermitant. When the numbness started to subside in my foot it became evident that the muscles had been damaged in that foot/toes during that "attack". I use the term "attack" because my disease seems to flare. I do have constant symptoms but I also have "attacks" of symptoms that clear up.

I can't remember my velocities right now...but my daughter's (11) are 5/17 were her worst recorded numbers.

Hi Diana, Kitt, Lynxgal and Trish,

I have HNPP, and as Kitt says it does tend to be more episodic than CMT1a, but does become blurred together with time. I think though that there is quite a bit of cross over between the two, neurologists like to highlight the differences because that helps them to diagnose. It's only through these forums and others where we can compare and contrast that perhaps we realise that there are just as many similarities as differences.

Diana, you mention your ear ringing, tinnitus, do you have any noticeable deafness in that ear?
I have bilateral hearing loss, tinnitus and episodic vertigo, which has been diagnosed as Meniere's disease some years before my HNPP diagnosis. One ear is much worse than the other. I have doubts about the meniere's diagnosis, only because it is really syndromic, there is no known cause or cure and is a diagnosis by exclusion of other known causes. My hearing loss deviates from typical meniere's which leads me to think that demyelination of the acoustic nerve may be involved. There are ways to test this, but I have never had these tests. I think much could be learnt from testing, but that won't happen unless I can afford to pay for the tests myself.

Hearing loss in CMT1a and HNPP has not often been reported in medical studies, but there are a few studies which indicate that a certain level of prebycusis (early onset age related hearing loss) can occur. This is termed Sensorineural hearing loss, although if demyelination of the acoustic nerve is the cause then it should really be neural hearing loss, a type of auditory neuropathy. However, it might be a mix, as having CMT/HNPP does not exclude us from having other ailments.

There is so much to absorb after diagnosis, it can all get a bit too much. I hope I haven't added to this overload. Kitt has given some great links.

Jon

Edit: HNPP is sometimes referred to as being painless, some palsies maybe, but generally there is often a whole range of neuropathic pain symptoms, pins and needles, electric jolts and stabs, burning sensations etc, mostly in combination with sensory loss. Secondary sprains and strains are also quite common.

Hi Leaf *waving* Thank you for all the info on HNPP. I too suffered from episodic vertigo however my docs have dx it as BPPV.

Thanks for the info on the sensory stuff as well. Gotta love those electric zings