Charcot-Marie-Tooth Disease - CMT

Hi,
I have CMT2, subtype H, I think, which includes breathing problems such as asthma and sleep apnea.

CMT is an inherited neuromusculoskeletal disorder affecting the peripheral nervous system (everywhere except the brain and the spinal cord.) It's a cross between MS and ALS. It's the most difficult neuropathy to diagnose in the world and the MOST COMMON! In my experience, very few GP's and some neurologists have NEVER HEARD OF IT! So, one may have to be a little agressive getting the answers to medical questions about it and his/her health. Usually, long before CMT is diagnosed, other health problems are diagnosed and treated piece-meal. Most of the time, CMT isn't diagnosed until the mid to late 50's because of this. While it is under the umbrella of the Muscular Dystrophy Association, it is NOT muscular dystrophy. That's because it's a peripheral nervous system disease, not a muscle disease, whereby the nerves become impaired and the muscles are not innervated, thereby the muscles atrophy. It progresses. It's not usually fatal unless the diaphraghm muscle atrophies.

I have listed many of the other signs and symptoms of CMT. If anyone here would like to pursue this further, please talk with the general practitioner and ask for a blood test for CMT. It tests for about 27 types of CMT, so there can be a false negative. If it comes back negative, ask the GP for a referral to a neurologist for testing. Since it's a progressive disease, it's best to be diagnosed as early as possible. In my state, I'm one of the educators for the Charcot-Marie-Tooth Association. CMT was named after two Frenchmen and an Englishman who discovered it at virtually the same time in the mid 1860's. The most common type CMT1a affects one in 2,500 persons to one in 100,000 persons, depending on which web site is being searched. Other types of CMT are a little to a lot rarer.

Here is the list of SOME of the KNOWN signs and symptoms. It is not being posted to alarm anyone. Rather, this information is to help find a possible underlying cause for sleep apnea, a COMMON one.


CMT SIGNS AND SYMPTOMS

Tremor disorders and Rousey Levy Disease
Muscle twitching in diverse places (eyes, upper arms, calves)
High arch and/or flat feet
Daily, awful fatigue
Deep itch
Carpal Tunnel Syndrome
Pins and needles
Numbness
Water cysts on fingers
Soreness in neck and upper arms
Scoliosis
Rolling ankles, sprains and strains and broken ankles
Bladder problems
Deafness
Vision problems
Irregular gait
Hammer toes
Bone spurs
Atrophy of muscles, especially in feet and legs (also hands and forearms in later stages)
Frequent falling, losing balance
Concentration difficulties
Restless leg syndrome
Charlie horses, feet and hand cramps
Stress can make it worse
Nerve lesions
Vocal cord paralysis
Slurring of words, speech difficulties
Swallowing difficulties
Venous incompetence (Swelling, redness in feet and hands)
Diaphragm weakness and breathing problems, esp when laying down
Sensitivity to heat, touch, pain
Body pain with unknown origins
Neuropathic pain
Motor skills interfered
High stepping gait
Sleep Apnea
Asthma and COPD
Tiptoe walking in children
Delayed walking in toddlers
Irritable Bowel Syndrome

Hi, while it is really unfortunate that you have such a disease, and while it is very admirable that you have become an expert on it, I am a little curious as to why you have brought it to our attention here in such detail. Is it because there is a small percentage of people with CMT that also have apnea? You are going to scare half the people here on this forum to death, thinking they might also have CMT, but that would be 'reaching' to quite an extent. Having worked for many (neuro) MD's over many years, I can tell you that CMT does come up as a differential diagnosis sometimes, in the odd patient, but in fact they really are few and far between, as well as being unlikely in the end to have CMT. To tell everyone here to ask their doctors to be tested (quite a process!) because they have sleep apnea, is going to put an incredible strain on the system, never mind the patients, the vast majority of whom will certainly not be diagnosed with CMT.

I don't mean to be unappreciative of your efforts, but you might as well tell everyone who has the odd day of slightly higher blood pressure (alone) to have polysomnography as they could be apneic. Possibly you have been so close to CMT for a long time that you see it everywhere, imagine everyone has it, but in reality it is not "common", and is not the "most common" neuropathy in the world - diabetic neuropathy would qualify there. CMT is one of those diseases like lupus that come up in differential diagnoses all the time, but that does not mean that everyone e.g. with apnea of all things, should run out and be tested. If you show many people a long list of symptoms, like you've attached here, most of them will find a couple that seem familiar, and assume they have the disease, but that would be a misconception as most of us, in fact, on any given day, can tick off many passing symptoms in any such list, but that's all they will be - transient, and not anything to be pursued. So many on your list apply to quite a number of other diseases, especially if you try to self diagnose by searching the internet, and you could spend your life tracking every one of a thousand symptoms, driving yourself bananas -not a very good idea at all.

Hi Julie

Given that I have about 7 of the symptoms described, and that I am getting sick and tired of finding more and more things wrong with me I want to thank you for your brilliant post above.

I too appreciate the sentiments of the original poster Fyfer, but your post was absolutely essential to keep things in perspective.

So, I will not worry about whether I have CMT or not, but just get on with working with what I know I do have.

Thank you

cheers

Mars

I always thought this was called Marie-Charcot Tooth disease? But hey thats me. I have never been officially dx'd with this but -
My Mother + her sis +
My sis + bros have.
I can see it in my sons & nephews legs. So it's just a matter of time.

My primary doc say that fibro is all in your head when I ask him if he thought I had fibro. So odds are he doesn't believe this is real either.

The more I learn about medicine, and the majority of the jerks that 'practice' it, the more disgusted I get.
I appreciate the post from the original poster.
In my life BOTH of the major conditions that I suffer were found only after I pleaded with more than two doctors to test for it. Amazing how a bit of research (internet included) and self analysis can help out.
Both doctors that discovered my findings to be true (and ultimately proven by numerous tests) agreed that far too many conditions go undiagnosed and therefore untreated because there are so many
*&^%$#!@ MF'ers in the medical field that are so quick to poo-poo it and tell you things like - "don't try and diagnose it yourself", "if you follow a list like that you'll drive yourself nuts..." etc.

Thank God for people like the original poster that share information. Otherwise we'd be at the mercy of the alleged 'professionals' in the medical community. You know the ones - the same ones that don't want you to know how to adjust your machine if you have too.

I'm a hypochondriac. Now I have CMT. Damn

Lets, see.....I went for 10 years with untreated thyroid disease because my doctor said that my symptoms were just part of those "women" things. Then I went for a year and a half and was two months away from dying (according to the sleep lab) with heart block and my doctor kept telling me I just needed to lose weight and exercise more. And yes, my primary physician says that fibro is all in your head and causes a lot of grieve and misery for the medical profession. I don't look for things to be wrong with me. God knows I envy my friend who is 65 and has never been sick a day in her life, takes no medicine and smokes like a fiend but I know when I don't feel right.