Charcot Marie Tooth Disease

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CMT - A life changing diagnosis

If someone told you that they had Charcot-Marie-Tooth, would you wonder what was wrong with their teeth?

Charcot-Marie-Tooth is not a dental problem. The name may sound funny, yet the disease is anything but.

CMT is a disabling condition that comes on without warning. It can impair the ability to walk, impede the normal use of one's hands, and result in the loss of sensation in both hands and feet.

It's the No. 1 inherited neuromuscular disease in America, affecting more than 250,000 Americans. And although very few people have heard of it, CMT is the most commonly inherited neuropathy in the US.

I am one of many who live with this disease.

Cold Feet - A Symptom of CMT?

Having a medical background, I went in search of why this was happening. I felt as though I needed to understand that before I could find ways to deal with the issue.

Here is what I found out:

Blood vessels of CMT feet do not respond normally to temperature. Normally they close down to prevent heat loss when exposed to cold. In some CMT people they do the opposite causing more heat loss; in others they close down too long so that there is a lack of circulation.

If too much heat is lost, the skin cells can actually freeze resulting in pain. If the blood vessels clamp down too long, the lack of oxygen from poor circulation will cause pain.

For people who have CMT, having cold feet is a common problem. Putting on an extra pair of socks on doesn't cut it - it isn't enough. We are unable to warm our feet adequately without an outside heat source.

Outside heat sources include:

Hot Water Bottle
Heating Pad (I use a rice heating pad)
Space Heater

Because of this, I try to always be aware of the temperature of my feet (my hands as well, but mostly my feet). Not always an easy task since my sensory nerves are also affected; which means I don't feel when they're cold.

Believe it or not, you find ways to adapt. That is one thing this disease has taught me, and continues to teach me on a regular basis.



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Symptoms Of Charcot Marie Tooth

The neuropathy of CMT affects both motor and sensory nerves. A typical feature includes weakness of the foot and lower leg muscles, which may result in foot drop and a high-stepped gait with frequent tripping or falls.

Foot deformities, such as high arches and hammertoes (a condition in which the middle joint of a toe bends upwards) are also characteristic due to weakness of the small muscles in the feet. In addition, the lower legs may take on an "inverted champagne bottle" appearance due to the loss of muscle bulk. Some may need to rely on foot or leg braces or other orthopedic devices to maintain mobility.

Later in the disease, weakness and muscle atrophy may occur in the hands, resulting in difficulty with fine motor skills.

Onset of symptoms is most often in adolescence or early adulthood, however presentation may be delayed until mid-adulthood. The severity of symptoms is quite variable in different patients and even among family members with the disease.

Symptoms and progression of the disease can vary. Breathing can be affected in some; as can hearing, vision, and the neck and shoulder muscles. Scoliosis is common, and hip sockets can be malformed.

Gastrointestinal problems can be part of CMT, as can chewing, swallowing, and speaking (as vocal cords atrophy). A tremor can develop as muscles waste.

Pregnancy has been known to exacerbate CMT, as well as extreme emotional stress.

Pain - A Symptom of CMT


Mosby Pain Rating Scale

Pain can range from mild to severe, and pain management needs to be addressed by your doctor. If it hasn't been, then initiate the conversation yourself. They do not know what it's like for us unless we tell them.

Pain-killing drugs can be prescribed for patients who have severe pain. However; many often have undesirable side effects.

After much research, I chose to go the "natural route" in an attempt to manage my pain.


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Management and Treatment

There is no cure for CMT. However; physical therapy, occupational therapy, braces and other orthopedic devices, and even orthopedic surgery can help patients cope with the disabling symptoms of the disease.

Videos About CMT

The Hereditary Neuropathy Foundation presents: Charcot Marie Tooth Pt. 1
by HNFoundation | video info

42 ratings | 30,789 views
curated content from YouTube

Did You Know?

The Charcot-Marie-Tooth Association classifies the chemotherapy drug Vincristine as a "definite high risk" and states that "Vincristine has been proven hazardous and should be avoided by all CMT patients, including those with no symptoms."

In addition to Vincristine, there are other medications that can exacerbate CMT symptoms.

Medication Alert

Charcot Marie Tooth News

Updated daily!

New measurement tool for clinical trials to help children with Charcot-Marie ...
An international study led by the University of Sydney and published in the Annals of Neurology has the potential to improve the design of clinical trials for the treatment of Charcot-Marie-Tooth disease, a disorder which affects the peripheral nervous ...
New measurement tool for clinical trials to help children with Charcot-Marie ...
(Medical Xpress) -- An international study led by the University of Sydney and published in the Annals of Neurology has the potential to improve the design of clinical trials for the treatment of Charcot-Marie-Tooth disease, a disorder which affects ...
Worrisome falls mean change is in the air
This is all thanks to age and a genetic neuromuscular syndrome called Charcot-Marie-Tooth disease that I've been dubiously blessed with since birth. I sometimes wonder what my life would have been like had I not had this condition, ...
New UM stem cell line looks to tackle Charcot-Marie-Tooth disease
Stem cells are known for their potential to show how genetic diseases start and develop. UM's latest stem cell line carries the gene defect responsible for Charcot-Marie-Tooth disease, a hereditary neurological disorder characterized by a slowly ...

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CMT Resources

Charcot-Marie-Tooth Association

C-M-T Association

Charcot Marie Tooth Disease

The Hereditary Neuropathy Foundation raises awareness, funds scientific research, and educates the medical community and the general public about Charcot Marie Tooth Disease, CMT Syndrome, and Hereditary Neuropathy.

CMT NEWS

CMT NEWS is no longer being updated; but it is still a wonderful resource for those who live with CMT.

CMT-Support ·Yahoo Group

A very active group for CMT-Support

The Spoon Theory

An analogy of what it is like to live with sickness or disability.

See Also:

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Questions About CMT?

Or has this information answered them?

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  • Sam May 20, 2012 @ 5:37 pm | delete
    Hi my step dad and step sister's and step niece all have cmt, my step dad just thought it was years of playing football that have led to bad legs he is 63 and had cmt all his life obviously, he is now struggling with the muscle's in his hands gripping things. My older step sister who's 38 is in talks to have reconstruction on her feet after last year not knowingly her ankle broke so she had surgery to fix it and then has spoke to consultants to have her high arch sorted so she can wear nice shoes and get shoes to fit her properly. And then my little step sister well she has suffered from problems with her legs since she started walking forever falling over and then at 8 her knee dislocated and still they didn't pick anything up and then at 14 her other knee dislocated and then we really pushed into having her check and also at the same time our niece was also diagnosed with cmt so we asked for her to be checked and yes she was diagnosed to but we've been told that her having foot surgery isn't really going to help her so she has insoles and splints for her toes. But my step dad says he wouldn't go for the foot surgery as he says he played football with it and he's learned to live with it so why change now at 63 its just bothering him now with his muscles in his hands we hope it doesn't affect him riding his motorbike as then he will be so upset. Good luck and will keep posting as new things happen with the family
  • kayt Oct 12, 2010 @ 9:35 pm | delete
    I am having trouble finding info about my friend's CMT. She has steadily gotten worse since I met her 15 years ago. She is now in a wheel chair, cannot use her hands (they are floppy), cannot move her legs at all, is constantly on oxygen, has lost a lot of feeling in her arms,legs &even the top of her head, and is beginning to have difficulty swallowing. Is this common for CMT? Anyone else progressed this far? I need to know what to expect. Somebody HELP!
  • Matt Oct 26, 2010 @ 4:37 pm | delete
    I'm 17 years old and my name is matt. That sounds like a much more severe case of cmt than I or any of my family members have. 10 weeks ago I had to have a major reconstructive surgery on my foot due to my cmt disease. i'm still recovering but my foot seems to have healed quite well. cmt had caused my foot to develope a high arch and hammertoes that only worsened when i hit puberty. I was really good at hiding the fact that i had cmt. i learned to appear to walk normally despite the physical challenges pushing me to walk on the side of my foot. The only other symptoms that have shown up on me so far are my weakend forearms and calves. i dont know what else i can tell you. i wish the best of luck to you and your friend. i hope this helped.
  • Matt May 13, 2010 @ 11:45 am | delete
    Hi I’m Matt, I'm 16 years old and CMT runs in my family. My sister Jessica is 20 years old and has had to deal with it since she was about 6. In order to fight/ overcome her ordeal with CMT she has had over 3 surgeries on both her left and right feet. But each surgery seemed to be to no avail. My dad also has CMT and has one surgery. As far as I can tell the surgeries haven’t really helped him either. Both still have trouble walking and running normally. Now that I am going through puberty my CMT symptoms are slowly growing worse. My arches are growing higher, my balance is deteriorating and my muscles in my four arms, hands, calf’s and feet are getting weaker. Up until recently my CMT hasn’t really affected me and it’s kind of scary watching it slowly get worse. I have watched my sister go throw 3 pointless surgeries and I just want to know if there’s a better way to deal with this disorder? If someone could give me some advice on preventative measures I can take, I would much appreciate it. Thank you.
  • sue Jul 2, 2010 @ 6:25 am | delete
    i am so sorry i have this disorder since i was 16 ,i am now a mum of 3 boys one of who has it he is 22 and has pain in his shins ,i wish i could wave a magic wand for you but i cant ,all i can say is try to take advice from the doctors i know its hard but you will manage ,try not to be a hero ,tell people how you feel if it hurts have a shoulder to lean on ,and try any thing the docs say ,well in moderation .the best thing for me was to ask to go to my local hospital to the surgical appliances dept ,i have a insole that is rather extreme looking ,its sooo big i can just get it in my shoe but it helps so much go to doctor and ask to go to your hospital to be seen for a insole ,you must get in the system now dont battle on too long the insole corrects your way of walking so relieves the stress and tension in the calf muscles .it wont cure you but it makes life easier so think about it and talk to your parents dont keep on excercising i found it no use only aggrevates it .also go and get it all down on doctors file as you might need to claim for a motobility car later i have one ,we cant change this thing so try to make it easier .when you pass your test you can choose a car not a porsche tho so look on the bright side no tax no insurance to pay ,i wish you well love sue
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Macs Bio

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Macs

Hello and welcome! My name is Tammi, but you can call me Tam to keep it simple.
I'm married and currently living in Washington. We have 3 cats and a dog;...
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