Charcot-Marie-Tooth disease is named after the three doctors who first described it in 1886,
Professor Jean-Martin Charcot (1825-1893), his student,
Pierre Marie (1853-1940), who both worked in Paris at the Hospital de Salpetriere named after the former gunpowder factory site where it still stands, and
Dr. Howard Tooth (1856-1926) of London.

It is also called peroneal muscular atrophy because the peroneal muscle down the front of the shin that enables you to pull your foot up is usually the first muscle to be affected. A weakened peroneal muscle can cause sloppy walking, drop foot which causes tripping and you must lift your leg from the thigh so that your toes clear the ground and your foot slaps onto the ground, hopefully heel first.

CMT also has a third and more recent name, hereditary motor and sensory neuropathy. This name more accurately describes the syndrome because it is hereditary, can affect both or either the ability to move (motor) or the ability to feel (sensory). I have seen many people who cannot feel their feet or legs in a stocking pattern and many who cannot move their ankles, feet and toes and some who cannot feel or move anything from the knees down. Most people experience some loss of movement.

CMT is primarily a disease of the nerves whereby the myelin or insulating sheath of myelin on the nerves does not stay intact and the messages from the brain to the muscles through the nerves are not carried properly.

It differs from muscular dystrophy in that people who have CMT are born with normal muscles. The muscles atrophy because the CMT affected nerves that serve them cannot properly send the message from the brain for them to move. Therefore, muscles can atrophy even though they are being used.

People with muscular dystrophy have a problem with their muscles from the beginning. CMT is a muscular atrophy not a muscular dystrophy.

CMT is not well known but it is not rare. Many people do not know they have it even though it is carried in families, sometimes for generations. Often people write to me and tell me their family just thought they'd all inherited Grandma Jones' bad feet. One family member being properly diagnosed usually turns on the light bulbs for everyone else in that family.

CMT can be inherited three ways but most cases are inherited autosomal dominant pattern meaning it comes directly down a line from parent to child. In this form of inheritance there is a 50/50 chance at each conception that the child will have CMT. We have a publication that explains the ways CMT can be inherited and the genetic research that is going on as well as testing currently available.

Signs of CMT

Outward signs are what doctors look for to begin a diagnosis of CMT. The primary signs for CMT are: loss of muscle in the calf area giving the leg a very thin look from the knee down, a drop foot walk, high arches or very flat feet and other foot bone deformities, cocked or hammertoes, ankle weakness and loss of feeling and/or movement in the foot and ankle. Often, people will think they are klutzes or have always tripped over anything, when in fact they've just always been experiencing CMT.

Primary signs in the upper extremities are finger, hand and grip as well as wrist weakness, the loss of the muscle that lets the thumb move and a loss of feeling and/or movement in the hand and wrist. People will sometimes think they are just getting sloppy because they drop things or cannot do up buttons or pick up pins or coins.

Balance is usually affected because the muscles of the feet are weak and cannot compensate for a sudden stop or a change in the terrain. Even standing still can be very difficult and someone with CMT will often have to reach out and just touch something to be able to stand still.

Weak or absent reflexes can help a doctor diagnose CMT and of course knowing your family history helps a great deal.

Fatigue is one of the prime symptoms that everyone who has CMT seems to experience. Pacing and moderation is what we advocate. Easier said than done, we know, but it works.

Scoliosis and other spinal deformities are often diagnosed in people who show CMT at an early age, and some people experience hip and knee dislocations while some are born with deformed hip sockets.

Diagnosis can also be made by doing an electromyogram (EMG) that measures the irritability and function of muscles, and motor nerve-conduction velocity (MNCV) tests that establish the ability of nerves to send and receive impulses.

Symptoms of CMT

Symptoms of CMT vary greatly in each individual. That's why no doctor can predict what you'll be like in 10 or 20 years and one that does should be ignored. How your CMT manifests itself all depends on your genetic makeup, your lifestyle, activities, stresses, diet and everything else that makes up your life.

Since no two of us are the same, everyone's CMT is different. I've seen people with such a light case of CMT that they are still walking, climbing steps and working into their 70s. My mother is in her 80s and is still walking but using a cane. On the other hand, I am using an electric scooter at 58 and have a grip strength in my hands of two pounds. What a difference one generation can make.

Many people who have CMT have it so lightly that they are not aware of it until someone in the family comes up with a severe enough case that they go for a diagnosis; then, as I mentioned before, everyone starts searching. It isn't uncommon for us to hear from five or six branches of one family in a few months as they search out information for the CMT that has been in their family for generations but they just learned about because someone had a reunion and one of them had a child who showed CMT early and was diagnosed.

Other symptoms include: headache and sleep problems; breathing problems because the phrenic nerve that helps the diaphragm muscles that let your lungs push out air and bring in air are affected (a small percentage of our members are on ventilators either at night only or 24 hours); hearing and eyesight problems; a weak neck (your head feels too heavy); whistling, chewing, and swallowing (choking) difficulties and vocal cord paralysis have been noted as well as digestion and elimination problems; shoulder and chest weakness; muscle spasms in chest wall, arms, thighs (any muscles that are tired or overworked can spasm). Other symptoms can be very cold or very hot hands and feet. Painful hands, and symptoms not unlike carpal tunnel syndrome where there is a numbness and pain in the wrist and little fingers, can also be part of CMT; in fact, you can have carpal tunnel and CMT or CMT that is diagnosed as carpal tunnel if the doctor doesn't look at the rest of you.

Pain from nerve deterioration and weak, tired, overworked muscles is common and we work with a lot of CMT people who are in pain. A feeling of nerve or muscle crawling called formication, and burning, mainly on the soles of the feet and palms of the hands and sometimes the buttocks and back of the thighs, as well as tremors, can also be part of CMT. Sciatic leg pain and foot pain are also common.

Some people with CMT experience bouts of unexplained diarrhea or constipation. Some are extremely sensitive to light and sound, hot or cold and many are sensitive to stimulants such as caffeine and react badly to alcohol and tobacco and are sensitive to normal adult doses of many drugs, instead taking a child's dosage after talking to their physician.

Extreme or prolonged stressors such as a drawn out divorce, moving many times, a job that is too heavy or difficult for you, several close deaths in the family, an accident, or looking after children and an elderly parent, have been known to make a person with CMT worse. It is extremely difficult to prove that stress can exacerbate CMT but anyone who has gone through an extreme stressor and come out the other side much worse, can speak from experience.

Some people with CMT also experience problems with proprioception. That is the ability to tell where your body is in the space around it. Sometimes I can get into the car and not be able to tell if my foot is inside the car without looking at it. I can also feel as though I am all slouched over when in fact I am sitting up straight. This can be frightening to say the least but it isn't going to hurt you. In most cases you can just sit down, try to relax, and wait it out. CMT can cause severe disability in some cases but, as I've said, most people have it so mildly they do not know they have it. The above symptoms have been seen overall in a great many people who have CMT but most people who have CMT only experience a few of them.

CMT does not affect life expectancy unless the phrenic nerves that help you breathe are badly involved. Also, some people who have CMT lose the ability to cough. Not being able to cough and weakened respiratory function can mean a person is more susceptible to life-threatening lung infections and disease.

With an early diagnosis and by taking care of yourself over the years, most people with CMT will live a normal life span without too much difficulty, although there is no denying the fact that some people do have severe problems.

It is said that the best form of dealing with CMT is to live well. Treat yourself well. Do not overdo anything and learn to pace yourself.

We are learning more all the time about alternate therapies and drugs to control pain. Surgery can help foot, ankle, hand, finger, spine and hip problems. Ankle-foot orthotics (AFOs) can also help a person with footdrop walk without tripping and in-shoe orthotics can help alleviate pain experienced when walking and give a person an improved gait. There are methods and devices available to help you cope with everything from swallowing problems to not being able to wipe yourself.

Genetic research has already found the genes that cause some of the many types of CMT and is ongoing. Testing for some types is available.