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Charot-marie-tooth Disease

Though it is our first instinct to think that this disease has something to do with

either a woman named Marie or teeth, because of the name, this is not the case. Yes this disease has a funny name but it is not funny for those who have it. Charcot-Marie-Tooth disease (aka CMT) is the most common inherited neurological disorder, so common that it affects 1 out of every 2,500 Americans. Though it is an inherited disease it can also be caused by spontaneous mutation. It was given the name CMT because of the two sets of people who first described it in 1886. Professor Jean Martin Charcot and his student Pierre Marie described this disease as peroneal (the nerves in your extremities) muscular atrophy (the wasting away of body parts). That very same year Howard Henry Tooth described this disease as peroneal progressive muscular atrophy. He was the first to attribute the symptoms correctly to a neurological problem instead of a spinal or bone marrow problem. As the years progressed we have learned more about this disease but we still don't have a cure. We have only found out more ways to help cope with the symptoms of CMT.

There are several different types of CMT.

CMT1 is a disorder that affects the gene that makes the myelin proteins in the foot. Myelin is a protective barrier on the axon which is the portion of the nerve that sends information to the rest of the body. The myelin sheath that is created in patients with CMT is easily broken down causing low conduction velocity in the feet and then the hands. This leads to weakness and numbness in these extremities.

CMT2 is an axonal neurological disorder. In this variation the peroneal muscular atrophy occurs because the axon's in the feet die. Wallerian degeneration can also occur.


CMT3 is characterized by infancy on set. While most CMT patients show symptoms during the first two decades of life, infancy onset shows up in the first two years of life. This variation is very severe. It is also characterized by segmental demyelinaiton as well as myelin thinning.

CMTX also known as CMT4 is carried on the X chromosome. This variation is also characterized by demeylinating neuropathy.

CMT occurs in the lower extremities first. This can cause clumsiness or create a lack of desire to be active. Severe muscular degenerating is a major symptom of this disease. A variety of foot deformities can occur because of the lack of nerve communication between the brain and the feet. Foot drop resulting in the patient having to pick up their feet very high in order to get their feet off the ground is very common as well as hammertoes and pes cavus (high arches).


Though there is no cure for CMT yet there are several different methods to help slow the degeneration as well as ease the pain caused by foot deformities. Physical therapy and strength training are two very helpful forms of therapy for patients with CMT. Braces, shoes with good ankle support, podiatric surgery, stretching, and painkillers are also valuable ways to help cope with CMT.

If you know no someone with CMT give them a little extra attention today... This is not an easy disease to suffer from. If you think you or someone you know might have Charcot-Marie-Tooth disease go see a Podiatrist. There are ways to test and ways to cope with the symptoms associated with this disease.

Copyright (c) 2010 Dr. Jennifer Feeny

by: Dr. Jennifer Feeny
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Charot-marie-tooth Disease Anaheim