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Charcot-Marie-Tooth Disease Print E-mail
by Ron Kennedy, M.D., Santa Rosa, CA

Dr. Kennedy Charcot-Marie-Tooth (CMT) disease is the most common inherited neurological disorder, affecting approximately 150,000 Americans. CMT is found world-wide in all peoples. It was first described in 1886 by Jean-Marie-Charcot, Pierre Marie, and Howard Henry Tooth. CMT patients slowly lose normal use of their feet and legs, hands and arms as nerves to the extremities degenerate. The muscles in the extremities become weakened because of the loss of stimulation by the affected nerves. Also, there is a loss of sensory nerve function. Unlike muscular dystrophy in which the defect is in the muscles, CMT is a disorder in which the defect is in the nerves that control the muscles.

A high arched foot is one of the first signs of this disorder. As the disease progresses, progressive deformation of the foot occurs. The patient develops a pes cavus foot with hammer toes. Foot drop and ankle sprains are frequent complications. The progressive muscle wasting leads to problems with walking, running, and balancing. To avoid tripping, patients with foot drop raise their knees unusually high resulting in high step gait. In some patients, muscle weakness may also occur in the thighs. Flat foot is also seen in patients with CMT. Hand function becomes affected because of progressive muscle atrophy, making fine manipulatory acts, like writing, difficult. Loss of nerve function in the extremities also leads to sensory loss. The ability to distinguish hot and cold is diminished as is the sense of touch.

The degree of severity can vary greatly from patient to patient, even within the same family. A child may or may not be more severely disabled than his/her parent. CMT is generally inherited in an autosomal dominant pattern. This means that if one parent has the disease (either the father or the mother) there is a 50% chance of passing it on to each child. CMT can also be inherited in recessive or an X-linked pattern. To determine the pattern of inheritance, each CMT patient should consult a genetic counselor, neurologist or other medical authority familiar with the disease.

Correct diagnosis of CMT involves clinical evaluation of muscle atrophy, testing of muscle and sensory responses, nerve condition and electromyographic (EMG) studies, as well as a thorough review of the patient's history. CMT types 1A and 1X can now be diagnosed by a DNA blood test. Some people who carry the CMT genetic trait show no apparent physical symptoms. The variation in degree of physical disability, together with a lack of physician awareness of CMT, has often led to missed diagnoses.

At present there is no cure for CMT, although physical therapy and moderate activity are often recommended to maintain muscle strength and endurance. Orthotic shoes or inserts will help to improve gait. Leg braces will prevent ankle sprains, improve gait, and reduce the amount of energy needed to walk. Corrective orthopedic foot surgery is available to help maintain mobility when medically indicated. Splinting, specific exercises, adaptive devices and surgery can help maintain hand function.

The information in this article is not meant to be medical advice.�Treatment for a medical condition should come at the recommendation of your personal physician.

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