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Charcot-Marie-Tooth Disease (ˌ)shär-ˌkō-mə-ˌrē-ˈtüth-

(Charcot-Marie-Tooth's Disease)

By Michael Rubin, MDCM

Charcot-Marie-Tooth disease (peroneal muscular atrophy) is a hereditary neuropathy in which the muscles of the lower legs become weak and waste away (atrophy).

Charcot-Marie-Tooth disease is the most common hereditary neuropathy, affecting 1 of 2,500 people. It is a sensory and motor neuropathy. That is, it affects motor nerves (which control muscle movement) and sensory nerves (which carry sensory information to the brain).

There are two main types and several subtypes of the disease. In some types, axons (the part of the nerve that sends messages) remain alive, but the myelin sheath surrounding them is damaged or destroyed (demyelinated). (The myelin sheath functions much like insulation around electrical wires, enabling nerve impulses to travel quickly—see Figure: Insulating a Nerve Fiber.) In other types, the axons die.

Most types of the disease are inherited as an autosomal (not sex-linked) dominant trait (see Dominant disorders). That is, only one gene from one parent is required for the disease to develop.

Dejerine Sottas disease (hypertrophic interstitial neuropathy), another hereditary sensory and motor neuropathy, causes symptoms similar to those of Charcot-Marie-Tooth disease. However, weakness worsens much more quickly. Sensation and reflexes are also lost. It begins during childhood.

Symptoms

Symptoms vary by type of the disease.

Type I

Symptoms begin in middle childhood. Weakness begins in the lower legs. It causes an inability to flex the foot (footdrop) and wasting away of the calf muscles (stork leg deformity). Later, hand muscles begin to waste away. The hands and feet become unable to sense vibration, pain, and temperature, and this loss of sensation gradually moves up the limbs.

In milder subtypes of type I, high arches and hammer toes may be the only symptoms. In one subtype, males have severe symptoms, and females have mild symptoms or may be unaffected.

The disease progresses slowly and does not affect life span.

Type II

The neuropathy progresses more slowly and causes somewhat similar symptoms, often beginning during adolescence.

Diagnosis

  • A doctor's evaluation

  • Electromyography and nerve conduction studies

Doctors ask which areas of the body are weak, when the disease began, and whether family members have similar symptoms. They also check whether people have foot deformities (high arches and hammer toes). This information helps doctors identify the different types of Charcot-Marie-Tooth disease and distinguish them from other causes of neuropathy.

Electromyography and nerve conduction studies (see Tests for Brain, Spinal Cord, and Nerve Disorders : Electromyography and Nerve Conduction Studies) are done to confirm the diagnosis.

Genetic testing and counseling for Charcot-Marie-Tooth disease are available.

Treatment

  • Braces for footdrop

  • Sometimes physical and occupational therapy

No treatment can stop the progression of the disease.

Wearing braces helps correct footdrop, and sometimes orthopedic surgery is needed to stabilize the foot.

Physical therapy (to strengthen muscles) and occupational therapy may be helpful. Vocational counseling may help people maintain vocational skills even though the disorder is progressing.

* This is the Consumer Version. *