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Charcot-Marie-Tooth Disorder

What is Charcot-Marie-Tooth Disorder?

Charcot-Marie-Tooth disease is one of the most common inherited neurological disorders, affecting approximately 1 in 2,500 people in the United States.

Charcot-Marie-Tooth disease comprises a group of disorders caused by mutations in genes that affect the normal function of the peripheral nerves.

Charcot-Marie-Tooth disease is also called hereditary motor and sensory neuropathy or peroneal muscular atrophy. It was discovered in 1886 by three physicians, Jean-Marie-Charcot, Pierre Marie, and Howard Henry Tooth.

Symptoms of Charcot-Marie-Tooth disease

Some common features of Charcot-Marie-Tooth disease are:

  • weakness of the foot and lower leg muscles
  • foot drop
  • a high-stepped gait
  • high foot arches and
  • hammer toes

What Causes Charcot-Marie-Tooth disease?

Charcot-Marie-Tooth disease is caused by defects in the genes for proteins found in the fibers that carry electrical signals between the brain and spinal cord and the rest of the body. The disease is also caused by defects in the genes for proteins found in myelin. Myelin is a coating on axons that insulates and nourishes them.

Can Charcot-Marie-Tooth disease be treated?

Charcot-Marie-Tooth disease can be treated but not cured. Treatments are aimed at reducing the severity of the symptoms. Common treatments are physical therapy, occupational therapy, braces and other orthopedic devices, and orthopedic surgery.

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