Charcot-Marie-Tooth Disorder

Charcot-Marie-Tooth disorder (CMT) is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles in the foot, lower leg, hand, and forearm, and a mild loss of sensation in the limbs, fingers, and toes.

The first sign of CMT is generally a high arched foot or gait disturbances. Other symptoms of the disorder may include foot bone abnormalities such as high arches and hammer toes, problems with hand function and balance, occasional lower leg and forearm muscle cramping, loss of some normal reflexes, occasional partial sight and/or hearing loss, and, in some patients, scoliosis (curvature of the spine).

CMT is a disorder of genetic heterogeneity, in which mutations in different genes can produce the same clinical symptoms. In CMT, there are not only different genes but different patterns of inheritance. The most common type, CMT1A, is inherited in an autosomal dominant pattern. This means that if one parent has CMT there is a 50 percent chance of passing the disease on to each child. Other types are autosomal recessive or sex-linked CMT. Each type is characterized by symptoms ranging from severe weakness and wasting of leg and hand muscles to very mild symptoms or no symptoms at all. Full expression of CMT's clinical symptoms generally occurs by age 30. The more severe symptoms are related to an earlier age of onset.

There is no cure or specific treatment for CMT. Proper foot care including custom-made shoes and leg braces may minimize discomfort and increase function. Physical therapy and moderate activity are often recommended to maintain muscle strength and endurance. For some patients, surgery may be beneficial.

CMT is not a fatal disease and the disorder does not affect normal life expectancy. Most individuals with CMT continue to work. Wheelchair confinement is rare.

Information provided by the
National Institute of Neurological Disorders and Stroke,
National Institutes of Health

Each year, Medical College of Wisconsin physicians care for more than 180,000 patients, representing nearly 500,000 patient visits. Medical College physicians practice at Children's Hospital of Wisconsin, Froedtert Memorial Lutheran Hospital, the Milwaukee VA Medical Center, and many other hospitals and clinics in Milwaukee and southeastern Wisconsin.