Charcot-Marie-Tooth disease is a group of disorders passed down through families that affect the nerves outside the brain and spine. These are called the peripheral nerves.
Charcot-Marie-Tooth is one of the most common nerve-related disorders passed down through families (inherited). Problems in at least 40 genes cause different forms of this disease.
The disease leads to damage or destruction to the covering (myelin sheath) around nerve fibers.
Nerves that stimulate movement (called the motor nerves) are most severely affected. The nerves in the legs are affected first and most severely.
Symptoms usually begin between mid-childhood and early adulthood. They may include:
Later, similar symptoms may appear in the arms and hands, which may include a claw-like hand.
A physical exam may show:
Genetic testing is available for most forms of the disease.
There is no known cure. Orthopedic surgery or equipment (such as braces or orthopedic shoes) may make it easier to walk.
Physical and occupational therapy may help maintain muscle strength and improve independent functioning.
Charcot-Marie-Tooth disease slowly gets worse. Some parts of the body may become numb, and pain can range from mild to severe. Eventually the disease may cause disability.
Call for an appointment with your health care provider if there is persistent weakness or decreased sensation in the feet or legs.
Genetic counseling and testing is advised if there is a strong family history of the disorder.
Progressive neuropathic (peroneal) muscular atrophy; Hereditary peroneal nerve dysfunction; Neuropathy - peroneal (hereditary); Hereditary motor and sensory neuropathy
Sarnat HB. Hereditary motor-sensory neuropathies. In: Kliegman RM, Stanton BF, St. Geme III JW, Shor NF, Behrman RE, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, Pa: Saunders Elsevier; 2011:chap 605.
Updated by: Chad Haldeman-Englert, MD, FACMG, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Bethanne Black, and the A.D.A.M. Editorial team.
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