Charcot-Marie-Tooth disease is a group of inherited disorders that affect the peripheral nerves (those outside the brain and spine).
Alternative NamesProgressive neuropathic (peroneal) muscular atrophy; Hereditary peroneal nerve dysfunction; Neuropathy - peroneal (hereditary); Hereditary motor and sensory neuropathy
Causes, incidence, and risk factorsCharcot-Marie-Tooth is one of the most common inherited nerve-related disorders. Defects in at least 14 genes cause different forms of this disease.
The disease involves damage to the covering (myelin sheath) around nerve fibers. In some, the disease causes destruction of the myelin sheath. In others, the central (axon) portion of the nerve cell wears away.
Nerves that stimulate movement (the motor nerves) are most severely affected. The nerves in the legs are affected first and most severely.
SymptomsSymptoms 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 deformity.
Signs and testsA physical exam may show:
A muscle biopsyor nerve biopsy may confirm the diagnosis. Nerve conduction tests are often done to tell the difference between different forms of the disorder.
Genetic testing is available for most forms of the disease.
TreatmentThere 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.
Expectations (prognosis)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.
ComplicationsCall for an appointment with your health care provider if there is persistent weakness or decreased sensation in the feet or legs.
PreventionGenetic counseling and testing is advised if there is a strong family history of the disorder.
ReferencesSarnat HB. Hereditary Motor-Sensory Neuropathies. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds.Nelson Textbook of Pediatrics. 18th Ed. Philadelphia, Pa: Saunders Elsevier; 2007: chap 612.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.
Alternative NamesProgressive neuropathic (peroneal) muscular atrophy; Hereditary peroneal nerve dysfunction; Neuropathy - peroneal (hereditary); Hereditary motor and sensory neuropathy
Causes, incidence, and risk factorsCharcot-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.
SymptomsNerves 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.
Signs and testsA physical exam may show:
A muscle biopsyor nerve biopsy may confirm the diagnosis. Nerve conduction tests are often done to tell the difference between different forms of the disorder.
Genetic testing is available for most forms of the disease.
TreatmentThere 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.
Expectations (prognosis)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.
ComplicationsCall for an appointment with your health care provider if there is persistent weakness or decreased sensation in the feet or legs.
PreventionGenetic counseling and testing is advised if there is a strong family history of the disorder.
ReferencesSarnat HB. Hereditary Motor-Sensory Neuropathies. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds.Nelson Textbook of Pediatrics. 18th Ed. Philadelphia, Pa: Saunders Elsevier; 2007: chap 612. Reviewed ByReview Date: 08/04/2011
Chad Haldeman-Englert, MD, Wake Forest University 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, Medical Director, A.D.A.M., Inc.
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