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Charcot-Marie-Tooth disease
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Charcot-Marie-Tooth disease

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Progressive neuropathic (peroneal) muscular atrophy; Hereditary peroneal nerve dysfunction; Neuropathy - peroneal (hereditary); Hereditary motor and sensory neuropathy

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.

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  • Causes

    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.

  • Symptoms

    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:

    • Foot deformity (very high arch to feet)
    • Foot drop (inability to hold foot horizontal)
    • Loss of lower leg muscle, which leads to skinny calves
    • Numbness in the foot or leg
    • "Slapping" gait (feet hit the floor hard when walking)
    • Weakness of the hips, legs, or feet

    Later, similar symptoms may appear in the arms and hands, which may include a claw-like hand.

  • Exams and Tests

    A physical exam may show:

    • Difficulty lifting up the foot and making toe-out movements (foot drop)
    • Lack of stretch reflexes in the legs
    • Loss of muscle control and atrophy (shrinking of the muscles) in the foot or leg
    • Thickened nerve bundles under the skin of the legs

    A muscle biopsy or 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.

  • Treatment

    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.

  • Outlook (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.

  • Possible Complications

    • Progressive inability to walk
    • Progressive weakness
    • Injury to areas of the body that have decreased sensation
  • When to Contact a Medical Professional

    Call for an appointment with your health care provider if there is persistent weakness or decreased sensation in the feet or legs.

  • Prevention

    Genetic counseling and testing is advised if there is a strong family history of the disorder.

Related Information

  Numbness and tingl...Muscle atrophyMyelinAutosomal dominant...Autosomal recessiv...Sex-linked recessi...    

References

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.

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Review Date: 9/8/2013  

Reviewed 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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