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    Charcot Marie Tooth Disease

    Important
    It is possible that the main title of the report Charcot Marie Tooth Disease is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

    Synonyms

    • CMT
    • HSMN
    • hereditary motor and sensory neuropathy
    • peroneal muscular atrophy

    Disorder Subdivisions

    • None

    General Discussion

    Charcot Marie Tooth disease is a group of disorders in which the motor and/or sensory peripheral nerves are affected, resulting in muscle weakness and atrophy, as well as sensory loss. These manifestions occur first in the distal legs and later in the hands. The nerve cells in individuals with this disorder are not able to send electrical signals properly because of abnormalities in the nerve axon or abnormalities in the insulation (myelin) around the axon. Specific gene mutations are responsible for the abnormal function of the peripheral nerves. Charcot Marie Tooth disease can be inherited in an autosomal dominant, autosomal recessive or X-linked mode of inheritance.

    Resources

    Charcot-Marie-Tooth Association
    PO Box 105
    Glenolden, PA 19036
    Tel: (610)499-9264
    Fax: (610)499-9267
    Tel: (800)606-2682
    Email: info@charcot-marie-tooth.org
    Internet: http://www.charcot-marie-tooth.org

    Muscular Dystrophy Association
    3300 East Sunrise Drive
    Tucson, AZ 85718-3208
    USA
    Tel: (520)529-2000
    Fax: (520)529-5300
    Tel: (800)572-1717
    Email: mda@mdausa.org
    Internet: http://www.mda.org/

    NIH/National Institute of Neurological Disorders and Stroke
    P.O. Box 5801
    Bethesda, MD 20824
    Tel: (301)496-5751
    Fax: (301)402-2186
    Tel: (800)352-9424
    TDD: (301)468-5981
    Internet: http://www.ninds.nih.gov/

    Hereditary Neuropathy Foundation, Inc.
    432 Park Avenue South, 4th Floor
    New York, NY 10128
    Tel: (212)722-8396
    Tel: (855)435-7268
    Email: info@hnf-cure.org
    Internet: http://www.hnf-cure.org

    Genetic and Rare Diseases (GARD) Information Center
    PO Box 8126
    Gaithersburg, MD 20898-8126
    Tel: (301)251-4925
    Fax: (301)251-4911
    Tel: (888)205-2311
    TDD: (888)205-3223
    Internet: http://rarediseases.info.nih.gov/GARD/

    Center for Peripheral Neuropathy
    University of Chicago
    5841 South Maryland Ave, MC 2030
    Chicago, IL 60637
    Tel: (773)702-5659
    Fax: (773)702-5577
    Internet: http://peripheralneuropathycenter.uchicago.edu/

    Madisons Foundation
    PO Box 241956
    Los Angeles, CA 90024
    Tel: (310)264-0826
    Fax: (310)264-4766
    Email: getinfo@madisonsfoundation.org
    Internet: http://www.madisonsfoundation.org

    Let Them Hear Foundation
    1900 University Avenue, Suite 101
    East Palo Alto, CA 94303
    Tel: (650)462-3174
    Fax: (650)462-3144
    Email: info@letthemhear.org
    Internet: http://www.letthemhear.org

    Child Neurology Foundation
    201 Chicago Ave, #200
    Minneapolis, MN 55415
    USA
    Tel: (952)641-6100
    Fax: (952)881-6276
    Tel: (877)263-5430
    Email: jstone@childneurologyfoundation.org
    Internet: http://www.childneurologyfoundation.org

    Potocki-Lupski Syndrome Outreach Foundation, Inc
    2305 Kitty Hawk Dr
    Plano, TX 75025
    Tel: (214)435-8288
    Email: info@potockilupskisyndrome.org
    Internet: http://www.ptlsfoundation.org

    For a Complete Report:

    This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

    The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

    It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

    This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

    For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

    Last Updated: 4/3/2009
    Copyright 1986, 1987, 1988, 1989, 1991, 1993, 1994, 1996, 1997, 1999, 2003, 2004, 2009 National Organization for Rare Disorders, Inc.

    WebMD Medical Reference from the National Organization for Rare Disorders

    Last Updated: May 28, 2015
    This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

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