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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 of Rare Disorders

Last Updated: September 04, 2014
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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