The National Organization for Rare Disorders (NORD) over 1200 disease reports

Over 1200 Disease Reports
Not a Subscriber Yet?
         Details
Here


Database Subscriptions

Many libraries, schools, universities, and hospitals subscribe to NORD’s Rare Disease Database for unlimited access to reports on more than 1,200 diseases.

Index of Rare Diseases

This is the list of diseases currently covered in the Rare Disease Database.

Rare Disease Database

Search this database for reports on more than 1,200 diseases.

View sample report

Index of Organizations

This is the list of organizations in NORD’s Organizational Database.

Organizational Database

Read about more than 2,000 patient organizations and other sources of help.

NORD's
Washington Office

NORD's Washington OfficeRead about events on Capitol Hill, funding for rare-disease research, and other topics of interest from NORD's office in Washington, DC.

 



Charcot Marie Tooth Disease

To purchase full-text report ($7.50):
View Cart/Checkout

The National Organization for Rare Disorders (NORD) web site, its databases, and the contents thereof are copyrighted by NORD. No part of the NORD web site, databases, or the contents may be copied in any way, including but not limited to the following: electronically downloading, storing in a retrieval system, or redistributing for any commercial purposes without the express written permission of NORD. Permission is hereby granted to print one hard copy of the information on an individual disease for your personal use, provided that such content is in no way modified, and the credit for the source (NORD) and NORD’s copyright notice are included on the printed copy. Any other electronic reproduction or other printed versions is strictly prohibited.

The information in NORD's Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD's reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as "Resources" on this report.

Copyright 1986, 1987, 1988, 1989, 1991, 1993, 1994, 1996, 1997, 1999, 2003, 2004, 2009

NORD is very grateful to Steven Scherer, MD, PhD, Department of Neurology, University of Pennsylvania and Mustafa Saifi, PhD, Department of Molecular and Human Genetics, Baylor College of Medicine, for assistance in the preparation of this report.

Synonyms of Charcot Marie Tooth Disease
  • CMT
  • hereditary motor and sensory neuropathy
  • HSMN
  • peroneal muscular atrophy

Disorder Subdivisions



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.

Organizations related to Charcot Marie Tooth Disease
  • Charcot-Marie-Tooth Association
    2700 Chestnut Street
    Chester PA 19013-4867
    Phone #: 610-499-9264
    800 #: 800-606-2682
    e-mail: info@charcot-marie-tooth.org
    Home page: http://www.charcot-marie-tooth.org
  • Child Neurology Foundation
    2000 West 98th Street
    Bloomington MN 55431
    Phone #: 952-641-6100
    800 #: 800-263-5430
    e-mail: jstone@childneurologyfoundation.org
    Home page: http://www.childneurologyfoundation.org
  • Genetic and Rare Diseases (GARD) Information Center
    PO Box 8126
    Gaithersburg MD 20898-8126
    Phone #: 301-251-4925
    800 #: 888-205-2311
    e-mail: ordr@od.nih.gov
    Home page: http://rarediseases.info.nih.gov/Default.aspx
  • Hereditary Neuropathy Foundation, Inc.
    1751 2nd Ave
    Suite 103
    New York NY 10128
    Phone #: 212-722-8396
    800 #: 877-463-1287
    e-mail: info@hnf-cure.org
    Home page: http://www.hnf-cure.org
  • Jack Miller Center for Peripheral Neuropathy
    University of Chicago
    5841 South Maryland Ave, MC 2030
    Chicago IL 60637
    Phone #: 773-702-5800
    800 #: N/A
    e-mail: N/A
    Home page: http://millercenter.uchicago.edu
  • Let Them Hear Foundation
    1900 University Avenue, Suite 101
    East Palo Alto CA 94303
    Phone #: 650-462-3143
    800 #: 877-735-2929
    e-mail: info@letthemhear.org
    Home page: http://www.letthemhear.org
  • MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
    150 Custer Court
    Green Bay WI 54301-1243
    Phone #: 920-336-5333
    800 #: 877-336-5333
    e-mail: mums@netnet.net
    Home page: http://www.netnet.net/mums/
  • Madisons Foundation
    PO Box 241956
    Los Angeles CA 90024
    Phone #: 310-264-0826
    800 #: N/A
    e-mail: getinfo@madisonsfoundation.org
    Home page: http://www.madisonsfoundation.org
  • Muscular Dystrophy Association
    3300 E. Sunrise Dr
    Tucson AZ 85718
    Phone #: 520-529-2000
    800 #: 800-344-4863
    e-mail: mda@mdausa.org
    Home page: http://www.mdausa.org
  • National Institute of Neurological Disorders and Stroke (NINDS)
    P.O. Box 5801
    Bethesda MD 20824
    Phone #: 301-496-5751
    800 #: 800-352-9424
    e-mail: me20t@nih.gov
    Home page: http://www.ninds.nih.gov/

ABOUT NORD .|. CONTACT NORD .|. MEMBERSHIP .|. PRIVACY POLICY .|. DISCLAIMER .|. HOME
©2009 NORD - National Organization for Rare Disorders, Inc. All rights reserved.

Last modified Wednesday, November 26, 2008