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