Genetic and Rare Diseases Information Center (GARD)


Other names people use for this condition
  • CMT
  • Hereditary motor and sensory neuropathy
  • HMSN
  • Charcot Marie Tooth disease
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Charcot-Marie-Tooth disease
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Charcot-Marie-Tooth disease is a group of disorders that affect the peripheral nerves, the nerves running from outside the brain and spine.[1] Defects in at least 14 genes cause different forms of this disease. Common symptoms may include foot drop, foot deformity, loss of lower leg muscle, numbness in the foot or leg, “slapping" gait (feet hit the floor hard when walking), and weakness of the hips, legs, or feet.[1] There is currently no cure for Charcot-Marie-Tooth disease, but physical therapy, occupational therapy, braces and other orthopedic devices, pain medication, and orthopedic surgery can help manage and improve symptoms.[2]

There are over 40 types of Charcot-Marie-Tooth disease. You can search for more information on a particular type of Charcot-Marie-Tooth disease from the GARD Home page. Enter the name of the condition in the GARD search box, and then select the type from the drop down menu.

References
  1. Charcot-Marie-Tooth Disease. MedlinePlus. 2008 Available at: http://www.nlm.nih.gov/medlineplus/ency/article/000727.htm. Accessed February 12, 2009.
  2. Charcot-Marie-Tooth Fact Sheet. National Institute of Neurological Disorders and Stroke (NINDS). 2007 Available at: http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm#102833092. Accessed February 12, 2009.

Questions & Answers (Found 2 Questions)
A list of questions from the public on rare and/or genetic diseases that have been answered by the Genetic and Rare Disease Information Center. Click on each question to find the answer.
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For more information about Charcot-Marie-Tooth disease click on the boxes below:
More Detailed Information NLM Gateway Services Support Groups Clinical Trials & Research
 General | Management Guidelines
More Detailed Information (Found 13 resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates

  • General

    • eMedicine provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free
    • The Genetic Alliance is an international coalition comprised of more than 600 advocacy, research and health care organizations representing millions of individuals with genetic conditions. Click on the link to view information on this topic.
    • Genetics Home Reference (GHR) contains a condition summary on Charcot-Marie-Tooth disease. Click on the link to go to GHR and review this summary.
    • The Muscular Dystrophy Association has deveopled an information page titled "Surgery Sometimes, Bracing Often, Caution Always: Caring for the CMT-affected foot." Click on Muscular Dystrophy Association to view this information page.
    • MedlinePlus, a Web site designed by the National Library of Medicine Web site to help you research your health questions, provides more information about this topic. Click on the link to view this information.
    • The Merck Manuals Online Medical Library provides information on this condition. Click on the link to view the information.
    • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
    • The National Center for Biotechnology Information (NCBI) was established in 1988 as a national resource for molecular biology information.  Click on the link to view information on this topic.
    • The National Human Genome Research Institute's (NHGRI) mission encompasses a broad range of studies aimed at understanding the structure and function of the human genome and its role in health and disease. Click on the link to view the information page on this topic.
    • The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
    • Orphanet is a database dedicated to information on rare diseases and orphan drugs.  Access to this database is free of charge.  Click on the link to read information on this topic.
    • PubMed is a searchable database of medical literature and lists journal articles that discuss Charcot-Marie-Tooth disease. Click on the link to view a sample search on this topic.
  • Management Guidelines

    • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.
 
NLM Gateway (Found 1 resource)
A tool to search across multiple resources offered on the National Library of Medicine's Website

    • NLM Gateway allows users to search many resources offered on the National Library of Medicine's Web site at once to quickly find more information about this condition. Some of the resources may be a duplicate of the resources listed on this page. To search NLM Gateway, click on the link; the condition name will already be in the search box, so you can just click the “Search” button.
 Specialty Clinics/Treatment Centers | Testing | Genetic Services
Services (Found 5 resources)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories

  • Specialty Clinics/Treatment Centers

    • The Muscular Dystrophy Campain provides information regarding the Joseph Patrick Trust which provides financial support for specialist equipment. Click on the link to read more about this trust.
    • Services to enhance mobility and independent living are available in each community through the Muscular Dystrophy Association's local network of chapters and field offices. Click here to read more about this service.
    • The Muscular Dystrophy Association can help you find a doctor who knows about Charcot-Marie-Tooth disease. Click on the link to search for specialty clinics nearest you.
  • Testing

    • GeneTests lists laboratories offering clinical genetic and research genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Research genetic tests may be used to find disease-causing genes, learn how genes work, or aid in the understanding of a genetic disorder. In many cases research test results are not shared with the patient or physician. Click on GeneTests, than click “Testing” beside the subtype of interest to view a list of clinical laboratories offering testing. To view a list of laboratories offering research testing, select “Research” beside the subtype of interest. Talk to your health care provider or a genetic professional to learn more about your clinical genetic and research genetic testing options for this condition.
  • Genetic Services

    • We recommend that you discuss this information and your concerns with a genetics professional. The following online resources can help you find a genetics professional in your community:

       * GeneClinics - A searchable directory of US and international genetics and prenatal diagnosis clinics. To locate genetics clinics in the United States, go to the following link and click on 'Clinic Directory' to find a genetic service close to you. 

        * ResourceLink - A database of genetics counseling services, searchable by location, name, institution, type of practice, or specialty. Hosted by the National Society of Genetic Counselors.
 Umbrella Organizations | Disease-Specific Organizations | Live Chat/E-mail Lists | Parent Matching Organizations
Support Groups (Found 11 resources)
Groups providing a wide range of services, supportive resources, and information

  • Umbrella Organizations

  • Disease-Specific Organizations

  • Live Chat/E-mail Lists

    • The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more.
    • RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.
  • Parent Matching Organizations

 
Clinical Trials & Research (Found 2 resources)
Resources where you may find research studies and clinical trials

    • ClinicalTrials.gov lists trials that are studying or have studied Charcot-Marie-Tooth disease. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
    • The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, click on the link and enter the disease name in the "Terms Search" box. Then click "Submit Query".
      Link: http://projectreporter.nih.gov/reporter.cfm

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