Charcot-Marie-Tooth disease

Información en español Title

Other Names:

CMT; Hereditary motor and sensory neuropathy; HMSN; CMT; Hereditary motor and sensory neuropathy; HMSN; Charcot Marie Tooth disease See More

Categories:

Nervous System Diseases

Subtypes:

Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons; Autosomal dominant intermediate Charcot-Marie-Tooth disease type A; Autosomal dominant intermediate Charcot-Marie-Tooth disease type B; Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons; Autosomal dominant intermediate Charcot-Marie-Tooth disease type A; Autosomal dominant intermediate Charcot-Marie-Tooth disease type B; Autosomal dominant intermediate Charcot-Marie-Tooth disease type C; Autosomal dominant intermediate Charcot-Marie-Tooth disease type D; Autosomal dominant intermediate Charcot-Marie-Tooth disease type E; Autosomal dominant intermediate Charcot-Marie-Tooth disease type F; Autosomal recessive axonal neuropathy with neuromyotonia; Charcot-Marie-Tooth disease type 1; Charcot-Marie-Tooth disease type 1A; Charcot-Marie-Tooth disease type 1B; Charcot-Marie-Tooth disease type 1C; Charcot-Marie-Tooth disease type 1D; Charcot-Marie-Tooth disease type 1E; Charcot-Marie-Tooth disease type 1F; Charcot-Marie-Tooth disease type 2; Charcot-Marie-Tooth disease type 2A; Charcot-Marie-Tooth disease type 2B; Charcot-Marie-Tooth disease type 2B1; Charcot-Marie-Tooth disease type 2B2; Charcot-Marie-Tooth disease type 2C; Charcot-Marie-Tooth disease type 2D; Charcot-Marie-Tooth disease type 2E; Charcot-Marie-Tooth disease type 2F; Charcot-Marie-Tooth disease type 2G; Charcot-Marie-Tooth disease type 2H; Charcot-Marie-Tooth disease type 2I; Charcot-Marie-Tooth disease type 2J; Charcot-Marie-Tooth disease type 2K; Charcot-Marie-Tooth disease type 2L; Charcot-Marie-Tooth disease type 2N; Charcot-Marie-Tooth disease type 2O; Charcot-Marie-Tooth disease type 2P; Charcot-Marie-Tooth disease type 2Q; Charcot-Marie-Tooth disease type 4; Charcot-Marie-Tooth disease type 4A; Charcot-Marie-Tooth disease type 4B1; Charcot-Marie-Tooth disease type 4B2; Charcot-Marie-Tooth disease type 4C; Charcot-Marie-Tooth disease type 4D; Charcot-Marie-Tooth disease type 4E; Charcot-Marie-Tooth disease type 4F; Charcot-Marie-Tooth disease type 4H; Charcot-Marie-Tooth disease type 4J; Hereditary motor and sensory neuropathy type 5; Hypertrophic neuropathy of Dejerine-Sottas; Neuropathy, hereditary motor and sensory, Russe type; Roussy Levy syndrome; X-linked Charcot-Marie-Tooth disease; X-linked Charcot-Marie-Tooth disease type 1; X-linked Charcot-Marie-Tooth disease type 2; X-linked Charcot-Marie-Tooth disease type 3; X-linked Charcot-Marie-Tooth disease type 4; X-linked Charcot-Marie-Tooth disease type 5; X-linked Charcot-Marie-Tooth disease type 6 See More

This disease is grouped under:

Hereditary motor and sensory neuropathy

Summary Summary

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 many different 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.

Last updated: 3/1/2016

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Abnormality of the pharynx		0000600
Abnormality of the voice	Voice abnormality	0001608
Ataxia		0001251
Decreased nerve conduction velocity		0000762
Distal amyotrophy	Distal muscle wasting	0003693
EMG abnormality		0003457
Gait disturbance	Abnormal gait Abnormal walk Impaired gait [ more ]	0001288
Impaired pain sensation	Decreased pain sensation	0007328
Kyphosis	Hunched back Round back [ more ]	0002808
Laryngomalacia	Softening of voice box tissue	0001601
Paralysis	Inability to move	0003470
Reduced tendon reflexes		0001315
Scoliosis	Abnormal curving of the spine	0002650

Showing of 13 |

Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 2/1/2020

Do you have updated information on this disease? We want to hear from you.

Treatment Treatment

The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.

Management Guidelines

Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety.

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

The Charcot-Marie-Tooth Association (CMTA) has a "Resource Search" section on its website, which can be used to find physicians and other state and national resources. It also has extended search options which can be used to narrow down your search to a specified distance from a particular zip code. To perform a resource search on the CMTA's Web site, click here.
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.
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 UK provides information regarding the Joseph Patrick Trust which provides financial support for specialist equipment. Click on the link to read more about this trust.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are related to Charcot-Marie-Tooth disease. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
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, enter the disease name in the "Text Search" box. Then click "Submit Query".

Patient Registry

The Inherited Neuropathies Consortium is a team of doctors, nurses, research coordinators, and research labs throughout the U.S., working together to improve the lives of people with Charcot Marie Tooth disease through research. The Inherited Neuropathies Consortium has a registry for patients who wish to be contacted about clinical research opportunities.

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Charcot-Marie-Tooth Association
PO Box 105
Glenolden, PA 19036
Toll-free: 1-800-606-2682
Telephone: +1-610-499-9264
Fax: +1-610-499-9267
E-mail: info@cmtusa.org
Website: https://www.cmtausa.org/
Charcot-Marie-Tooth Association Australia Inc.
Building 22
Concord Hospital
Concord, NSW, 2139 Australia
Telephone: (02) 9767 5105
E-mail: cmtaa2@cmt.org.au
Website: https://www.cmt.org.au
Charcot-Marie-Tooth UK (CMT UK)
3 Groveley Road
Christchurch, Dorset BH23 3HB
United Kingdom
Telephone: 0300 323 6316
E-mail: enquiries@cmt.org.uk
Website: https://www.cmt.org.uk/
Hereditary Neuropathy Foundation Inc.
401 Park Avenue, 10th Floor
New York, NY 10016
Toll-free: 1-855-435-7268
Telephone: +1-212-722-8396
Fax: +1-917-591-2758
E-mail: info@hnf-cure.org
Website: https://www.hnf-cure.org/
Muscular Dystrophy Association (MDA)
222 S Riverside Plaza
Suite 1500
Chicago, IL 60606
Toll-free: 1-833-275-6321 (Helpline)
E-mail: resourcecenter@mdausa.org
Website: https://www.mda.org
Muscular Dystrophy UK
61A Great Suffolk Street
London, SE1 0BU United Kingdom
Toll-free: 0800 652 6352 (Helpline)
Telephone: (+44) 0 020 7803 4800
E-mail: info@musculardystrophyuk.org
Website: https://www.musculardystrophyuk.org/

Do you know of an organization? We want to hear from you.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Community Resources

The Job Accommodation Network (JAN) has information on workplace accommodations and disability employment issues related to this condition. JAN is a service of the Office of Disability Employment Policy in the U.S. Department of Labor.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

Genetics Home Reference (GHR) contains information on Charcot-Marie-Tooth disease. This website is maintained by the National Library of Medicine.
The Muscular Dystrophy Association has developed an information page entitled "Surgery Sometimes, Bracing Often, Caution Always: Caring for the CMT-affected Foot." Click on Muscular Dystrophy Association to view this information page.
MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
The National Human Genome Research Institute's (NHGRI) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.
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.

In-Depth Information

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.
Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
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 Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
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.

News & Events News & Events

News

CMT1A Research Breakthrough!
December 6, 2017

GARD Answers GARD Answers

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