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

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

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Abnormality of the pharynx	Very frequent (present in 80%-99% of cases)
Abnormality of the voice	Very frequent (present in 80%-99% of cases)
Ataxia	Very frequent (present in 80%-99% of cases)
Decreased nerve conduction velocity	Very frequent (present in 80%-99% of cases)
Distal amyotrophy	Very frequent (present in 80%-99% of cases)
EMG abnormality	Very frequent (present in 80%-99% of cases)
Gait disturbance	Very frequent (present in 80%-99% of cases)
Impaired pain sensation	Very frequent (present in 80%-99% of cases)
Kyphosis	Very frequent (present in 80%-99% of cases)
Laryngomalacia	Very frequent (present in 80%-99% of cases)
Paralysis	Very frequent (present in 80%-99% of cases)
Scoliosis	Very frequent (present in 80%-99% of cases)

Last updated: 10/1/2017

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

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.
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.

Do you have updated information on this condition? Let us know.

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 studying or have studied 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: 800-606-2682
Telephone: 610-499-9264
Fax: 610-499-9267
E-mail: info@cmtusa.org
Website: http://www.cmtausa.org/
Charcot-Marie-Tooth Association of Australia
Website: http://www.cmt.org.au/
CMT United Kingdom
3 Groveley Road
Christchurch, Dorset BH23 3HB
United Kingdom
Toll-free: 0800 6526312
Telephone: 01202 474203
E-mail: enquiries@cmt.org.uk
Website: http://www.cmt.org.uk
Hereditary Neuropathy Foundation Inc.
401 Park Avenue, 10th Floor
New York, NY 10016
Toll-free: 855-435-7268
Telephone: 212-722-8396
E-mail: info@hnf-cure.org
Website: http://www.hnf-cure.org/
Muscular Dystrophy Association (MDA)
222 S Riverside Plaza
Suite 1500
Chicago, IL 60606
Toll-free: 800-572-1717
TTY: 1-800-572-1717
E-mail: mda@mdausa.org
Website: http://www.mdausa.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: http://www.musculardystrophyuk.org/

Do you know of an organization? Send us your suggestions.

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.

Healthcare Resources

The Charcot-Marie-Tooth Association (CMTA) has a "Resource Search" section on its Web site, 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 Campaign provides information regarding the Joseph Patrick Trust which provides financial support for specialist equipment. Click on the link to read more about this trust.
The Neuropathy Association has a Physicians Directory that lists neurologists and other physicians with expertise or expressed interest in caring for patients with peripheral neuropathy. This list is provided by The Neuropathy Association as a service to its members who have difficulty in locating a physician in their area who is knowledgeable about peripheral neuropathy and neuropathy treatment options. To search The Neuropathy Association's Physician Directory, click here.

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

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

Don’t Miss the NCATS Toolkit for Patient-Focused Therapy Development Event
August 31, 2017
Funding Opportunities Now Available for the Undiagnosed Diseases Network (UDN) Phase II
August 30, 2017
IRDiRC Goals 2017-2027: New Rare Disease Research Goals for the Next Decade
August 10, 2017

Related Diseases Related Diseases

The following diseases are related to Charcot-Marie-Tooth disease. If you have a question about any of these diseases, you can contact GARD.

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
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

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

I am trying to find a doctor in my area that knows something about pain management for my disease. See answer
Is there a link between pain medication prescribed for Charcot-Marie-Tooth disease (CMT), such as oxycodone, and vision loss? See answer
What kind of vision loss is associated with Charcot-Marie-Tooth disease? See answer
Have you heard anything regarding experimental stem cell or gene therapy for Charcot-Marie-Tooth disease? I would be interested in participating in experimental treatment. See answer
Can Charcot-Marie-Tooth disease cause a paralyzed vocal fold or a paralyzed laryngeal nerve? See answer