Charcot-Marie-Tooth Disease

Common Name(s)

Charcot-Marie-Tooth Disease, Hereditary motor and sensory neuropathy

Charcot-Marie-Tooth disease is a group of disorders that affect the peripheral nerves, the nerves running from outside the brain and spine. Defects in at least 30 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, Òslapping" gait (feet hit the floor hard when walking), and weakness of the hips, legs, or feet. 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.

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.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Charcot-Marie-Tooth Disease" for support, advocacy or research.

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Ben's Friends

Our mission is to ensure that everyone in the world with a rare disease has a safe place to go and connect with others like them.

Last Updated: 11 Jul 2016

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Charcot-Marie-Tooth Association

Our mission ... to support the development of new drugs to treat CMT, to improve the quality of life for people with CMT, and, ultimately, to find a cure. Our vision ... a world without CMT.

Last Updated: 27 Apr 2015

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CMT United Kingdom

CMT United Kingdom is working to support those affected by Charcot-Marie-Tooth Disease, also known as Hereditary Motor and Sensory Neuropathy.

Last Updated: 10 Feb 2015

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Hereditary Neuropathy Foundation

HNF's mission is to find treatments that will halt, reverse and ultimately cure Charcot-Marie-Tooth. Our Therapeutic Research In Accelerated Discovery (TRIAD) is a collaborative effort involving academia, government, and industry, to develop treatments for CMT. Currently TRIAD is a consortia that spans the drug discovery, drug development, and diagnostic continuum.

Last Updated: 8 Apr 2014

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Muscular Dystrophy Association

MDA is the nonprofit health agency dedicated to curing muscular dystrophy, ALS and related diseases by funding worldwide research. The Association also provides comprehensive health care and support services, advocacy and education.

Last Updated: 15 Jul 2015

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Neuromuscular Disease Association of China

There are over 40 different types of Muscular Dystrophy and related Neuromuscular conditions.These conditions are characterised by loss of muscular strength,as progressive muscle wasting or nerve

Last Updated: 21 May 2010

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General Support Organizations

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How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Charcot-Marie-Tooth Disease" for support, advocacy or research.

Logo
Ben's Friends

Our mission is to ensure that everyone in the world with a rare disease has a safe place to go and connect with others like them.

http://www.bensfriends.org

Last Updated: 11 Jul 2016

View Details
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Charcot-Marie-Tooth Association

Our mission ... to support the development of new drugs to treat CMT, to improve the quality of life for people with CMT, and, ultimately, to find a cure. Our vision ... a world without CMT.

http://www.cmtausa.org

Last Updated: 27 Apr 2015

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CMT United Kingdom

CMT United Kingdom is working to support those affected by Charcot-Marie-Tooth Disease, also known as Hereditary Motor and Sensory Neuropathy.

http://www.cmt.org.uk

Last Updated: 10 Feb 2015

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Hereditary Neuropathy Foundation

HNF's mission is to find treatments that will halt, reverse and ultimately cure Charcot-Marie-Tooth. Our Therapeutic Research In Accelerated Discovery (TRIAD) is a collaborative effort involving academia, government, and industry, to develop treatments for CMT. Currently TRIAD is a consortia that spans the drug discovery, drug development, and diagnostic continuum.

http://www.hnf-cure.org

Last Updated: 8 Apr 2014

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Muscular Dystrophy Association

MDA is the nonprofit health agency dedicated to curing muscular dystrophy, ALS and related diseases by funding worldwide research. The Association also provides comprehensive health care and support services, advocacy and education.

http://www.mdausa.org

Last Updated: 15 Jul 2015

View Details
Neuromuscular Disease Association of China

There are over 40 different types of Muscular Dystrophy and related Neuromuscular conditions.These conditions are characterised by loss of muscular strength,as progressive muscle wasting or nerve

http://www.mdachina.org

Last Updated: 21 May 2010

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General Resources

What is CMT

A Basic leaflet about CMT

Uploaded By: CMT United Kingdom

Updated 15 Oct 2012

Open Doc
Essential Guide: What It's Like to Live With CMT

We hope this will give you the insight that you are not alone. Our goal was to delve deeper into the world of CMT and to paint a vivid picture of some of the emotional, spiritual and psychological challenges that accompany living with CMT.

Updated 12 Nov 2013

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Charcot-Marie-Tooth Disease" returned 293 free, full-text research articles on human participants. First 3 results:

MFN2 agonists reverse mitochondrial defects in preclinical models of Charcot-Marie-Tooth disease type 2A.
 

Author(s): Agostinho G Rocha, Antonietta Franco, Andrzej M Krezel, Jeanne M Rumsey, Justin M Alberti, William C Knight, Nikolaos Biris, Emmanouil Zacharioudakis, James W Janetka, Robert H Baloh, Richard N Kitsis, Daria Mochly-Rosen, R Reid Townsend, Evripidis Gavathiotis, Gerald W Dorn

Journal: Science. 2018 04;360(6386):336-341.

 

Mitofusins (MFNs) promote fusion-mediated mitochondrial content exchange and subcellular trafficking. Mutations in cause neurodegenerative Charcot-Marie-Tooth disease type 2A (CMT2A). We showed that MFN2 activity can be determined by Met and His interactions with Asp and Leu and ...

Last Updated: 31 Dec 1969

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X-linked Charcot-Marie-Tooth disease with GJB1 mutation presenting as acute disseminated encephalomyelitis-like illness: A case report.
 

Author(s): Jin Kyu Kim, Seung-A Han, Sun Jun Kim

Journal: Medicine (Baltimore). 2017 Dec;96(49):e9176.

 

Charcot-Marie-Tooth disease (CMT) is typically an autosomal dominant, inherited neuropathy, although there is a rare male X-linked CMT. Such patients show central nervous system (CNS) involvement in addition to peripheral neuropathy. Recently, we encountered a patient who presented ...

Last Updated: 31 Dec 1969

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Charcot-Marie-Tooth disease in Denmark: a nationwide register-based study of mortality, prevalence and incidence.
 

Author(s): Signe Vaeth, Michael Vaeth, Henning Andersen, Rikke Christensen, Uffe Birk Jensen

Journal:

 

Charcot-Marie-Tooth disease (CMT) is the most common inherited disorder of the peripheral nervous system, yet no studies have compared the mortality in patients with CMT with that of the general population, and prevalence estimates vary considerably. We performed a nationwide register-based ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Charcot-Marie-Tooth Disease" returned 24 free, full-text review articles on human participants. First 3 results:

Vocal cord paralysis in Charcot-Marie-Tooth type 4b1 disease associated with a novel mutation in the myotubularin-related protein 2 gene: A case report and review of the literature.
 

Author(s): Alberto Andrea Zambon, Maria Grazia Natali Sora, Giovanna Cantarella, Federica Cerri, Angelo Quattrini, Giancarlo Comi, Stefano Carlo Previtali, Alessandra Bolino

Journal: Neuromuscul. Disord.. 2017 May;27(5):487-491.

 

Charcot-Marie-Tooth type 4B1 (CMT4B1) is an autosomal recessive motor and sensory demyelinating neuropathy characterized by the association of early-onset neurological symptoms and typical histological findings. The natural history and the clinical variability of the disease are still ...

Last Updated: 31 Dec 1969

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Presynaptic Deficits at Neuromuscular Junctions: A Specific Cause and Potential Target of Axonal Neuropathy in Type 2 Charcot-Marie-Tooth Disease.
 

Author(s): Gursimran Chandhok, Ming Shiuan Soh

Journal: J. Neurosci.. 2016 08;36(31):8067-9.

 

Last Updated: 31 Dec 1969

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Epidemiologic Study of Charcot-Marie-Tooth Disease: A Systematic Review.
 

Author(s): Lidiane Carine Lima Santos Barreto, Fernanda Santos Oliveira, Paula Santos Nunes, Iandra Maria Pinheiro de França Costa, Catarina Andrade Garcez, Gabriel Mattos Goes, Eduardo Luis Aquino Neves, Jullyana de Souza Siqueira Quintans, Adriano Antunes de Souza Araújo

Journal: Neuroepidemiology. 2016 ;46(3):157-65.

 

Charcot-Marie-Tooth disease (CMT) is the most common inherited neuropathy. CMT is classified into 2 main subgroups: CMT type 1 (CMT1; demyelinating form) and CMT type 2 (CMT2; axonal form). The objectives of this study were to systematically review and assess the quality of studies ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Charcot-Marie-Tooth Disease (CMT) Infant Scale (INC-6611)
 

Status: Recruiting

Condition Summary: Charcot-Marie-Tooth Disease

 

Last Updated: 29 Nov 2016

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Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease
 

Status: Recruiting

Condition Summary: Charcot-Marie-Tooth Disease

 

Last Updated: 5 Sep 2018

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Assessing Long Term Safety and Tolerability of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A
 

Status: Recruiting

Condition Summary: Charcot-Marie-Tooth Disease, Type IA

 

Last Updated: 4 May 2018

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