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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Charcot-Marie-Tooth Association

To generate the resources to find a cure, to create awareness and to improve the quality of life for those affected by Charcot-Marie-Tooth.

Last Updated: 29 Oct 2012

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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: 15 Oct 2012

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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: 8 Mar 2010

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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
Charcot-Marie-Tooth Association

To generate the resources to find a cure, to create awareness and to improve the quality of life for those affected by Charcot-Marie-Tooth.

http://www.cmtausa.org

Last Updated: 29 Oct 2012

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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: 15 Oct 2012

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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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Logo
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: 8 Mar 2010

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

View Details

 

General Support Organizations

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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 231 free, full-text research articles on human participants. First 3 results:

A late-onset and mild form of Charcot-Marie-Tooth disease type 2 caused by a novel splice-site mutation within the Mitofusin-2 gene.
 

Author(s): Katarzyna Kotruchow, Dagmara Kabzińska, Irena Hausmanowa-Petrusewicz, Andrzej Kochański

Journal: Acta Myol. 2013 Dec;32(3):166-9.

 

Charcot-Marie-Tooth type 2A disease (CMT2A) caused by mutations in the Mitofusin 2 gene (Mfn2) has been shown to be an early-onset axonal neuropathy with severe clinical course in the majority of the patients. In this study we present a unique phenotype of CMT2A disease characterized ...

Last Updated: 7 May 2014

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Case report of a patient presenting both schizophrenia and Charcot-Marie-Tooth disease.
 

Author(s): Rym Rafrafi, Wafa Abdelaghaffar, Sami Ouanes, Imen Bekri, Wahid Melki, Zouhaier El Hechmi

Journal: Tunis Med. 2013 Dec;91(12):740-1.

 

Last Updated: 24 Jan 2014

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Segregation analysis in families with Charcot-Marie-Tooth disease allows reclassification of putative disease causing mutations.
 

Author(s): Rune Østern, Toril Fagerheim, Helene Hjellnes, Bjørn Nygård, Svein Ivar Mellgren, Øivind Nilssen

Journal:

 

The identification of disease causing, or putative disease causing, mutations in index patients with Charcot-Marie-Tooth disease (CMT) allows for genetic testing of family members. Relevant variants identified in index patients are of either definite, likely or uncertain pathogenicity. ...

Last Updated: 24 Jan 2014

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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 18 free, full-text review articles on human participants. First 3 results:

X-linked Charcot-Marie-Tooth disease.
 

Author(s): Steven S Scherer, Kleopas A Kleopa

Journal: J. Peripher. Nerv. Syst.. 2012 Dec;17 Suppl 3():9-13.

 

The X-linked form of Charcot-Marie-Tooth disease (CMT1X) is the second most common form of hereditary motor and sensory neuropathy. The clinical phenotype is characterized by progressive muscle atrophy and weakness, areflexia, and variable sensory abnormalities; central nervous system ...

Last Updated: 2 Jan 2013

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How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease?
 

Author(s): Kleopas A Kleopa, Charles K Abrams, Steven S Scherer

Journal: Brain Res.. 2012 Dec;1487():198-205.

 

The X-linked form of Charcot-Marie-Tooth disease (CMT1X) is the second most common form of hereditary motor and sensory neuropathy. The clinical phenotype is characterized by progressive weakness, atrophy, and sensory abnormalities that are most pronounced in the distal extremities. ...

Last Updated: 19 Nov 2012

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Neural and molecular features on Charcot-Marie-Tooth disease plasticity and therapy.
 

Author(s): Paula Juárez, Francesc Palau

Journal: Neural Plast.. 2012 ;2012():171636.

 

In the peripheral nervous system disorders plasticity is related to changes on the axon and Schwann cell biology, and the synaptic formations and connections, which could be also a focus for therapeutic research. Charcot-Marie-Tooth disease (CMT) represents a large group of inherited ...

Last Updated: 29 Jun 2012

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Treadmill, Stretching and Proprioceptive Exercise (TreSPE) Rehabilitation Program for Charcot−Marie−Tooth Neuropathy Type 1A (CMT1A)
 

Status: Not yet recruiting

Condition Summary: Charcot-Marie-Tooth Disease; Charcot-Marie-Tooth Disease Type 1A

 

Last Updated: 3 Feb 2011

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Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and Others
 

Status: Recruiting

Condition Summary: Charcot Marie Tooth Disease

 

Last Updated: 25 Mar 2014

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Last Updated: 13 Dec 2012

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