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

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
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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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: 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

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

An exploratory randomised double-blind and placebo-controlled phase 2 study of a combination of baclofen, naltrexone and sorbitol (PXT3003) in patients with Charcot-Marie-Tooth disease type 1A.
 

Author(s): Shahram Attarian, Jean-Michel Vallat, Laurent Magy, Benoît Funalot, Pierre-Marie Gonnaud, Arnaud Lacour, Yann Péréon, Odile Dubourg, Jean Pouget, Joëlle Micallef, Jérôme Franques, Marie-Noëlle Lefebvre, Karima Ghorab, Mahmoud Al-Moussawi, Vincent Tiffreau, Marguerite Preudhomme, Armelle Magot, Laurène Leclair-Visonneau, Tanya Stojkovic, Laura Bossi, Philippe Lehert, Walter Gilbert, Viviane Bertrand, Jonas Mandel, Aude Milet, Rodolphe Hajj, Lamia Boudiaf, Catherine Scart-Grès, Serguei Nabirotchkin, Mickael Guedj, Ilya Chumakov, Daniel Cohen

Journal:

 

Charcot-Marie-Tooth type 1A disease (CMT1A) is a rare orphan inherited neuropathy caused by an autosomal dominant duplication of a gene encoding for the structural myelin protein PMP22, which induces abnormal Schwann cell differentiation and dysmyelination, eventually leading to axonal ...

Last Updated: 5 Feb 2015

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Identification of a novel SBF2 frameshift mutation in charcot-marie-tooth disease type 4B2 using whole-exome sequencing.
 

Author(s): Meiyan Chen, Jing Wu, Ning Liang, Lihui Tang, Yanhua Chen, Huishuang Chen, Wei Wei, Tianying Wei, Hui Huang, Xin Yi, Ming Qi

Journal: Genomics Proteomics Bioinformatics. 2014 Oct;12(5):221-7.

 

Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma (CMT4B2, OMIM 604563) is a genetically-heterogeneous childhood-onset neuromuscular disorder. Here, we report the case of a 15-year-old male adolescent with lower extremity weakness, gait abnormalities, foot deformities ...

Last Updated: 29 Jan 2015

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Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.
 

Author(s): Ellen Cottenie, Andrzej Kochanski, Albena Jordanova, Boglarka Bansagi, Magdalena Zimon, Alejandro Horga, Zane Jaunmuktane, Paola Saveri, Vedrana Milic Rasic, Jonathan Baets, Marina Bartsakoulia, Rafal Ploski, Pawel Teterycz, Milos Nikolic, Ros Quinlivan, Matilde Laura, Mary G Sweeney, Franco Taroni, Michael P Lunn, Isabella Moroni, Michael Gonzalez, Michael G Hanna, Conceicao Bettencourt, Elodie Chabrol, Andre Franke, Katja von Au, Markus Schilhabel, Dagmara Kabzińska, Irena Hausmanowa-Petrusewicz, Sebastian Brandner, Siew Choo Lim, Haiwei Song, Byung-Ok Choi, Rita Horvath, Ki-Wha Chung, Stephan Zuchner, Davide Pareyson, Matthew Harms, Mary M Reilly, Henry Houlden

Journal: Am. J. Hum. Genet.. 2014 Nov;95(5):590-601.

 

Using a combination of exome sequencing and linkage analysis, we investigated an English family with two affected siblings in their 40s with recessive Charcot-Marie Tooth disease type 2 (CMT2). Compound heterozygous mutations in the immunoglobulin-helicase-μ-binding protein 2 (IGHMBP2) ...

Last Updated: 2 Dec 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 19 free, full-text review articles on human participants. First 3 results:

Charcot-Marie-Tooth disease, psychiatric indicators and quality of life: a systematic review.
 

Author(s): Joana L C Cordeiro, Wilson Marques, Jaime E C Hallak, Flávia L Osório

Journal:

 

This study is aimed to conduct a systematic literature review regarding the associations between psychiatric symptoms, functional impairments, and quality of life in patients with CMT (Charcot-Marie-Tooth). The PUBMED, PsycInfo, SCIELO, and LILACS electronic databases were used, and ...

Last Updated: 28 May 2014

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PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies.
 

Author(s): Barbara W van Paassen, Anneke J van der Kooi, Karin Y van Spaendonck-Zwarts, Camiel Verhamme, Frank Baas, Marianne de Visser

Journal:

 

PMP22 related neuropathies comprise (1) PMP22 duplications leading to Charcot-Marie-Tooth disease type 1A (CMT1A), (2) PMP22 deletions, leading to Hereditary Neuropathy with liability to Pressure Palsies (HNPP), and (3) PMP22 point mutations, causing both phenotypes. Overall prevalence ...

Last Updated: 25 Mar 2014

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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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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: 14 May 2015

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Development of Charcot Marie Tooth Disease (CMT) Pediatric Scale for Children With CMT
 

Status: Recruiting

Condition Summary: Charcot Marie Tooth Disease

 

Last Updated: 14 May 2015

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