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

ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.
 

Author(s): Celeste Montecchiani, Lucia Pedace, Temistocle Lo Giudice, Antonella Casella, Marzia Mearini, Fabrizio Gaudiello, José L Pedroso, Chiara Terracciano, Carlo Caltagirone, Roberto Massa, Peter H St George-Hyslop, Orlando G P Barsottini, Toshitaka Kawarai, Antonio Orlacchio

Journal: Brain. 2016 Jan;139(Pt 1):73-85.

 

Charcot-Marie-Tooth disease is a group of hereditary peripheral neuropathies that share clinical characteristics of progressive distal muscle weakness and atrophy, foot deformities, distal sensory loss, as well as diminished tendon reflexes. Hundreds of causative DNA changes have ...

Last Updated: 9 Jan 2016

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Charcot-Marie-Tooth disease: New insights from skin biopsy.
 

Author(s): Fiore Manganelli, Maria Nolano, Chiara Pisciotta, Vincenzo Provitera, Gian M Fabrizi, Tiziana Cavallaro, Annamaria Stancanelli, Giuseppe Caporaso, Michael E Shy, Lucio Santoro

Journal: Neurology. 2015 Oct;85(14):1202-8.

 

To evaluate, by skin biopsy, dermal nerve fibers in 31 patients with 3 common Charcot-Marie-Tooth (CMT) genotypes (CMT1A, late-onset CMT1B, and CMTX1), and rarer forms of CMT caused by mutations in RAB7 (CMT2B), TRPV4 (CMT2C), and GDAP1 (AR-CMT2K) genes.

Last Updated: 6 Oct 2015

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Two Novel De Novo GARS Mutations Cause Early-Onset Axonal Charcot-Marie-Tooth Disease.
 

Author(s): Yi-Chu Liao, Yo-Tsen Liu, Pei-Chien Tsai, Chia-Ching Chang, Yen-Hua Huang, Bing-Wen Soong, Yi-Chung Lee

Journal:

 

Mutations in the GARS gene have been identified in a small number of patients with Charcot-Marie-Tooth disease (CMT) type 2D or distal spinal muscular atrophy type V, for whom disease onset typically occurs during adolescence or young adulthood, initially manifesting as weakness and ...

Last Updated: 6 Aug 2015

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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 21 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 Genetics Home Reference.

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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Mexiletine for Muscle Cramps in Charcot Marie Tooth Disease
 

Status: Recruiting

Condition Summary: Charcot Marie Tooth Disease

 

Last Updated: 24 May 2016

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