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

Rapid Identification of Pathogenic Variants in Two Cases of Charcot-Marie-Tooth Disease by Gene-Panel Sequencing.
 

Author(s): Chi-Chun Ho, Shuk-Mui Tai, Edmond Chi-Nam Lee, Timothy Shin-Heng Mak, Timothy Kam-Tim Liu, Victor Wai-Lun Tang, Wing-Tat Poon

Journal:

 

Charcot-Marie-Tooth disease (CMT) is a common inherited peripheral neuropathy affecting up to 1 in 1214 of the general population with more than 60 nuclear genes implicated in its pathogenesis. Traditional molecular diagnostic pathways based on relative prevalence and clinical phenotyping ...

Last Updated: 5 Apr 2017

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[Tailored orthotic shoes in Charcot-Marie-Tooth disease].
 

Author(s): Patrick Sautreuil, Michèle Mane, Besma Missaoui, Samy Bendaya, Philippe Thoumie

Journal: Med Sci (Paris). 2016 Nov;32 Hors série n°2():17-21.

 

Last Updated: 21 Nov 2016

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Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel.
 

Author(s): Sharon Aharoni, Katy E S Barwick, Rachel Straussberg, Gaurav V Harlalka, Yoram Nevo, Barry A Chioza, Meriel M McEntagart, Aviva Mimouni-Bloch, Michael Weedon, Andrew H Crosby

Journal:

 

CMT-2 is a clinically and genetically heterogeneous group of peripheral axonal neuropathies characterized by slowly progressive weakness and atrophy of distal limb muscles resulting from length-dependent motor and sensory neurodegeneration. Classical giant axonal neuropathy (GAN) ...

Last Updated: 17 Nov 2016

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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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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: 19 Jul 2017

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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: 13 Apr 2017

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