Charcot-Marie-Tooth Disease Type 2C

Common Name(s)

Charcot-Marie-Tooth Disease Type 2C, Distal hereditary motor neuronopathy type 2C

Charcot-Marie-Tooth disease (CMT) is a group of progressive disorders that affect the peripheral nerves and result in problems with movement and sensation. In CMT type 2 (CMT2), the motor system is more prominently involved than the sensory system, although both are involved. Individuals with this condition typically have slowly progressive weakness and atrophy of distal muscles in the feet and/or hands usually associated with depressed tendon reflexes and mild or no sensory loss. There is significant clinical overlap with CMT1. The subtypes of CMT2 are similar clinically and distinguished only by molecular genetic findings.   

Charcot-Marie-Tooth disease type 2C (CMT2C) is a very rare form of CMT. Individuals with this condition may have diaphragm or vocal cord paresis in addition to the other problems associated with CMT.  Mild sensory loss has also been noted in some individuals. CMT type 2C is caused by mutations in the TRPV4 gene on chromosome 12q24.

 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Charcot-Marie-Tooth Disease Type 2C" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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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 Type 2C" returned 1 free, full-text research articles on human participants. First 3 results:

Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.
 

Author(s): Guida Landouré, Anselm A Zdebik, Tara L Martinez, Barrington G Burnett, Horia C Stanescu, Hitoshi Inada, Yijun Shi, Addis A Taye, Lingling Kong, Clare H Munns, Shelly S Choo, Christopher B Phelps, Reema Paudel, Henry Houlden, Christy L Ludlow, Michael J Caterina, Rachelle Gaudet, Robert Kleta, Kenneth H Fischbeck, Charlotte J Sumner

Journal: Nat. Genet.. 2010 Feb;42(2):170-4.

 

Charcot-Marie-Tooth disease type 2C (CMT2C) is an autosomal dominant neuropathy characterized by limb, diaphragm and laryngeal muscle weakness. Two unrelated families with CMT2C showed significant linkage to chromosome 12q24.11. We sequenced all genes in this region and identified ...

Last Updated: 27 Jan 2010

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Reviews from the PubMed Database

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The terms "Charcot-Marie-Tooth Disease Type 2C" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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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