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Genetic and Rare Diseases Information Center (GARD)

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Charcot-Marie-Tooth disease type 2C


Other Names for this Disease

  • Charcot Marie Tooth disease type 2C
  • Charcot-Marie-Tooth disease, axonal, Type 2C
  • CMT 2C
  • Hereditary motor and sensory neuropathy 2 C
  • HMSN 2 C
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Overview

Charcot-Marie-Tooth disease (CMT) is a group of progressive disorders that affect the peripheral nerves and result in problems with movement and sensation. [1] 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.[2]  

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.[2][3] Mild sensory loss has also been noted in some individuals.[2] CMT type 2C is caused by mutations in the TRPV4 gene on chromosome 12q24.[2][3]

Last updated: 6/3/2011

References

  1. Charcot-Marie-Tooth disease. Genetics Home Reference (GHR). January 2010; http://ghr.nlm.nih.gov/condition/charcot-marie-tooth-disease. Accessed 6/3/2011.
  2. Bird, TD. Charcot-Marie-Tooth Neuropathy Type 2. GeneReviews. March 2011; http://www.ncbi.nlm.nih.gov/books/NBK1285/. Accessed 6/3/2011.
  3. Types and Causes of CMT . Charcot-Marie-Tooth Association Resource Center. October 2010; http://www.cmtausa.org/index.php?option=com_content&view=article&id=75&catid=10&Itemid=51. Accessed 6/3/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Charcot-Marie-Tooth disease type 2C. This website is maintained by the National Library of Medicine.
  • The Muscular Dystrophy Association has deveopled an information page titled "Surgery Sometimes, Bracing Often, Caution Always: Caring for the CMT-affected foot." Click on Muscular Dystrophy Association to view this information page.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Charcot-Marie-Tooth disease type 2C. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Charcot Marie Tooth disease type 2C
  • Charcot-Marie-Tooth disease, axonal, Type 2C
  • CMT 2C
  • Hereditary motor and sensory neuropathy 2 C
  • HMSN 2 C
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.