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
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.
- Charcot-Marie-Tooth disease. Genetics Home Reference (GHR). January 2010; http://ghr.nlm.nih.gov/condition/charcot-marie-tooth-disease. Accessed 6/3/2011.
- Bird, TD. Charcot-Marie-Tooth Neuropathy Type 2. GeneReviews. March 2011; http://www.ncbi.nlm.nih.gov/books/NBK1285/. Accessed 6/3/2011.
- 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.
- 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.
- The Online Mendelian Inheritance in Man (OMIM) is an 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.