Charcot-Marie-Tooth disease type 2C
- CMT 2C
- Charcot-Marie-Tooth disease, axonal, Type 2C
- Hereditary motor and sensory neuropathy 2 C
- HMSN 2 C
- Charcot Marie Tooth disease type 2C
Your QuestionMy wife has Charcot-Marie-Tooth disease type 2C. What is the prognosis for individuals with this condition?
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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.
- Hereditary Motor and Sensory Neuropathy, Type IIC; HMSN2C. Online Mendelian Inheritance In Man (OMIM). March 2010; http://www.ncbi.nlm.nih.gov/omim/606071. Accessed 6/3/2011.