Charcot-Marie-Tooth disease type 2B
Other Names for this Disease
- CMT 2B
- Charcot-Marie-Tooth disease, axonal, Type 2B
- Charcot-Marie-Tooth disease, neuronal, Type 2B
- Hereditary motor and sensory neuropathy 2 B (HMSN 2 B)
- Peripheral sensory neuropathy, autosomal dominant (PSN)
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CMT type 1. CMT2B is caused by changes in the RAB7A gene. It is inherited in an autosomal dominant fashion.Charcot-Marie-Tooth disease type 2B (CMT2B) affects the peripheral nerves, the nerves running from outside the brain and spine. Common signs and symptoms include slowly progressive weakness and numbness in the feet, lower leg muscles, hands, and forearms. This type of CMT is also associated with the formation of ulcers in the hands and feet. Symptoms may start in childhood to early adulthood, although later onset (>50 years) has also been described. Symptoms of CMT2B vary but tend to be similar to that of
Last updated: 9/9/2013
- Bird TD. Charcot-Marie-Tooth Neuropathy Type 2. GeneReviews. September 24, 1998; http://www.ncbi.nlm.nih.gov/books/NBK1285/?report=printable. Accessed 9/9/2013.
- The Muscular Dystrophy Association has developed an information page entitled "Surgery Sometimes, Bracing Often, Caution Always: Caring for the CMT-affected Foot." Click on Muscular Dystrophy Association to view this information page.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Charcot-Marie-Tooth disease type 2B. Click on the link to view a sample search on this topic.