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Genetic and Rare Diseases Information Center (GARD)

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Charcot-Marie-Tooth disease type 2B


Other Names for this Disease
  • Autosomal dominant Charcot-Marie-Tooth disease type 2B
  • Charcot Marie Tooth disease type 2B
  • Charcot-Marie-Tooth disease, axonal, Type 2B
  • Charcot-Marie-Tooth disease, neuronal, Type 2B
  • CMT 2B
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Overview

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 CMT type 1. CMT2B is caused by changes in the RAB7A gene. It is inherited in an autosomal dominant fashion.[1]
Last updated: 9/9/2013

References

  1. 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.
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Basic Information

  • 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.

In Depth Information

  • 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.
Other Names for this Disease
  • Autosomal dominant Charcot-Marie-Tooth disease type 2B
  • Charcot Marie Tooth disease type 2B
  • Charcot-Marie-Tooth disease, axonal, Type 2B
  • Charcot-Marie-Tooth disease, neuronal, Type 2B
  • CMT 2B
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.