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Genetic and Rare Diseases Information Center (GARD)

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Charcot-Marie-Tooth disease type 2F


Other Names for this Disease

  • Charcot Marie Tooth disease type 2F
  • Charcot-Marie-Tooth disease, axonal, Type 2F
  • Charcot-Marie-Tooth disease, neuronal, Type 2F
  • Charcot-Marie-Tooth neuropathy, type 2F
  • CMT 2F
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Overview

Charcot-Marie-Tooth disease type 2F (CMT2F) is a genetic disorder of the peripheral nerves. The subtypes of CMT type 2 (including type 2F) have similar features and are distinguished only by their disease-causing genes. Signs and symptoms usually begin between the ages of 5 and 25 and typically include slowly progressive weakness and atrophy of distal muscles in the feet and/or hands, usually associated with decreased tendon reflexes and mild or no sensory loss. Nerve conduction velocities are usually normal or near-normal. CMT2F is caused by mutations in the HSPB1 gene and is inherited in an autosomal dominant manner. Management may include occupational and physical therapy; special shoes; surgery as needed; mobility aids; and other supportive treatments.[1]
Last updated: 7/31/2012

References

  1. Thomas D. Bird. Charcot-Marie-Tooth Neuropathy Type 2. GeneReviews. July 5, 2012; http://www.ncbi.nlm.nih.gov/books/NBK1285/. Accessed 7/31/2012.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Charcot-Marie-Tooth disease type 2F. 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 National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

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 2F. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Charcot Marie Tooth disease type 2F
  • Charcot-Marie-Tooth disease, axonal, Type 2F
  • Charcot-Marie-Tooth disease, neuronal, Type 2F
  • Charcot-Marie-Tooth neuropathy, type 2F
  • CMT 2F
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.