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Diseases

Genetic and Rare Diseases Information Center (GARD)

Charcot-Marie-Tooth disease type 1E


Other Names for this Disease
  • CMT 1E
  • Charcot-Marie-Tooth disease, demyelinating, Type 1E
  • Charcot-Marie-Tooth disease and deafness
  • Charcot-Marie-Tooth neuropathy and deafness, autosomal dominant
  • Charcot Marie Tooth disease type 1E
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Overview

Charcot-Marie-Tooth disease type 1E (CMT1E) is a form of Charcot-Marie-Tooth disease, which is a group of rare conditions that affect the peripheral nerves. Signs and symptoms of CMT1E generally become apparent between age 5 and 25 years, although the age of onset and disease severity can vary significantly from person to person. In general, CMT1E is associated with the typical features of Charcot-Marie-Tooth disease type 1 (progressive weakness of the feet and/or ankles; foot drop; atrophy of muscles below the knee; absent tendon reflexes of upper and lower extremities; and a decreased sensitivity to touch, heat, and cold in the feet and/or lower legs) in addition to hearing loss. CMT1E is caused by certain changes (mutations) in the PMP22 gene and is inherited in an autosomal dominant manner.[1][2] Treatment is based on the signs and symptoms present in each person.[1][3]
Last updated: 2/18/2016

References

  1. Bird TD. Charcot-Marie-Tooth Neuropathy Type 1. GeneReviews. March 2015; http://www.ncbi.nlm.nih.gov/books/NBK1205/.
  2. CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS. OMIM. January 2012; http://www.omim.org/entry/118300.
  3. Divakara Kedlaya, MBBS. Charcot-Marie-Tooth Disease. Medscape Reference. November 2014; http://emedicine.medscape.com/article/1232386-overview.
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Basic Information

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • 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 1E. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • CMT 1E
  • Charcot-Marie-Tooth disease, demyelinating, Type 1E
  • Charcot-Marie-Tooth disease and deafness
  • Charcot-Marie-Tooth neuropathy and deafness, autosomal dominant
  • Charcot Marie Tooth disease type 1E
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.