Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Hypertrophic neuropathy of Dejerine-Sottas


Other Names for this Disease

  • Charcot-Marie-Tooth disease, demyelinating, type 4F
  • Charcot-Marie-Tooth Disease, type 3
  • CMT3
  • CMT4F
  • Dejerine-Sottas neuropathy
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Hypertrophic neuropathy of Dejerine-Sottas (Dejerine-Sottas syndrome) is a term sometimes used to describe a severe, early childhood form of Charcot-Marie-Tooth disease (sometimes called type 3) that is characterized by sensory loss with ataxia in the limbs furthest from the body and pes cavus with progression towards the limbs closest to the body.[1][2][3] Depending on the specific gene that is altered, this severe, early onset form of the disorder may also be classified as type 1 or type 4.[1][2] Dejerine-Sottas syndrome has been associated with mutations in the MPZ, PMP22, EGR2, and PRX genes. Autosomal dominant and autosomal recessive inheritance have been described.[4][5]
Last updated: 8/28/2012

References

  1. Charcot-Marie-Tooth disease. Genetics Home Reference (GHR). 2010; http://ghr.nlm.nih.gov/condition/charcot-marie-tooth-disease. Accessed 8/28/2012.
  2. Hypertrophic Neuropathy of Dejerine-Sottas. Online Mendelian Inheritance in Man (OMIM). 2010; http://omim.org/entry/145900. Accessed 8/28/2012.
  3. de Assis Aquino Gondim F, Oliveira G, Thomas FP. Hereditary Neuropathies of the Charcot-Marie-Tooth Disease Type. Medscape Reference. 2010; http://emedicine.medscape.com/article/1173484-overview#showall. Accessed 8/28/2012.
  4. Gabreels-Festen A. Dejerine-Sottas syndrome grown to maturity: overview of genetic and morphological heterogeneity and follow-up of 25 patients. 2002; http://www.ncbi.nlm.nih.gov/pubmed/12090401. Accessed 8/28/2012.
  5. Bird TD. Charcot-Marie-Tooth Hereditary Neuropathy Overview. GeneReviews. 2012; http://www.ncbi.nlm.nih.gov/books/NBK1358/. Accessed 8/28/2012.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

Please contact us with your questions about Hypertrophic neuropathy of Dejerine-Sottas. We will answer your question and update these pages with new resources and information.

Basic Information

  • Genetics Home Reference (GHR) contains information on Hypertrophic neuropathy of Dejerine-Sottas. 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.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is an 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 Hypertrophic neuropathy of Dejerine-Sottas. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Charcot-Marie-Tooth disease, demyelinating, type 4F
  • Charcot-Marie-Tooth Disease, type 3
  • CMT3
  • CMT4F
  • Dejerine-Sottas neuropathy
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.