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Genetic and Rare Diseases Information Center (GARD)

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Autosomal dominant optic atrophy, hearing loss, and peripheral neuropathy


Other Names for this Disease

  • Hagemoser Weinstein Bresnick syndrome
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Overview

Autosomal dominant optic atrophy, hearing loss, and peripheral neuropathy is a neurological condition first described by Hagemoser et al. in 1989 in two unrelated families. This condition is characterized by the development of bilateral hearing loss and visual impairment with optic atrophy during childhood. Some individuals go on to develop neurological features involving the lower limbs in the adult years. Inheritance appears to be autosomal dominant.[1] 
Last updated: 11/26/2012

References

  1. Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant. Online Mendelian Inheritance in Man (OMIM). 2005; http://omim.org/entry/165199. Accessed 11/26/2012.
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  • The 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 Autosomal dominant optic atrophy, hearing loss, and peripheral neuropathy. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Hagemoser Weinstein Bresnick syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.