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Genetic and Rare Diseases Information Center (GARD)

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Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy


Other Names for this Disease

  • Iwashita syndrome
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Overview

Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy is a neurological condition described by Iwashita et al. in 1969 in a Korean brother and sister. This condition is characterized by variable degrees of hearing loss, distal weakness and loss of muscle tissue (atrophy) in the upper limbs, variable degrees of weakness and atrophy of the lower limbs, and optic atrophy with or without visual impairment. Autosomal recessive inheritance has been suggested.[1]
Last updated: 11/26/2012

References

  1. Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Recessive. Online Mendelian Inheritance in Man (OMIM). 2009; http://omim.org/entry/258650. Accessed 11/26/2012.
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In Depth Information

  • 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. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Iwashita 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.