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Genetic and Rare Diseases Information Center (GARD)

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Leber hereditary optic neuropathy with dystonia


Other Names for this Disease

  • Dystonia familial, with visual failure and striatal lucencies
  • LDYT
  • Leber optic atrophy and dystonia
  • Leber's hereditary optic neuropathy with dystonia
  • LHON and dystonia
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Overview

Leber hereditary optic neuropathy (LHON) with dystonia is a very rare variant of LHON where an individual has LHON associated with dystonia, which involves involuntary muscle contractions, tremors, and other unctrolled movements. It is caused by mutations in one of three mitochondrial genes: MT-ND1, MT-ND3, MT-ND4, and MT-ND6. Other features that have been associated with this condition include difficulty walking, muscle wasting, scoliosis, dysphagia, dysarthriaintellectual disability, dementia, and spasticity. The dystonia usually begins in childhood; vision loss may begin in early adulthood.[1]
Last updated: 7/7/2011

References

  1. Leber Optic Atrophy and Dystonia. Online Mendelian Inheritance of Man (OMIM). December 2009; http://omim.org/entry/500001. Accessed 7/7/2011.
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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 Leber hereditary optic neuropathy with dystonia. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Dystonia familial, with visual failure and striatal lucencies
  • LDYT
  • Leber optic atrophy and dystonia
  • Leber's hereditary optic neuropathy with dystonia
  • LHON and dystonia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.