Leber hereditary optic neuropathy with dystonia
Other Names for this Disease
- LHON and dystonia
- Leber optic atrophy and dystonia
- Marsden syndrome
- Dystonia familial, with visual failure and striatal lucencies
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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, dysarthria, intellectual disability, dementia, and spasticity. The dystonia usually begins in childhood; vision loss may begin in early adulthood.Leber hereditary optic neuropathy (LHON) with dystonia is a very rare variant of LHON where an individual has
Last updated: 7/7/2011
- 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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- 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.
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