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Konigsmark Knox Hussels syndrome
Other Names for this Disease
- Deafness optic atrophy syndrome
- Dominant congenital deafness and progressive optic nerve atrophy
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sensorineural deafness and progressive optic atrophy, which results in mildly reduced visual acuity. Some affected individuals can develop ophthalmoplegia (paralysis of the muscles that control eye movements), ptosis, ataxia, and non-specific myopathy in middle age. This condition is caused by a particular mutation in the OPA1 gene and is inerited in an autosomal dominant fashion.Konigsmark Knox Hussels syndrome is an inherited condition that causes both hearing and vision loss. This condition is characterized by late-onset progressive
Last updated: 5/13/2011
- Optic atrophy 1 and deafness. Online Mendelian Inheritance of Man (OMIM). 2010; http://www.ncbi.nlm.nih.gov/omim/125250. Accessed 5/13/2011.
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In Depth Information
- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Konigsmark Knox Hussels syndrome. Click on the link to go to OMIM and review these resources.
- 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 Konigsmark Knox Hussels syndrome. Click on the link to view a sample search on this topic.