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Kearns-Sayer Syndrome
| Name: | Kearns-Sayer Syndrome |
| Definition: | A mitochondrial disorder featuring the triad of chronic progressive EXTERNAL OPHTHALMOPLEGIA, cardiomyopathy ( CARDIOMYOPATHIES) with conduction block ( HEART BLOCK), and RETINITIS PIGMENTOSA. Disease onset is in the first or second decade. Elevated CSF protein, sensorineural deafness, seizures, and pyramidal signs may also be present. Ragged-red fibers are found on muscle biopsy. |
| Synonym(s): | Kearns Syndrome, Mitochondrial ocular myopathy, Kearn-Sayre Mitochondrial Cytopathy, Pigmentary degeneration of the retina plus heart block syndrome, Kearns-Sayre-Shy-Daroff Syndrome |
| Super-category: | Multisystem disease |
| Defining citation: | Adams et al., Principles of Neurology, 6th ed, p984 |
| Id: | birnlex_12826 |
| Link to OWL / RDF: | Download this content as OWL/RDF |
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- Acronym: KSS
Facts about Kearns-Sayer SyndromeRDF feed
| Acronym | KSS + |
| Created | 18 November 2007 + |
| CurationStatus | uncurated + |
| DefiningCitation | Adams et al., Principles of Neurology, 6th ed, p984 + |
| Definition | A mitochondrial disorder featuring the tri … A mitochondrial disorder featuring the triad of chronic progressive EXTERNAL OPHTHALMOPLEGIA, cardiomyopathy ( CARDIOMYOPATHIES) with conduction block ( HEART BLOCK), and RETINITIS PIGMENTOSA. Disease onset is in the first or second decade. Elevated CSF protein, sensorineural deafness, seizures, and pyramidal signs may also be present. Ragged-red fibers are found on muscle biopsy. ged-red fibers are found on muscle biopsy. |
| DefinitionSource | UMLS + |
| Id | birnlex_12826 + |
| Label | Kearns-Sayer Syndrome + |
| ModifiedDate | 30 May 2009 + |
| Synonym | Kearns Syndrome +, Mitochondrial ocular myopathy +, Kearn-Sayre Mitochondrial Cytopathy +, Pigmentary degeneration of the retina plus heart block syndrome +, and Kearns-Sayre-Shy-Daroff Syndrome + |
| Umlscui | C0022541 + |