Category:Kearns-Sayer Syndrome

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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
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  • Definition Source: UMLS
  • Acronym: KSS

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