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Kearns-Sayer Syndrome
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Definition:
A mitochondrial disorder featuring the triad of chronic progressive , cardiomyopathy () with conduction block (), and . 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. (Adams et al., Principles of Neurology, 6th ed, p984)
Synonym(s):
Kearns Syndrome /
Kearn-Sayre Mitochondrial Cytopathy /
Kearns' Syndrome /
Kearns-Sayre-Shy-Daroff Syndrome /
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Diseases
Nutritional and Metabolic Diseases