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Summary
KEARNS-SAYRE SYNDROME
OPHTHALMOPLEGIA, PIGMENTARY DEGENARATION OF RETINA AND CARDIOMYOPATHY KEARNS-SAYRE DISEASE
530000
OMIM = Online Medalian Inheritance of Men
480
mtDNA
mitochondrial DNA (mtDNA) deletions
autosomal recessive
sporadic
symptoms
ataxia
cardiac arrhythmia, dysrhythmia
cardiomyopathy
cardiomyopathy, dilated
cardiomyopathy, hypertrophic
coma
diabetes mellitus
growth retardation
hearing defect, deafness
heart involvement
hypoglycemia
lactic acidosis
mental retardation
metabolic acidosis
muscle weakness
myopathy, ragged red fibers
onset, infancy
ophthalmoparesis
ophthalmoplegia
optic atrophy
ptosis (drooping eyelid)
retinal or macular degeneration
retinitis pigmentosa
retinopathy
tremor or twitching
vomiting
laboratory finding
L-Lactic acid2.006.000.901.80mmol/lblood
Lactate/Pyruvate ratio20.0040.0011.0018.00no unitblood
pH7.207.307.357.45no unitblood
D-Glucose2.003.503.305.50mmol/lserum
Protein, total, spinal fluid1000.00 10.0030.00increasedcerebrospinal fluidchild
Folate decreasedcerebrospinal fluid
CT, brain, abnormalities -
EMG abnormalities -
Literature
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