Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy is a rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases.
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mitochondrial respiratory chain complex deficiency
MONDO:0000066
combined oxidative phosphorylation deficiency
MONDO:0000732
myopathy, lactic acidosis, and sideroblastic anemia
MONDO:0000863
mitochondrial encephalomyopathy
MONDO:0004675
progressive external ophthalmoplegia
MONDO:0005181
optic atrophy 3
MONDO:0008133