Ophthalmoplegia, Chronic Progressive External
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A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-red fibers and atrophy are found on muscle biopsy. Familial and sporadic forms may occur. Disease onset is usually in the first or second decade of life, and the illness slowly progresses until usually all ocular motility is lost. (From Adams et al., Principles of Neurology, 6th ed, p1422)
Synonyms: Progressive External Ophthalmoplegia, Myopathy, Mitochondrial Ocular, Graefe's Disease, Mitochondrial Ocular Myopathy, Muscular Dystrophies, Ocular, CPEO, Muscular Dystrophy, Ocular, External Ophthalmoplegia, Progressive, Ophthalmoplegia, Progressive External, Graefe Disease, Ocular Muscular Dystrophy, Ophthalmoplegia, Chronic Progressive External, Disease, Graefe, Ocular Muscular Dystrophies, Ocular Myopathy, Mitochondrial, Ocular Myopathy of Von Graefe Fuchs, Dystrophy, Ocular Muscular, Chronic Progressive External Ophthalmoplegia, Ocular Myopathy of Von Graefe-Fuchs
Instance information
93 ,chronic progressive external ophthalmoplegia with cardiomyopathy & retinitis pigmentosa = KEARNS-SAYRE SYNDROME
D017246