Ophthalmoplegia, Chronic Progressive External
| Definition: |
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) |
| Notes: |
this opthalmoplegia with cardiomyopathy & retinitis pigmentosa = KEARNS SYNDROME; DF: note short X ref |
| Previously Indexed: |
DNA, Mitochondrial (1988-1992),Mitochondria, Muscle (1972-1992),Ophthalmoplegia (1966-1992) |
Ophthalmoplegia, Chronic Progressive External Categories.
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Kearns Syndrome - A mitochondrial disorder featuring the triad of chronic progressive external ophthalmoplegia, cardiomyopathy (with conduction 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. (Adams et al., Principles of Neurology, 6th ed, p984) |
Ophthalmoplegia, Chronic Progressive External Definitions and Terms
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