KEARNS SAYRE SHY DAROFF SYNDROME
\kˈi͡ənz sˈe͡ɪə ʃˈa͡ɪ dˈaɹɒf sˈɪndɹə͡ʊm], \kˈiənz sˈeɪə ʃˈaɪ dˈaɹɒf sˈɪndɹəʊm], \k_ˈiə_n_z s_ˈeɪ_ə ʃ_ˈaɪ d_ˈa_ɹ_ɒ_f s_ˈɪ_n_d_ɹ_əʊ_m]\
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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)
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Nearby Words
- kea
- kean
- kearn sayre mitochondrial cytopathy
- kearn syndrome
- kearns sayer syndrome
- Kearns Sayre Shy Daroff Syndrome
- kearns syndrome
- kearny, lawrence
- kearny, philip
- kearny, stephen w.
- kearsarge