KEARN SAYRE MITOCHONDRIAL CYTOPATHY
\kˈi͡ən sˈe͡ɪə mˌa͡ɪtəkˈɒndɹɪəl sa͡ɪtˈɒpəθɪ], \kˈiən sˈeɪə mˌaɪtəkˈɒndɹɪəl saɪtˈɒpəθɪ], \k_ˈiə_n s_ˈeɪ_ə m_ˌaɪ_t_ə_k_ˈɒ_n_d_ɹ_ɪ__ə_l s_aɪ_t_ˈɒ_p_ə_θ_ɪ]\
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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
- kdna
- kdna maxicircles
- kdna minicircles
- kea
- kean
- Kearn Sayre Mitochondrial Cytopathy
- kearn syndrome
- kearns sayer syndrome
- kearns sayre shy daroff syndrome
- kearns syndrome
- kearny, lawrence