Number of the records: 1  

Kearnsov-Sayreov syndróm

  1. Record numberd007625
    Date06.06.2025
    TypeM
    Topical termKearnsov-Sayreov syndróm
    Other termEnglish (Pseudonym) Kearns Syndrome
    Slovak (Pseudonym) Kearnsov syndróm
    Slovak (Pseudonym) Kearns-Sayreov syndróm
    UDCC05.651.460.700.500C10.292.562.750.250.500C10.597.622.447.511.500C10.668.491.500.700.500C11.590.472.250.500C11.768.585.658.500.627C14.280.238.510C18.452.660.560.700.500C23.550.291.500.688.500C23.888.592.636.447.511.500
    NoteA mitochondrial disorder featuring the triad of chronic progressive EXTERNAL OPHTHALMOPLEGIA, cardiomyopathy (CARDIOMYOPATHIES) with conduction block (HEART 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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Number of the records: 1  

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