Svensk definition
En mitokondriestörning som uppvisar triaden progressiv yttre oftalmoplegi, kardiomyopati med ledningshinder och retinitis pigmentosa. Sjukdomsdebuten sker under livets två första årtionden. Höjda nivåer av CSF-protein, sensorineural hörselnedsättning, kramper och pyramidtecken kan också förekomma.
Engelsk definition
A 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)
Svenska synonymer
Inga svenska synonymer finns.
Engelska synonymer
Syndrome, Kearns-Sayre — CPEO with Myopathy — CPEO with Myopathies — Myopathies, CPEO with — Myopathy, CPEO with — CPEO with Ragged Red Fibers — Cpeo With Ragged-Red Fibers — Kearn-Sayre Mitochondrial Cytopathy — Cytopathy, Kearn-Sayre Mitochondrial — Kearn Sayre Mitochondrial Cytopathy — Mitochondrial Cytopathy, Kearn-Sayre — Kearns Sayre Syndrome — Sayre Syndrome, Kearns — Syndrome, Kearns Sayre — Kearns Syndrome — Syndrome, Kearns — Kearns' Syndrome — Kearn Syndrome — Syndrome, Kearns' — Kearns-Sayre-Shy-Daroff Syndrome — Kearns Sayre Shy Daroff Syndrome — Syndrome, Kearns-Sayre-Shy-Daroff — Oculocraniosomatic Syndrome — Oculocraniosomatic Syndromes — Syndrome, Oculocraniosomatic — Ophthalmoplegia Plus Syndrome — Ophthalmoplegia Plus Syndromes — Syndrome, Ophthalmoplegia Plus — Ophthalmoplegia, Pigmentary Degeneration of Retina, and Cardiomyopathy — Ophthalmoplegia, Progressive External, With Ragged-Red Fibers — Ophthalmoplegia-Plus Syndrome — Ophthalmoplegia-Plus Syndromes — Syndrome, Ophthalmoplegia-Plus — Syndromes, Ophthalmoplegia-Plus — Kearns-Sayre Mitochondrial Cytopathy — Cytopathies, Kearns-Sayre Mitochondrial — Cytopathy, Kearns-Sayre Mitochondrial — Kearns Sayre Mitochondrial Cytopathy — Kearns-Sayre Mitochondrial Cytopathies — Mitochondrial Cytopathies, Kearns-Sayre — Mitochondrial Cytopathy, Kearns-Sayre — Chronic Progressive External Ophthalmoplegia with Myopathy