Kearns-Sayre Syndrome

Kearns-Sayre syndrom

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