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Kearns-Sayre Syndrome  

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Tipo

  • mesh:Descriptor

Definición

  • 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)

Etiquetas alternativas

  • Chronic Progressive External Ophthalmoplegia with Myopathy
  • CPEO with Myopathy
  • CPEO with Ragged Red Fibers
  • Cpeo With Ragged-Red Fibers
  • Kearns Sayre Syndrome
  • Kearns Syndrome
  • Kearns' Syndrome
  • Kearn-Sayre Mitochondrial Cytopathy
  • Kearns-Sayre Mitochondrial Cytopathy
  • Kearns-Sayre-Shy-Daroff Syndrome
  • Oculocraniosomatic Syndrome
  • Ophthalmoplegia, Pigmentary Degeneration of Retina, and Cardiomyopathy
  • Ophthalmoplegia Plus Syndrome
  • Ophthalmoplegia, Progressive External, With Ragged-Red Fibers
  • Ophthalmoplegia-Plus Syndrome

En otras lenguas

URI

http://data.loterre.fr/ark:/67375/JVR-VNWRVTP7-2

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