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Cardiovascular Diseases > Heart Diseases > Cardiomyopathies > Kearns-Sayre Syndrome
... > Pathological Conditions, Signs and Symptoms > Pathologic Processes > Disease Attributes > Chronic Disease > Ophthalmoplegia, Chronic Progressive External > Kearns-Sayre Syndrome
... > Nervous System Diseases > Cranial Nerve Diseases > Ocular Motility Disorders > Ophthalmoplegia > Ophthalmoplegia, Chronic Progressive External > Kearns-Sayre Syndrome
... > Nervous System Diseases > Central Nervous System Diseases > Ocular Motility Disorders > Ophthalmoplegia > Ophthalmoplegia, Chronic Progressive External > Kearns-Sayre Syndrome
Eye Diseases > Ocular Motility Disorders > Ophthalmoplegia > Ophthalmoplegia, Chronic Progressive External > Kearns-Sayre Syndrome
... > Nervous System Diseases > Neurologic Manifestations > Paralysis > Ophthalmoplegia > Ophthalmoplegia, Chronic Progressive External > Kearns-Sayre Syndrome
... > Pathological Conditions, Signs and Symptoms > Signs and Symptoms > Neurologic Manifestations > Paralysis > Ophthalmoplegia > Ophthalmoplegia, Chronic Progressive External > Kearns-Sayre Syndrome
Musculoskeletal Diseases > Muscular Diseases > Mitochondrial Myopathies > Ophthalmoplegia, Chronic Progressive External > Kearns-Sayre Syndrome
... > Nervous System Diseases > Neuromuscular Diseases > Muscular Diseases > Mitochondrial Myopathies > Ophthalmoplegia, Chronic Progressive External > Kearns-Sayre Syndrome
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Mitochondrial Diseases > Mitochondrial Myopathies > Ophthalmoplegia, Chronic Progressive External > Kearns-Sayre Syndrome
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Eye Diseases, Hereditary > Retinal Degeneration > Retinal Dystrophies > Retinitis Pigmentosa > Kearns-Sayre Syndrome
... > Eye Diseases > Eye Diseases, Hereditary > Retinal Degeneration > Retinal Dystrophies > Retinitis Pigmentosa > Kearns-Sayre Syndrome
... > Eye Diseases > Retinal Diseases > Retinal Degeneration > Retinal Dystrophies > Retinitis Pigmentosa > Kearns-Sayre Syndrome

Terme préférentiel

Kearns-Sayre Syndrome  

Type

  • mesh:Descriptor

Définition

  • 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)

Concept générique

Synonyme(s)

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

Qualificatif(s) autorisé(s)

Traductions

URI

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

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RDF/XML TURTLE JSON-LD Date de création 26/04/1982, dernière modification le 01/06/2021