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Kearns Sayre Syndrome

Abstract

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NORD is very grateful to Patrick Lestienne, Directeur de Recherches a l'Institut National de la Sante et de la Recherche Medicale (INSERM), Universite Victor Segalen Bordeaux 2, France, for assistance in the preparation of this report.

Synonyms of Kearns Sayre Syndrome

  • chronic progressive external ophthalmoplegia and myopathy
  • chronic progressive external ophthalmoplegia with ragged red fibers
  • CPEO with myopathy
  • CPEO with ragged red fibers
  • KSS
  • mitochondrial cytopathy
  • occulocraniosomatic syndrome (obsolete)
  • ophthalmoplegia, pigmentary degeneration of the retina and cadiomyopathy
  • ophthalmoplegia plus syndrome

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Kearns-Sayre syndrome (KSS) is a rare neuromuscular disorder characterized by three primary findings: progressive paralysis of certain eye muscles (chronic progressive external ophthalmoplegia [CPEO]); abnormal accumulation of colored (pigmented) material on the nerve-rich membrane lining the eyes (atypical retinitis pigmentosa), leading to chronic inflammation, progressive degeneration, and wearing away of certain eye structures (pigmentary degeneration of the retina); and heart disease (cardiomyopathy) such as heart block. Other findings may include muscle weakness, short stature, hearing loss, and/or the loss of ability to coordinate voluntary movements (ataxia) due to problems affecting part of the brain (cerebellum). In some cases, KSS may be associated with other disorders and/or conditions.

KSS belongs (in part) to a group of rare neuromuscular disorders known as mitochondrial encephalomyopathies. Mitochondrial encephalomyopathies are disorders in which a defect in genetic material arises from a part of the cell structure that releases energy (mitochondria), causing the brain and muscles to function improperly (encephalomyopathies). In these disorders, abnormally high numbers of defective mitochondria are present. In approximately 80 percent of cases of KSS, tests will reveal missing genetic material (deletion) involving the unique DNA in mitochondria (mtDNA).

Kearns Sayre Syndrome Resources

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