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Kearns-Sayre syndrome
Kearns-Sayre syndrome: A neuromuscular disorder characterized by three primary findings: - Progressive paralysis of certain eye muscles (chronic progressive external ophthalmoplegia, or CPEO);
- Abnormal accumulation of colored (pigmented) material on the retina (atypical retinitis pigmentosa ), leading to chronic inflammation and progressive degeneration of the retina; and
- Heart disease ( cardiomyopathy ) such as cardiac conduction defects and heart block .
Other findings in the syndrome may include muscle weakness, short stature, hearing loss, and the loss of ability to coordinate voluntary movements ( ataxia ) due to problems in the part of the brain called the cerebellum .
Kearns-Sayre syndrome is one of the mitochondrial encephalomyopathies. These disorders are due to defects in the DNA of the mitochondria , the cell structures that produce energy. These defects cause the brain and muscles to function abnormally (encephalomyopathy). In about 80% of cases of Kearns-Sayre syndrome, tests reveal deletions in mitochondrial DNA ( mtDNA ).
There are many other names for the Kearns-Sayre syndrome including: CPEO with myopathy; CPEO with ragged-red fibers; KSS; Mitochondrial cytopathy, Kearns-Sayre type; Oculocraniosomatic syndrome; Ophthalmoplegia-plus syndrome; Ophthalmoplegia with myopathy; and Ophthalmoplegia with ragged-red fibers.
Last updated on 05/15/2008
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