Definitions for kearns-sayre syndrome
U.S. National Library of Medicine
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)
Kearns–Sayre syndrome also known as oculocraniosomatic disease or Oculocraniosomatic neuromuscular disease with ragged red fibers is a mitochondrial myopathy with a typical onset before 20 years of age. KSS is a more severe syndromic variant of chronic progressive external ophthalmoplegia, a syndrome that is characterized by isolated involvement of the muscles controlling eyelid movement, and those controlling eye movement. This results in ptosis and ophthalmoplegia respectively. KSS involves a triad of the already described CPEO, as well as bilateral pigmentary retinopathy, and cardiac conduction abnormalities. Other areas of involvement can include cerebellar ataxia, proximal muscle weakness, deafness, diabetes mellitus, growth hormone deficiency, hypoparathyroidism, or other endocrinopathies. In both of these diseases, muscle involvement may begin unilateral but always develops into a bilateral deficit, and the course is progressive. This discussion is limited specifically to the more severe and systemically involved variant; KSS
Find a translation for the kearns-sayre syndrome definition in other languages:
Select another language:
Use the citation below to add this definition to your bibliography:
"kearns-sayre syndrome." Definitions.net. STANDS4 LLC, 2013. Web. 5 Dec. 2013. <http://www.definitions.net/definition/kearns-sayre syndrome>.