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- Q2605012 subject Q6500135.
- Q2605012 subject Q6853484.
- Q2605012 subject Q8382036.
- Q2605012 subject Q8636419.
- Q2605012 abstract "Kearns–Sayre syndrome (abbreviated KSS), also known as oculocraniosomatic disorder or oculocraniosomatic neuromuscular disorder 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 (abbreviated CPEO), a syndrome that is characterized by isolated involvement of the muscles controlling movement of the eyelid (levator palpebrae, orbicularis oculi) and eye (extra-ocular muscles). This results in ptosis and ophthalmoplegia respectively. KSS involves a combination of the already described CPEO as well as bilateral pigmentary retinopathy and cardiac conduction abnormalities. Other symptoms may include cerebellar ataxia, proximal muscle weakness, deafness, diabetes mellitus, growth hormone deficiency, hypoparathyroidism, and other endocrinopathies. In both of these diseases, muscle involvement may begin unilaterally 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.".
- Q2605012 icd10 "H49.8".
- Q2605012 icd9 "277.87".
- Q2605012 meshId "D007625".
- Q2605012 omim "530000".
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- Q2605012 icd "277.87".
- Q2605012 icd "H49.8".
- Q2605012 meshid "D007625".
- Q2605012 name "Kearns-Sayre syndrome".
- Q2605012 omim "530000".
- Q2605012 type Disease.
- Q2605012 type Thing.
- Q2605012 type Q12136.
- Q2605012 comment "Kearns–Sayre syndrome (abbreviated KSS), also known as oculocraniosomatic disorder or oculocraniosomatic neuromuscular disorder with ragged red fibers, is a mitochondrial myopathy with a typical onset before 20 years of age.".
- Q2605012 label "Kearns–Sayre syndrome".
- Q2605012 name "Kearns-Sayre syndrome".