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J. bras. med ; 95(3): 22-25, Set. 2008. tab, ilus
Article in Portuguese | LILACS | ID: lil-618686

ABSTRACT

A síndrome de Kearns-Sayre é uma patologia rara, que acarreta piora da qualidade de vida; caracteriza-se por oftalmoplegia externa progressiva, fraqueza muscular e distúrbios na condução cardíaca. A entidade integra um grupo de desordens do metabolismo mitocondrial, denominadas miopatias mitocondriais ou citopatias mitocondriais.


Kearns-Sayres syndrome is a rare pathology which leads to a worse quality of life of the individual; it is characterized by progressive external ophthalmoplegia, muscular weakness, and cardiac conduction defects. The disease belongs to a group of mitochondrial metabolic disorders, named mitochondrial myopathies of mitochondrial cytopathies.


Subject(s)
Humans , Female , Cardiomyopathies/etiology , DNA, Mitochondrial/metabolism , Muscle Weakness/etiology , Mitochondrial Myopathies/diagnosis , Mitochondrial Myopathies/therapy , Ophthalmoplegia, Chronic Progressive External/etiology , Kearns-Sayre Syndrome/complications , Kearns-Sayre Syndrome/diagnosis , Kearns-Sayre Syndrome/therapy , Genetic Therapy , Antioxidants/therapeutic use , Quality of Life
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