Sindrome de kearns sayre pdf

Kearnssayre syndrome the kearnssayre syndrome kss is a mitochondriopathies characterized by multiorgan dysfunction that typically develops before the age of twenty. The features of kearnssayre syndrome usually appear before age 20, and the condition is diagnosed by a few characteristic signs and symptoms. Kearnssayre syndrome is a condition that affects many parts of the body, especially the eyes. Usually, these problems begin in childhood or adolescence. Kearnssayre syndrome the kearnssayre syndrome kss is a mitochondriopathies characterized by multiorgan dysfunction that. Although most dna is packaged in chromosomes within the nucleus nuclear dna, mitochondria also have a small amount of their own dna called mitochondrial dna. Kearnssayre syndrome kss is a mitochondrial cytopathy that was first described in 1958. Kss prognosis is related to the number of tissues affected and the severity. Top 10 tips for getting started with prezi video in your online classroom. Kearnssayre causes eye and vision problems, and it can lead to other symptoms, like heart rhythm issues. The diagnostic criteria most widely accepted in the literature are a triad. Kearnssayre syndrome genetic and rare diseases information. Jan 28, 2020 kearnssayre syndrome kss is a rare genetic condition caused by a problem with a persons mitochondria, components found in all the bodys cells.

Dec 17, 2014 kearns sayre syndrome kss is a neuromuscular disorder defined by the triad of onset before age 20 years, pigmentary retinopathy a saltandpepper pigmentation in the retina that can affect vision, but often leaves it intact, and progressive external ophthalmoplegia peo. Kearnssayre syndrome charles shepherd bio 3 background rare neuromuscular disorder only 226 cases reported in literature effects mitochondria large duplications or deletions in mitochondrial dna bp results in under or over production of mitochondrial gene products cases 4977bp deletion randomly effects people only isolated reports. Other frequently associated clinical features include cerebellar ataxia, cardiac conduction block, raised cerebrospinal fluid csf protein content, and proximal myopathy. Kearns sayre syndrome is a condition that affects many parts of the body, especially the eyes. The features of kearns sayre syndrome usually appear before age 20, and the condition is diagnosed by a few characteristic signs and symptoms. Other frequently associated clinical features include cerebellar ataxia, cardiac conduction block, raised cerebrospinal. Algunos rasgos comunes adicionales incluyen sordera, ataxia cerebral y bloqueo. Department of neurology, hospital for sick children, queen square, london. The kearns sayre syndrome kss is a mitochondriopathies characterized by multiorgan dysfunction that typically develops before the age of twenty. The clinical case and genetic diagnosis of kearnssayre syndrome kss is described in a young patient. Les premiers muscles atteints sont ceux qui controlent les mouvements. Kearnssayre syndrome is caused by defects in mitochondria, which are structures within cells that us oxygen to convert the energy from food into a form that can be used by cells. Jul 05, 2019 kearns sayre syndrome kss is characterized by the onset of ophthalmoparesis and pigmentary retinopathy before age 20 years. Pueden presentarse otros sintomas como sordera o bloqueo cardiaco.