Learn About Kearns-Sayre Syndrome
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. People with Kearns-Sayre syndrome have progressive external ophthalmoplegia, which is weakness or paralysis of the eye muscles that impairs eye movement and causes drooping eyelids (ptosis). Affected individuals also have an eye condition called pigmentary retinopathy, which results from breakdown (degeneration) of the light-sensing tissue at the back of the eye (the retina) that gives it a speckled and streaked appearance. The retinopathy may cause loss of vision. In addition, people with Kearns-Sayre syndrome have at least one of the following signs or symptoms: abnormalities of the electrical signals that control the heartbeat (cardiac conduction defects), problems with coordination and balance that cause unsteadiness while walking (ataxia), or abnormally high levels of protein in the fluid that surrounds and protects the brain and spinal cord (the cerebrospinal fluid or CSF).
Kearns-Sayre syndrome is a condition caused by defects in mitochondria, which are structures within cells that use oxygen to convert the energy from food into a form cells can use. This process is called oxidative phosphorylation. 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 (mtDNA). This type of DNA contains many genes essential for normal mitochondrial function. People with Kearns-Sayre syndrome have a single, large deletion of mtDNA, ranging from 1,000 to 10,000 DNA building blocks (nucleotides). The cause of the deletion in affected individuals is unknown.
The prevalence of Kearns-Sayre syndrome is approximately 1 to 3 per 100,000 individuals.
This condition is generally not inherited but arises from mutations in the body's cells that occur after conception. This alteration is called a somatic mutation and is present only in certain cells.
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Amy Goldstein is an Endocrinologist in Philadelphia, Pennsylvania. Dr. Goldstein is rated as an Elite provider by MediFind in the treatment of Kearns-Sayre Syndrome. Her top areas of expertise are Kearns-Sayre Syndrome, Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency, Mitochondrial Trifunctional Protein Deficiency, Hirsutism in Women, and Gastrostomy.
Marek Niedziela practices in Poznan, Poland. Mr. Niedziela is rated as an Elite expert by MediFind in the treatment of Kearns-Sayre Syndrome. His top areas of expertise are Kearns-Sayre Syndrome, Intersex, Progressive External Ophthalmoplegia, Hormone Replacement Therapy (HRT), and Thyroidectomy.
Charlotte Boney is a Pediatric Endocrinologist and a Pediatrics provider in Springfield, Massachusetts. Dr. Boney is rated as an Advanced provider by MediFind in the treatment of Kearns-Sayre Syndrome. Her top areas of expertise are Kearns-Sayre Syndrome, Diabetic Ketoacidosis, Growth Hormone Deficiency (GHD), and Short Stature (Growth Disorders).
Summary: Mitochondrial diseases are a genetically diverse group of disorders, some of which are caused by mutations or deletions in the mitochondrial DNA (mtDNA) and which display a wide range of severity and phenotypes. Despite a prevalence of roughly 1 in 8500 in the population there is no effective treatments for the majority of mitochondrial diseases beyond supportive care (Gorman 2016, Elliott 2008). ...
Summary: The main goal of the project is provision of a global registry for mitochondrial disorders to harmonize previous national registries, enable world-wide participation and facilitate natural history studies, definition of outcome measures and conduction of clinical trials.
Published Date: December 01, 2011
Published By: National Institutes of Health