Kearns-Sayre Syndrome Information Page National Institute Of KearnsSayre syndrome information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS). http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
EMedicine - Kearns-Sayre Syndrome Article By Ewa Posner, MD KearnsSayre Syndrome - Kearns-Sayre syndrome (KSS) is characterized by a triad of features including (1) onset in persons younger than 20 years; (2) http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Kearns Sayre Syndrome Article describes kearns sayre syndrome, its symptoms, diagnosis, and treatment. http://rarediseases.about.com/cs/kearnssayresynd/a/012404.htm
Extractions: var zLb=4; var zIoa1 = new Array('Suggested Reading','Internet links on Kearns Sayre syndrome','http://rarediseases.about.com/cs/kearnssayresynd/index.htm'); zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') zfs=0;zCMt='a70' About Rare / Orphan Diseases Information by Disease Type Mitochondrial Diseases Kearns Sayre Syndrome Rare Diseases Essentials Rare Diseases: Basic Information Rare Diseases Support Groups ... Help zau(256,140,140,'el','http://z.about.com/0/ip/417/C.htm','');w(xb+xb+' ');zau(256,140,140,'von','http://z.about.com/0/ip/496/6.htm','');w(xb+xb); Sign Up Now for the Rare / Orphan Diseases newsletter! Suggested Reading Internet links on Kearns Sayre syndrome Most Popular Muscular Dystrophy ALD and Lorenzo's Oil Progeria Syndromes Leprosy (Hansen's Disease) ... The Elephant Man What's Hot Muscular Dystrophy Autoimmune Kidney Disease Minamata Disease Charcot-Marie-Tooth Disease ... Meckel-Gruber Syndrome adunitCM(150,100,'x55') From Mary Kugler
Clinical Mitochondrial Genetics Chinnery Et Al. 36 (6) 425 in this window in a new window Figure 3 KearnsSayre syndrome. Note the bilateral ptosis, myopathic facies, and the hearing aid. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Identical Large Scale Rearrangement Of Mitochondrial DNA Causes Identical large scale rearrangement of mitochondrial DNA causes KearnsSayre syndrome in a mother and her son G Puoti1 , F Carrara2 http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Maintenance Of Human Rearranged Mitochondrial DNAs In Long-Term deletions and duplications) are found associated with a number of human disorders, including KearnsSayre syndrome (KSS), progressive external http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Rearrangements Of Human Mitochondrial DNA (mtDNA) New Insights Mitochondria from patients with KearnsSayre syndrome harboring large-scale rearrangements of human mitochondrial DNA (mtDNA; http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Kearns Sayre Syndrome This disease entry was made possible due to the generosity of the Robert Lee and Clara Guthrie Patterson Trust, through grant funds provided for the http://www.bchealthguide.org/kbase/nord/nord367.htm
Extractions: It is possible that the main title of the report Kearns Sayre Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. This disease entry was made possible due to the generosity of the Robert Lee and Clara Guthrie Patterson Trust, through grant funds provided for the National Organization for Rare Disorders' "Pediatric Rare Disease Database Project." Kearns-Sayre Syndrome is a rare neuromuscular disorder characterized by three primary findings: progressive paralysis of certain eye muscles (chronic progressive external ophthalmoplegia [CPEO]); abnormal accumulation of colored (pigmented) material on the nerve-rich membrane lining the eyes (atypical retinitis pigmentosa), leading to chronic inflammation, progressive degeneration, and wearing away of certain eye structures (pigmentary degeneration of the retina); and heart disease (cardiomyopathy) such as heart block. Other findings may include muscle weakness, short stature, hearing loss, and/or the loss of ability to coordinate voluntary movements (ataxia) due to problems affecting part of the brain (cerebellum). In some cases, Kearns-Sayre Syndrome may be associated with other disorders and/or conditions.
Kearns Sayre Syndrome - Quest Diagnostics Patient Health Library This disease entry was made possible due to the generosity of the Robert Lee and Clara Guthrie Patterson Trust, through grant funds provided for the http://www.questdiagnostics.com/kbase/nord/nord367.htm
Extractions: It is possible that the main title of the report Kearns Sayre Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. This disease entry was made possible due to the generosity of the Robert Lee and Clara Guthrie Patterson Trust, through grant funds provided for the National Organization for Rare Disorders' "Pediatric Rare Disease Database Project." Kearns-Sayre Syndrome is a rare neuromuscular disorder characterized by three primary findings: progressive paralysis of certain eye muscles (chronic progressive external ophthalmoplegia [CPEO]); abnormal accumulation of colored (pigmented) material on the nerve-rich membrane lining the eyes (atypical retinitis pigmentosa), leading to chronic inflammation, progressive degeneration, and wearing away of certain eye structures (pigmentary degeneration of the retina); and heart disease (cardiomyopathy) such as heart block. Other findings may include muscle weakness, short stature, hearing loss, and/or the loss of ability to coordinate voluntary movements (ataxia) due to problems affecting part of the brain (cerebellum). In some cases, Kearns-Sayre Syndrome may be associated with other disorders and/or conditions.
Kearns Sayre Syndrome A Mitochondrial Disorder kearns sayre syndrome is caused by problems with the genetic material in body kearns sayre syndrome seems to occur sporadically (is not inherited). http://www.malattiemetaboliche.it/articoli/sayre_syndrome.htm
Extractions: If a diagnosis of Kearns Sayre syndrome is suspected, two tests can be done. One is to check the protein and lactate levels in the cerebrospinal fluid; if the syndrome is present, the levels are elevated. The other test would be to examine a muscle sample (biopsy), looking to see if the DNA in the mitochondria is abnormal.
Extractions: Text Size A A A Front Page ... Ophthalmoplegia : Kearns Sayre Syndrome Mayo Clinic Develops New Coma Measurement System (September 8, 2005) full story Nitric Oxide Could Extend Fertility (September 8, 2005) Biochemistry , an American Chemical Society journal. full story Flipped, Expelled, Copied, And Shrunk: Researchers Document Dramatic Genome Alterations During Primate Evolution (September 6, 2005) Genome Research presents a series of studies that provide insight into the evolution and variation of primate genomes. The issue will appear online and in print on September 1, concomitant with the publication of the chimpanzee genome sequence in the journal Nature full story Discovery Will Aid Identification Of Misregulated Genes In Rett Syndrome (September 4, 2005) Molecular Cell that the "Rett Syndrome protein", MeCP2, only binds to genes with a specific sequence of nucleotide bases. This knowledge will aid in the identification of the genes that are regulated by the gene MECP2. This work was supported, in part, by the Rett Syndrome Research Foundation (RSRF).
Kearns Sayre Syndrome Synonyms, Eastern Carolina kearns sayre syndrome Synonyms University Health Systems of Eastern Carolina serves tarboro, ahoskie, edento, winsor, maxhead, dear county, http://www.uhseast.com/113248.cfm
Extractions: It is possible that the main title of the report Kearns Sayre Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. This disease entry was made possible due to the generosity of the Robert Lee and Clara Guthrie Patterson Trust, through grant funds provided for the National Organization for Rare Disorders' "Pediatric Rare Disease Database Project." Kearns-Sayre Syndrome is a rare neuromuscular disorder characterized by three primary findings: progressive paralysis of certain eye muscles (chronic progressive external ophthalmoplegia [CPEO]); abnormal accumulation of colored (pigmented) material on the nerve-rich membrane lining the eyes (atypical retinitis pigmentosa), leading to chronic inflammation, progressive degeneration, and wearing away of certain eye structures (pigmentary degeneration of the retina); and heart disease (cardiomyopathy) such as heart block. Other findings may include muscle weakness, short stature, hearing loss, and/or the loss of ability to coordinate voluntary movements (ataxia) due to problems affecting part of the brain (cerebellum). In some cases, Kearns-Sayre Syndrome may be associated with other disorders and/or conditions.
Indian Pediatrics - Editorial Exceptionally some patients develop signs of KearnsSayre syndrome in adolescents. KSS (kearns sayre syndrome). It is a sporadic multisystem disorder where http://www.indianpediatrics.net/nov2000/nov-1175-1179.htm
Extractions: The mitochondrial cytopathies in children are clinically and genetically heterogeneous group of disorders caused by structural and/or functional abnormalities in mitochondria leading to involvement of nervous systems (mitochondrial encephalomyopathies) and other organ systems(1). The concept of mitochondrial disease was first introduced in 1962 by Luft et al. and the term mitochondrial encephalomyopathy was first used in 1977 by Shapira to describe cases with complex multisystem diseases with structurally and/or functionally abnormal mitochondria in brain or muscles. The discovery in 1988 of pathogenetic mutations in mitochondrial DNA (mtDNA) in Lebers hereditary optic neuropathy (LHON) and in Kearns-Sayre Syndrome (KSS) revolutionized the diagnosis of mitochondrial disorders. Pathophysiology The precise relationship between mitochondrial DNA mutations, impairment of oxidative phosphorylation and clinical phenotypes is not well understood. The prevailing view is that defects in ATP generating capacity due to mitochondrial DNA defect leads to energy failure, cellular dysfunction and eventually cell death in the affected tissues. Recently
Extractions: Vol Page [Advanced] This Article Full Text Submit a response Alert me when this article is cited Alert me when eLetters are posted ... Alert me if a correction is posted Services Email this link to a friend Similar articles in ADC Online Alert me to new issues of the journal Download to citation manager PubMed Articles by TALIA, K. Articles by KARPATHIOS, T Arch Dis Child 278 ( September ) The first 150 words of the full text of this article appear below. E DITOR Hypomelanosis of Ito (HI) is a neurocutaneous syndrome characterised by hypopigmented skin lesions along Blaschko's lines, frequently associated with neurological, musculoskeletal, ocular, and other extracutaneous manifestations. Chromosomal mosaicism in skin fibroblasts is responsible for approximately 30% of the cases.
Extractions: Vol Page [Advanced] This Article Extract Submit a response Alert me when this article is cited Alert me when eLetters are posted ... Alert me if a correction is posted Services Email this link to a friend Similar articles in ADC Online Alert me to new issues of the journal Download to citation manager PubMed Articles by TALIA, K. Articles by KARPATHIOS, T Arch Dis Child 278 ( September ) E DITOR Hypomelanosis of Ito (HI) is a neurocutaneous syndrome characterised by hypopigmented skin lesions along Blaschko's lines, frequently associated with neurological, musculoskeletal, ocular, and other extracutaneous manifestations. Chromosomal mosaicism in skin fibroblasts is responsible for approximately 30% of the cases.
Extractions: (advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Last Updated: April 22, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: KSS, ophthalmoplegia-plus syndrome, oculocraniosomatic syndrome, chronic progressive external ophthalmoplegia and myopathy, CPEO, chronic progressive external ophthalmoplegia with ragged red fibers, mitochondrial cytopathy, ophthalmoplegia, pigmentary degeneration of the retina, cardiomyopathy, progressive ophthalmoplegia AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography
