University Of Iowa EyeRounds.org Those who are “splitters” would say that he has kearnssayre syndrome, a subset of CPEO Ophthalmoplegia-plus or kearns-sayre syndrome? Ann Neurol. http://webeye.ophth.uiowa.edu/eyeforum/case24.htm
Extractions: This Article Abstract Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Request Permissions PubMed PubMed Citation Articles by Kosinski, C. Stroke. Christoph Kosinski, MD Michael Mull, MD Harald Lethen, MD Background Cerebral infarction is a known complication in patients with mitochondrial encephalomyopathies (MELAS, MERRF, Kearns-Sayre syndrome), but the etiology in the different types remains uncertain. Case Description A 33-year-old woman who had suffered from ophthalmoplegia, bilateral ptosis, ataxia, retinitis pigmentosa, and epilepsy since childhood was diagnosed to have Kearns-Sayre syndrome.
Extractions: This Article Full Text Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Request Permissions PubMed PubMed Citation Articles by Kosinski, C. Stroke. Christoph Kosinski, MD Michael Mull, MD Harald Lethen, MD From the Departments of Neurology (C.K., R.T.), Neuroradiology (M.M.), and Cardiology (H.L.), Technical University of Aachen (Germany). Background Cerebral infarction is a known complication in patients with mitochondrial encephalomyopathies (MELAS, MERRF, Kearns-Sayre syndrome), but the etiology in the different types remains uncertain. Case Description A 33-year-old woman who had suffered from ophthalmoplegia, bilateral ptosis, ataxia, retinitis pigmentosa, and epilepsy since childhood was diagnosed to have Kearns-Sayre syndrome. The diagnosis was confirmed by muscle biopsy when she was 17 years old. A pacemaker was implanted because of the occurrence of bradyarrhythmias
Rare Pediatric Disease Database WHAT kearnssayre syndrome is a rare genetic disorder that is WHO kearns-sayre syndrome does not affect a particular racial or ethnic group and http://www.madisonsfoundation.org/content/3/1/display.asp?did=480
KSS - Kearns-Sayre Syndrome A 20year-old woman with kearns-sayre syndrome ( KSS) suddenly experienced two Some MELAS patients have features of the kearns-sayre syndrome ( KSS) or http://www.pdg.cnb.uam.es/UniPub/iHOP/gg/89764.html
Kearns-Sayre Syndrome kearnssayre syndrome. Chronic progressive external ophthalmoplegia with myopathy. CPEO with myopathy. CPEO with ragged-red fibers http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=673
Ophthalmoplegia Vitamin E therapy has been used to treat kearnssayre syndrome. kearns-sayre syndrome is disabling, probably shortens the life span, and few if any http://www.healthatoz.com/healthatoz/Atoz/ency/ophthalmoplegia.jsp
Kearns-Sayre Syndrome - Talk Medical Humanfriendly medical definition of kearns-sayre syndrome. http://www.talkmedical.com/medical-dictionary/7949/Kearns-Sayre-Syndrome
Extractions: Tell a friend Kearns-Sayre syndrome: A neuromuscular disorder characterized by three primary findings: Other findings in the syndrome may include muscle weakness, short stature, hearing loss, and the loss of ability to coordinate voluntary movements (ataxia) due to problems in the part of the brain called the cerebellum. Kearns-Sayre syndrome is one of the mitochondrial encephalomyopathies. These disorders are due to defects in the DNA of the mitochondria, the cell structures that produce energy. These defects cause the brain and muscles to function abnormally (encephalomyopathy). In about 80% of cases of Kearns-Sayre syndrome, tests reveal deletions in mitochondrial DNA (mtDNA). There are many other names for the Kearns-Sayre syndrome including: CPEO with myopathy; CPEO with ragged-red fibers; KSS; Mitochondrial cytopathy, Kearns-Sayre type; Oculocraniosomatic syndrome; Ophthalmoplegia-plus syndrome; Ophthalmoplegia with myopathy; and Ophthalmoplegia with ragged-red fibers.
Extractions: Vol. 36 No. 11, November 1979 Featured Link E-mail Alerts ARTICLE Article Options Send to a Friend Readers Reply Submit a reply Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Robertson WC Lloyd RV Articles that cite this article Contact me when this article is cited W. C. Robertson Jr, C. Viseskul, Y. E. Lee and R. V. Lloyd The Kearns-Sayre syndrome (KSS) appears to be a distinctive disorder characterized by progressive external ophthalmoplegia, pigmentary degeneration of the retina, heart block, and elevated CSF protein levels. Recent reports have suggested that abnormalities of muscle mitochondria may also be a consistent finding in KSS. We recently examined a patient with
Extractions: Vol. 58 No. 7, July 2001 Featured Link E-mail Alerts Editorial Article Options Full text PDF Send to a Friend Readers Reply Submit a reply Related articles in this issue Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Ashizawa T Subramony SH ISI Web of Science (7) Contact me when this article is cited Topic Collections Neurogenetics Topic Collection Alerts What Is Kearns-Sayre Syndrome After All? Arch Neurol. Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings. EACH MITOCHONDRION contains multiple copies of its own DNA (mtDNA), and possesses its own replication, transcription, and translation machineries.
Kearns-Sayre Syndrome Hereditary myopathies Metabolic myopathies Mitochondrial encephalomyopathies Defects of the mitochondrial genome kearnssayre syndrome http://www.medlink.com/PublicCIP.ASP?access=public&UID=MLT000CG&code=
Ophthalmoplegia kearnssayre syndrome causes ophthalmoplegia along with loss of pigment in the retina, Vitamin E therapy has been used to treat kearns-sayre syndrome. http://www.chclibrary.org/micromed/00058920.html
Extractions: Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement. The condition can be caused by any of several neurologic disorders. It may be myopathic, meaning that the muscles controlling eye movement are directly involved, or neurogenic, meaning that the nerve pathways controlling eye muscles are affected. Diseases associated with ophthalmoplegia are ocular myopathy, which affects muscles, and internuclear ophthalmoplegia, a disorder caused by multiple sclerosis , a disease which affects nerves. Description Because the eyes do not move together in ophthalmoplegia, patients may complain of double vision. Double vision is especially troublesome if the ophthalmoplegia comes on suddenly or affects each eye differently. Because ophthalmoplegia is caused by another, underlying disease, it is often associated with other neurologic symptoms, including limb weakness, lack of coordination, and numbness. Ocular myopathy is also known as mitochondrial encephalomyelopathy with ophthalmoplegia or progressive external ophthalmoplegia. Because it is so often associated with diseases affecting many levels of the neurologic system, it is often referred to as "ophthalmoplegia plus." The main feature is progressive limitation of eye movements, usually with drooping of the eyelids (
IngentaConnect Kearns-Sayre Syndrome: Presenting With Vocal Fold Palsy We present the first documented case of kearnssayre syndrome presenting with a vocal fold palsy. References 7 references open in new window http://www.ingentaconnect.com/content/rsm/jlo/2001/00000115/00000012/art00020
Extractions: For Researchers For Librarians Authors: Diamantopoulou P. ; Ward V. M. M. ; Harries M. L. Source: , Volume 115, Number 12, 1 December 2001, pp. 1021-1022(2) Publisher: Royal Society of Medicine Press View Table of Contents full text options Abstract: We present the first documented case of Kearns-Sayre syndrome presenting with a vocal fold palsy. Keywords: KEARNS SYNDROME VOCAL FOLD ... PARALYSIS Language: English Document Type: Research article Affiliations: Department of Otolaryngology, Royal Sussex County Hospital, Brighton, UK The full text article is available for purchase $18.76 plus tax
Endocrine Surgeon What is kearnssayre syndrome? This is a very rare syndrome and is also known as oculocraniosomatic disease. The main characteristics of the syndrome are http://www.endocrinesurgeon.co.uk/pancreas/pancreas11-4.html
Extractions: Summaries of latest endocrine news......Up-to-date information at your fingertips...... Click on arrow to select.... Introduction to Endocrinology Thyroid Parathyroids Adrenals Pancreas Pituitary Multiple Endocrine Neoplasia Carcinoid tumours Erectile dysfunction Pineal Gland and Melatonin Osteoporosis Endocrine Anaesthetics A to Z of diagnostic tests Miscellaneous This is a very rare syndrome and is also known as oculocraniosomatic disease. The main characteristics of the syndrome are ophthalmoplegia and several endocrine abnormalities. One of the main endocrine abnormalities is diabetes mellitus as well as hypoparathyroidism and hypopituitarism. The cause and pathogenesis of the syndrome are not fully understood, but it is thought that there may be an important autoimmune component.
Maladie De Kearns Sayre SNOF kearns-sayre syndrome. Ann. Neurol. 1 37-54, 1977. Berio A, Piazzi A. A case of kearns-sayre syndrome with autoimmune thyroiditis http://www.snof.org/maladies/kearnsSayre.html
Extractions: jmm Ptosis de la maladie de Kearns-Sayre Cette maladie rare apparaissant avant 20 ans, fait partie des et des Cette maladie est principalement sporadique syndrome de Pearson Kearns-Sayre Elle va associer, chez un enfant de petite taille , de nombreux troubles musculaires et visuels Kearns en Maladie de Kearns Sayre Le ptosis et La biopsie musculaire COX RRF Coloration au trichrome de Gomori Actuellement il n'y a pas de traitement OMIM Mitochondrial disorders United Mitochondrial Disease Foundation Bastiaensen, L. A. K.; Joosten, E. M. G.; de Rooij, J. A. M.; Hommes, O. R.; Stadhouders, A. M.; Jaspar, H. H. J.; Veerkamp, J. H.; Bookelman, H.; van Hinsbergh, V. W. M. : Ophthalmoplegia-plus, a real nosological entity. Acta Neurol. Scand. 58: 9-34, 1978.
HOPES Glossary, K kearnssayre syndrome - A rare mitochondrial disorder that usually has an kearns-sayre syndrome is characterized by progressive paralysis of the eye http://www.stanford.edu/group/hopes/sttools/gloss/k.html
Extractions: HOPES Glossary Note: Some words can have differing definitions depending on the context in which they are used. The definitions presented here are the ones that best apply to the words as they are used on the HOPES site. A B C D ... Z K kidney - An organ that plays a critical role in the excretory system; it is responsible for generating urine. kinase - A molecule that phosphorylates , or adds a phosphate group onto, other molecules in the cell in order to turn them on or off. Often used in signaling cascades that tell the cell to carry out certain functions. kinetics - The rate at which a compound reacts. More specifically, the kinetics of a particular drug is the rate at which the drug completes its function. Kearns-Sayre syndrome - A rare mitochondrial disorder that usually has an onset before the age of 20. Kearns-Sayre syndrome is characterized by progressive paralysis of the eye muscles and mild skeletal muscle weakness. knock-in - Refers to an organism that has a particular gene or trait purposely inserted by selective breeding or laboratory techniques (e.g., a huntingtin knock-in mouse).
Ophthalmic Hyperguide. Oculoplastics: Ophthalmoplegia Plus Syndromes kearnssayre syndrome (KSS) is a subtype of mitochondrial CPEO with MRI of the brain in the kearns-sayre syndrome Report of four cases and a review. http://www.ophthalmic.hyperguides.com/tutorials/oculoplastics/ophthalmoplegia_pl
Extractions: Ophthalmoplegia Plus Syndromes Janet Rucker, MD Neurologic, ophthalmologic, and systemic disorders with common chronic progressive external ophthalmoplegia (CPEO) have been identified. Chronic progressive external ophthalmoplegia may also occur in isolation of any other system involvement. To correctly diagnose the underlying disorder in a patient with CPEO, a baseline understanding of the common disorders and pathways to diagnosis is necessary. The term ophthalmoplegia plus was coined by David Drachman, MD, in 1968 and refers to disorders with abnormalities, often neurologic, in addition to CPEO. Knowledge of these disorders has increased significantly since then; however, overlap between clinical phenotypes and genetic defects for the most common causes of CPEO remains. Chronic progressive external ophthalmoplegia should be considered a sign of disease, rather than a disease. In addition to slowly progressive, bilateral, typically symmetric ocular immobility, bilateral ptosis is often present ( Slide 1 ). Mitochondrial myopathy is the most common cause of CPEO, but CPEO may be a component of other disorders that should be considered in the differential diagnosis (Table 1).
