41. Re: Kearns-Sayre Syndrome neuromuscular diseases message board. Re kearnssayre syndrome. In Reply to kearns-sayre syndrome posted by Julie on January 08, 2000 at 080300 http://www.healthboards.com/neuromuscular-diseases/410.html

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42. ORPHANET - Maladies Rares - Médicaments Orphelins Translate this page Version pour Impression, MALADIE kearns-sayre, syndrome de, CIM H49.8, Quelques rares syndromes de Pearson ont évolué vers un syndrome de kearns-sayre. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=480

43. ORPHANET - Rare Diseases - Orphan Drugs Printing version, DISEASE kearnssayre syndrome, ICD H49.8, The onset of kearns-sayre syndrome occurs before age 20. It is marked http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=480

44. OMIM - KEARNS-SAYRE SYNDROME; KSS http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=530000

45. Cardiomyopathy In The Kearns-Sayre Syndrome. Cardiomyopathy in the kearnssayre syndrome. Channer KS, Channer JL, Campbell MJ, Rees JR. Department of Cardiology, Bristol Royal Infirmary. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=DocSum

46. CCHS Clinical Digital Library Clinical Resources by Topic Metabolic Disorders. kearnssayre syndrome Clinical Resources. kearns-sayre syndrome Access document. http://cchs-dl.slis.ua.edu/clinical/metabolism/inborn/mitochondrial/kearns.htm

Clinical Resources by Topic: Metabolic Disorders Kearns-Sayre Syndrome Clinical Resources Pediatrics Pathology Genetics Clinical Guidelines ... Miscellaneous Resources See also: Genetic Testing Clinical Resources General Genetic Disorders Clinical Resources General Metabolic Disorders Clinical Resources Kearns-Sayre Syndrome Patient/Family Resources Harrison's Principles of Internal Medicine 15th Ed.-2001: Table of contents Health Sciences Library subscription INFO Chapter 383: Muscular Dystrophies and Other Muscle Diseases: Table of contents Introduction: Access document Mitochondrial Myopathies: Access document mtDNA Disorders of Muscles: Access document Chapter 67: Diseases Caused by Genetic Defects of Mitochondria: Table of contents Introduction: Access document Structure and Function of Mitochondrial DNA: Access document Mitochondrial DNA Mutations: Access document Classic Mitochondrial Encephalomyopathy Phenotypes: Access document Organ System Manifestations of Mitochondrial Disease: Access document Role of Mitochondrial DNA Mutations in Prevalent Diseases: Access document Goetz: Textbook of Clinical Neurology 2nd Ed.-2003 (MD Consult):

47. CCHS Clinical Digital Library kearnssayre syndrome Patient/Family Resources. Mitochondrial Myopathies Access document. Miscellaneous kearns-sayre syndrome Patient/Family Resources http://cchs-dl.slis.ua.edu/patientinfo/metabolism/inborn/mitochondrial/kearns.ht

Patient/Family Resources by Topic: Metabolic Disorders Kearns-Sayre Syndrome Patient/Family Resources Miscellaneous See also: Genetic Testing Patient/Family Resources General Genetic Disorders Patient/Family Resources General Metabolic Disorders Patient/Family Resources Kearns-Sayre Syndrome Clinical Resources National Institute of Neurological Disorders and Stroke: Homepage Disorders Information: List of documents Mitochondrial Myopathies: Access document Miscellaneous Kearns-Sayre Syndrome Patient/Family Resources The Family Village Library - Specific Diagnoses Card Catalog Table of contents Mitochondrial Disorders: Access document Healthfinder (US DHHS): Homepage Genetics: List of documents National Library of Medicine MEDLINE plus Health Topics: Index Genetic Testing/Counseling: List of documents Genetic Disorders: List of documents Birth Defects: List of documents YAHOO - Health:Diseases and Conditions:Metabolic Diseases Additional Metabolic Diseases resources ( These sites have not been reviewed. YAHOO - Health:Diseases and Conditions:Genetic Disorders Additional Genetic Disorders resources ( These sites have not been reviewed.

48. Kearns-Sayre Syndrome Information Diseases Database kearnssayre syndrome may cause or feature Medical information linkskearns-sayre syndrome specific sites. Medical dictionary, library and http://www.diseasesdatabase.com/ddb7137.htm

Diseases Database Index Sponsors Contact ... Previous Page Kearns-Sayre syndrome Information Search Kearns-Sayre syndrome may cause or feature (Follow link for list) belong(s) to the category of (Follow link for list) Kearns-Sayre syndrome: Definition(s) via UMLS Code translations and terms via UMLS Kearns-Sayre syndrome: specific sites Send Kearns-Sayre syndrome to medical search engines (JavaScript enabled browsers only) If your browser has no JavaScript you can still use these: Search using Internet medical databases Search using Internet search engines (non-specialist) We subscribe to the HONcode principles of the Health On the Net Foundation i-medicine.info - the evidence based medicine, informatics and audit portal Valid XHTML 1.0 Served 2004-06-02 23:17:51 Metadata Updated 2004-05-22

49. Kearns-Sayre Syndrome,KSS,Chronic Progressive External Ophthalmoplegia And Myopa kearnssayre syndrome,KSS,Chronic Progressive External Ophthalmoplegia and Myopathy,CPEO with Myopathy,CPEO with Ragged-Red Fibers,KSS,Mitochondrial Cytopathy http://www.icomm.ca/geneinfo/kss.htm

Kearns-Sayre Syndrome,KSS,Chronic Progressive External Ophthalmoplegia and Myopathy,CPEO with Myopathy,CPEO with Ragged-Red Fibers,KSS,Mitochondrial Cytopathy Kearn-Sayre Type,Oculocraniosomatic Syndrome (obsolete),Ophthalmoplegia,Pigmentary Degeneration of the Retina and Cadiomyopathy,Kearns-Sayre Disease,Chronic Progressive External Ophthalmoplegia with Ragged Red Fibers,Ophthalmoplegia Plus Syndrome For Information on Workshops and Seminars for Special Needs Children click here The GAPS INDEX to Information on the Internet about Genetic Disorders and Birth Defects Genetic Information and Patient Services, Inc. (GAPS) HOME DISORDERS GLOSSARY Kearns-Sayre Syndrome also known as: KSS Chronic Progressive External Ophthalmoplegia and Myopathy CPEO with Myopathy CPEO with Ragged-Red Fibers KSS Mitochondrial Cytopathy, Kearn-Sayre Type Oculocraniosomatic Syndrome (obsolete) Ophthalmoplegia, Pigmentary Degeneration of the Retina and Cadiomyopathy Kearns-Sayre Disease Chronic Progressive External Ophthalmoplegia with Ragged Red Fibers Ophthalmoplegia Plus Syndrome (as defined by the National Organization for Rare Disorders 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.

50. Kearns-Sayre Syndrome Ailment Name kearnssayre syndrome. Join this Community get help by emailing and chatting to others, and sharing information and experiences, http://www.thirdaid.com/conditions/Kearns-Sayre_Syndrome.htm

Home Your Registration Details Ailment Name: Kearns-Sayre Syndrome Join this Community Registration (Details given below are only for use in the Community and under no circumstances is your information ever provided to other 3rd parties. Required Information How would you like to be known? Birthdate: document.RegistrationForm.birthdate_day.options[birthdate_current_Day].selected=true; January February March April May June July August September October November December document.RegistrationForm.birthdate_month.options[birthdate_current_Month].selected=true; E-mail: (confidential) Please note: If you enter your email address incorrectly you will not be able to access this site. You are a ... Sufferer Carer Doctor For how long? year(s) State/Province/City: Country: Select a Country Afghanistan Albania Algeria American Samoa Andorra Angola Anguilla Antarctica Antigua And Barbuda Argentina Armenia Aruba Australia Austria Azerbaijan Bahamas Bahrain Bangladesh Barbados Belarus Belgium Belize Benin Bermuda Bhutan Bolivia Bosnia and Herzegovina Botswana Bouvet Island Brazil British Indian Ocean Territory Brunei Bulgaria Burkina Faso Burundi Cambodia Cameroon Canada Cape Verde Cayman Islands Central African Republic Chad Chile China Christmas Island Cocos (Keeling) Islands Columbia Comoros Congo Cook Islands Costa Rica Cote DnullIvoire (Ivory Coast) Croatia (Hrvatska) Cuba Cyprus Czech Republic D.P.R. Korea

51. KEARNS-SAYRE SYNDROME Features Listed For kearnssayre syndrome. McKusick 165100. Cardiomyopathy; Deafness, conductive; Deafness, sensorineural; ECG abnormality/conduction defects; http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?914

52. Kearns-Sayre Syndrome kearnssayre syndrome PubMed Medline search on kearns-sayre syndrome Mitochondrial myopathies factsheet National Institute for http://www.ion.ucl.ac.uk/library/patient/kearnes.htm

Kearns-Sayre syndrome PubMed Medline search on Kearns-Sayre Syndrome Mitochondrial myopathies factsheet: National Institute for Neurological Disorders and Stroke Support Groups Climb The Quadrangle, Crewe Hall, Weston Road, Crewe, Cheshire CW1 6UR Tel: 01270 250221 (information, advice and support to parents and professionals involved with metabolic diseases). The office is open 9.00am - 5.00pm Mondays to Fridays. Fax: 01270 250244 A national umbrella organisation working on behalf of children, young people and families affected by metabolic disease. Offers a telephone helpline for information, counselling and support; written information by post (detailed information only available following confirmed diagnosis, appropriate professional counselling and telephone contact); details of other agencies and sources of help; information about the latest research and whom to contact for specialist advice etc.

53. World Of Ophthalmology - Kearns Syndrome Other Links. ? About.com kearnssayre syndrome ? eMedicine kearns-sayre syndrome Medical Textbooks for Health Professionals and Consumers. http://wmed.narod.ru/w_ophth/diseases/e_hrd/hr_14.htm

W Dr. Victor Zamyatin's Personal Web Site Ophthalmology - Home Page Anatomy Physiology Diseases Diagnostic Tests Surgical Procedures Medications Journals ... Index Encyclopaedia of Ophthalmology - Greatest Links' Collection Greatest Medical Journals' Collection Catalogue of Ophthalmological Journals Online Journal of World Ophthalmological Events Catalogue of Opthalmic Images ... News We subscribe to the HONcode principles of the Health On the Net Foundation Verify here Kearns Syndrome Eye Diseases, Hereditary Retinitis Pigmentosa Kearns Syndrome Ocular Motility Disorders Ophthalmoplegia Ophthalmoplegia, Chronic Progressive External Kearns Syndrome Retinal Diseases Retinal Degeneration Retinitis Pigmentosa Kearns Syndrome MeSH description A mitochondrial disorder featuring the triad of chronic progressive external ophthalmoplegia, cardiomyopathy (with conduction block), and retinitis pigmentosa. Disease onset is in the first or second decade. Elevated CSF protein, sensorineural deafness, seizures, and pyramidal signs may also be present. Ragged-red fibers are found on muscle biopsy. (Adams et al., Principles of Neurology, 6th ed, p984)

54. Kearns-Sayre Syndrome Medical Wisdom kearnssayre syndrome Information Page. Table of Contents (click to jump to sections). What is kearns-sayre syndrome? Is there any treatment? http://medicalwisdom.com/health/disorders/kearns_sayre.htm

Join our Message Board Forum Health Concerns Women's Health ... Dental Health Concerns Kearns-Sayre Syndrome Information Page Table of Contents (click to jump to sections) What is Kearns-Sayre Syndrome? Is there any treatment? What is the prognosis? What is Kearns-Sayre Syndrome? Kearns-Sayre syndrome (KSS) is a rare neuromuscular disorder with onset usually before the age of 20. It is the result of abnormalities in the DNA of mitochondria - small rod-like structures found in every cell of the body that produce the energy that drives cellular functions. The mitochondrial diseases correlate with specific DNA mutations that cause problems with many of the organs and tissues in the body. KSS is characterized by progressive limitation of eye movements until there is complete immobility, accompanied by eyelid droop. It is also associated with abnormal accumulation of pigmented material on the membrane lining the eyes. Additional symptoms may include mild skeletal muscle weakness, heart block (a cardiac conduction defect), short stature, hearing loss, an inability to coordinate voluntary movements (ataxia), impaired cognitive function, and diabetes. Seizures are infrequent. Several endocrine disorders can be associated with KSS. Is there any treatment?

55. Entrez PubMed Mitochondrial cytopathy (kearnssayre syndrome) Article in Serbian Jovicic A, Ivanisevic V, Spasic P, Vujicic M. Vojnomedicinska akademija, Institut za http://www.biomedcentral.com/pubmed/2343566

Entrez PubMed Nucleotide Protein ... Books Search PubMed Protein Nucleotide Structure Genome Books CancerChromosomes 3D Domains Domains Gene GEO GEO DataSets HomoloGene Journals MeSH NCBI Web Site OMIM PMC PopSet SNP Taxonomy UniGene UniSTS for Limits Preview/Index History Clipboard ... Text Version Entrez PubMed Overview FAQ Tutorial New/Noteworthy ... E-Utilities PubMed Services Journals Database MeSH Database Single Citation Matcher Batch Citation Matcher ... Cubby Related Resources Order Documents NLM Gateway TOXNET Consumer Health ... PubMed Central Summary Brief Abstract Citation ASN.1 MEDLINE XML UI List LinkOut Related Articles Cited in Books CancerChrom Links Domain Links 3D Domain Links GEO DataSet Links Gene Links Genome Links GEO Links HomoloGene Links Nucleotide Links OMIM Links PMC Links Cited in PMC PopSet Links Protein Links SNP Links Structure Links UniSTS Links Show: Sort Author Journal Pub Date Text File Clipboard E-mail Order Vojnosanit Pregl. 1990 Jan-Feb;47(1):40-2. Related Articles, Links [Mitochondrial cytopathy (Kearns-Sayre syndrome)] [Article in Serbian] Jovicic A, Ivanisevic V, Spasic P, Vujicic M. Vojnomedicinska akademija, Institut za patologiju i sudsku medicinu.

56. Kearns-Sayre Syndrome » Medical Diagnosis Medical Diagnosis » K » kearnssayre syndrome. kearns-sayre syndrome. kearns-sayre syndrome. OVERVIEW Inherited disorder (autosomal http://www.medfamily.org/diagnosis/K/diagnosis-terms-Kearns_Sayre_syndrome.phtml

Medical Diagnosis A B C ... Z Kearns-Sayre syndrome Kearns-Sayre syndrome OVERVIEW: Inherited disorder (autosomal dominant with onset before age 15). Characteristics - progressive ophthalmoplegia, pigmentary degeneration of the retina, ataxia, myopathy, cardiac conduction defect. Usual course - progressive; ophthalmic onset at ages 5-20; retinal onset at ages 8-40; cardiac onset at ages 10-40. CAUSES: TREATMENT MISCELLANEOUS SYNONYMS: ICD-9-CM: 378.55 external ophthalmoplegia see images More Helpful Links Want to discuss this term? Visit our forum or our chat room SEE ALSO (Enter the keywords below into our search box or click on the link): Hyponatremia Total Medical Terms: Rate this site! 1 - Worst 10 - Best Joint Partnership with Care Earth SGU Community Solo Futbol TUMS-Ped ... Cheap Store We're still here, you rockin' with the best! Best View with 1024x768 screen and IE 5.0 Although the medFamily materials have been developed by physicians and health care provider it is designed for educational purposes only. The site is not engaged in rendering medical advice. The information provided should not be used for diagnosing or treating a health problem or a disease. It is not a substitute for professional care. It is solely for information and second opinion purposes. If you have or suspect you may have a health problem, you should consult your health care provider and use the information here as a cross references. The authors, editors, producers, sponsors, and contributors shall have no liability, obligation or responsibility to any person or entity for any loss, damage, or adverse consequence alleged to have happened directly or indirectly as a consequence of this material.

57. Kearns-Sayre Syndrome » Medical Dictionary | Definitions, Description, Chat, Di Medical Dictionary » K » kearnssayre syndrome. kearns-sayre syndrome. kearns-sayre syndrome Inherited disorder (autosomal dominant with onset before age 15). http://www.medfamily.org/dictionary/K/terms-Kearns_Sayre_syndrome.phtml

Medical Dictionary A B C ... Z Kearns-Sayre syndrome Kearns-Sayre syndrome Inherited disorder (autosomal dominant with onset before age 15). Characteristics - progressive ophthalmoplegia, pigmentary degeneration of the retina, ataxia, myopathy, cardiac conduction defect. Usual course - progressive; ophthalmic onset at ages 5-20; retinal onset at ages 8-40; cardiac onset at ages 10-40. More Helpful Links Want to discuss this term? Visit our forum or our chat room Total Medical Terms: Rate this site! 1 - Worst 10 - Best Joint Partnership with Care Earth SGU Community Solo Futbol TUMS-Ped ... Cheap Store We're still here, you rockin' with the best! Best View with 1024x768 screen and IE 5.0 Although the medFamily materials have been developed by physicians and health care provider it is designed for educational purposes only. The site is not engaged in rendering medical advice. The information provided should not be used for diagnosing or treating a health problem or a disease. It is not a substitute for professional care. It is solely for information and second opinion purposes. If you have or suspect you may have a health problem, you should consult your health care provider and use the information here as a cross references. The authors, editors, producers, sponsors, and contributors shall have no liability, obligation or responsibility to any person or entity for any loss, damage, or adverse consequence alleged to have happened directly or indirectly as a consequence of this material.

58. HONselect - Kearns Syndrome English kearns syndrome, Kearn-sayre Mitochondrial Cytopathy - kearns syndrome - kearns-Sayer syndrome - kearns-sayre-Shy-Daroff syndrome - Cytopathy, Kearn http://www.hon.ch/HONselect/RareDiseases/C05.651.460.700.500.html

List of rare diseases: English Deutsch Language: MeSH term: Accepted terms: English: Kearns Syndrome - Kearn-Sayre Mitochondrial Cytopathy - Kearns' Syndrome - Kearns-Sayer Syndrome - Kearns-Sayre-Shy-Daroff Syndrome - Cytopathy, Kearn-Sayre Mitochondrial - Kearn Sayre Mitochondrial Cytopathy Français: KEARNS ET SAYRE, SYNDROME Deutsch: Kearns-Syndrom - Kearns-Sayre-Shy-Daroff-Syndrom Español: SINDROME DE KEARNS Português: SINDROME DE KEARNS HONselect ressources Definition: Yes Articles: Yes Images: No News: No Conferences: No Clinical trials: No Web sites: English No Français No Deutsch No Español No Português No Home About us Site map Feedback ... HONewsletter http://www.hon.ch/HONselect/RareDiseases/C05.651.460.700.500.html Last modified: Wed Apr 28 2004

59. Mitochondrial Disorders kearnssayre syndrome. Infancy Low birth weight; Death; Metabolic lactic acidosis; May precede development of kearns-sayre syndrome if survival past infancy. http://www.neuro.wustl.edu/neuromuscular/mitosyn.html

Front Search Index Links ... Patient Info MITOCHONDRIAL DISORDERS Biochemical Pathways Fatty acid oxidation Oxidative phosphorylation Mitochondria General features Mitochondrial DNA (mtDNA) General Features Mutations Nuclear encoded proteins General Features Mutations Mitochondrial disorders Biochemical classification ... Clinical syndromes Evaluation Clinical Signs Laboratory General mechanisms Mutation types ... Functional defects Pathology Histology Ultrastructure Mitochondria: General Origin of mitochondria Primordial eukaryotic cells lacked ability to use oxygen metabolically Colonized by aerobic bacteria Intracellular aerobic bacteria Added oxidative metabolism to cells Evolved into mitochondria Time: 10 years ago Structural features of mitochondria: 4 compartments Outer membrane Inner membrane: Composed predominantly of cardiolipin Matrix: Region inside inner membrane Mitochondrial DNA (mtDNA) Only organelle other than nucleus with own DNA Different structure than nuclear DNA Functions of mitochondria Pyruvate oxidation: Disorders Krebs cycle Metaboloism: Amino acids;

60. Kearns Et Sayre, Syndrome : Sites Et Documents Francophones Translate this page kearns et sayre, syndrome. Menu général CISMeF. Arborescence(s) du thesaurus MeSH contenant le mot-clé kearns et sayre, syndrome kearns syndrome http://www.chu-rouen.fr/ssf/pathol/kearnsetsayresyndrome.html

Kearns et Sayre, syndrome Menu général CISMeF Arborescence(s) Kearns et Sayre, syndrome Kearns syndrome appareil cardiovasculaire, maladies appareil locomoteur, maladies métabolisme et nutrition, maladies oeil, maladies ... système nerveux, maladies Position du mot-clé dans l' (les) arborescence(s) : Vous pouvez consulter toutes les ressources ou seulement les principales ou utiliser l' outil de recherche les recommandations les documents concernant l' enseignement les documents destinés aux patients Ou consulter ci-dessous une sélection des principales ressources : patient Kearns-Sayre, syndrome de [Par Dr Marsac C. Site éditeur Orphanet base de données sur les maladies rares et les médicaments orphelins. Direction Générale de la Santé / INSERM ; description et signes de la maladie, sites internet, dysmorphologie, conseil génétique, neurologie pédiatrique, maladies métaboliques, neuromusculaires et neurométaboliques, diagnostic pré-symptomatique de myologie et cardiomyopathie, laboratoires de diagnostic, projets de recherche en cours, associations de patients ; pays : France ; langue : français ; format : html ; accès : gratuit ; non parrainé ; daté de : 2002 ; visité le : 27/10/2003]. mots clés : facteur âge Kearns et Sayre, syndrome

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