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         Chronic Progressive External Ophthalmoplegia:     more detail

41. 1Up Health > Health Links Directory > Conditions And Diseases: C
5pSyndrome (4) Chronic Fatigue Syndrome (116) Chronic Obstructive PulmonaryDisease (104) chronic progressive external ophthalmoplegia (2) Circulation
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42. Mitochondrial Disorders
Examples of Mitochondrial Disorders. KearnsSayre syndrome (KSS),chronic progressive external ophthalmoplegia. Various forms. May
http://prl.humc.edu/obgyn/public/genetics/Mito.htm
Mitochondrial Disorders The mitochondria are energy producing intracellular organelles thought to have arisen by endosymbiosis of bacteria. The DNA of the mitochondria (mtDNA) is circular, and while mitochondria reproduce by binary fission. mtDNA replication is controlled by the eukaryotic genome . Mitochondrial disorders are transmitted through the maternal line and no affected males transmit the disease. The mother transmits her mtDNA through the ovum, but the sperm do not. The mitochondria from the mom may all be like (homoplasmy) or a mixture of normal and abnormal mtDNA (heteroplasmy). The relative proportion of normal to abnormal mtDNA determines the degree of expression for the mutation. Clinical features associated with mtDNA mutation syndromes include:
  • Seizures, failure to thrive, respiratory insufficiency, weakness and vomiting in the neonate. Developmental delay or regression ataxia, optic atrophy, progressive external ophthalmoplegia, sensorineural deafness, stroke-like episodes, dementia , exercise intolerance, and short stature.
Laboratory findings may include:
  • Lactic acidosis, normal or slightly elevated CK levels, and elevated CSF protein.

43. /
in the quadriceps muscle during bicycle ergometer exercise in normal controls and3 patients with chronic progressive external ophthalmoplegia (CPEO) and one
http://lib1.nippon-foundation.or.jp/1997/0313/contents/221.htm

44. Mitochondrial Information
defect in Complex IV of the respiratory chain Complex V Deficiency ATP SynthaseDeficiency CPEO - chronic progressive external ophthalmoplegia Syndrome CPT I
http://www.emdn-mitonet.co.uk/info.htm
family page history emdn glossary membership ... home page
The Children’s Mitochondrial Disease Network
Alpers Disease - Progressive Infantile Poliodystrophy
Barth Syndrome - Lethal Infantile Cardiomyopathy
Beta-oxidation Defects - See - LCAD, LCHAD, MAD, SCAD, SCHAD, VLCAD
Carnitine Deficiency / Myopathy
Cartnitine-Acyl-Carnitine Deficiency
Complex I Deficiency - NADH dehydrogenease (NADH-CoQ Reducatase) Deficiency
Complex II Deficiency - Succinate Dehydrogenase Deficiency
Complex III Deficiency - Ubiquinone-cytrochrome C Oxidoreductase Deficiency
Complex IV Deficiency / Cox Deficiency - Cytochrome C Oxidase deficiency is caused by a defect in Complex IV of the respiratory chain Complex V Deficiency - ATP Synthase Deficiency CPEO - Chronic Progressive External Ophthalmoplegia Syndrome Fatty Acid Oxidation Disorders KSS - Kearns-Sayre Syndrome Lactic Acidosis - The accumulation of Lactic Acid due to its production exceeding its use. Chronic lactic acidosis is a common symptom of mitochondrial disease.

45. Malattie Rare E Genetiche Lettera "O"
Translate this page and cardiomyopathy/oculocraniosomatic syndrome/ophthalmoplegia-plus syndrome/mitochondrialcytopathy//chronic progressive external ophthalmoplegia with myopathy
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46. Neurogate.com Neurosurgery Search Engine And Neurosurgery Custom Medline Searchi
Choroid Plexus Choroid Plexus Neoplasms - Chronic Brain Damage - Chronic FatigueSyndrome - chronic progressive external ophthalmoplegia - Cisterna Magna
http://www.neurogate.com/neuro/index2.html
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47. Glossary - C
cc, with correction (cum correctico), CPC, central posterior curve.CC, chief complaint, CPEO, chronic progressive external ophthalmoplegia.
http://www.site4sight.org.uk/Glossary/glos_c.htm
You are here : The O.R.N. Home Search This Site Front Page A ... Z
C
c with (curn) CMV cytomegalovirus C 1 cyclopentolate (Cyclogyl) i% eyedrops CN cranial nerve C centigrade 2nd cranial nerve (optic) C cranial nerve 3rd cranial nerve (oculomotor) c cycloplegic 4th cranial nerve (trochlear) Ca calcium 5th cranial nerve (trigeminal) CA carcinoma 6th cranial nerve (abducens) CA cancer, corneal abrasion CNAG chronic narrow angle glaucoma CAB cellulose acetate butyrate CNDO congenital nasolacrimal duct obstruction CACG chronic angle closure glaucoma CNS central nervous system CAD coronary artery disease CNVM choroidal neovascular membrane CAG closed angle glaucoma COAD chronic obstructtve airway disease CAI carbonic anhydrase inhibitor COAG chronic open angle glaucoma cat.

48. Kearns-Sayre Syndrome From Pediatrics / Genetics And Metabolic Disease
comprises sideroblastic anemia of childhood, pancytopenia, and exocrine pancreaticfailure, and chronic progressive external ophthalmoplegia (CPEO), which
http://author.emedicine.com/ped/topic2763.htm
eMedicine Journal Pediatrics Genetics And Metabolic Disease
Kearns-Sayre Syndrome
Synonyms, Key Words, and Related Terms: 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 Introduction Clinical Differentials ... Bibliography
AUTHOR INFORMATION Section 1 of 11 Authored by Ewa Posner, MD , Specialist Registrar in Paediatrics, Department of Pediatric Neurology, Newcastle General Hospital, UK Coauthored by Anna Basu, MA, BMBCh, MRCPCH , Staff Physician, Department of Pediatrics, Newcastle General Hospital, Newcastle, United Kingdom; DM Turnbull, MBBS, PhD, MD , Professor, Department of Neurology, University of Newcastle Upon Tyne, UK; Honorary Consultant Neurologist, Royal Victoria Infirmary, Newcastle Upon Tyne, UK Ewa Posner, MD, is a member of the following medical societies: Royal College of Paediatrics and Child Health Edited by Erawati Bawle, MD, FAAP, FACMG

49. WebGuest - Open Directory : Health : Conditions And Diseases : Neurological Diso
Sites Emergency Medicine An introduction to chronic progressive external ophthalmoplegia.Includes clinical features, work up, treatment and follow up.
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the entire directory only in Ophthalmoplegia/Kearns_Sayre_Syndrome Top Health Conditions and Diseases Neurological Disorders ... Ophthalmoplegia : Kearns Sayre Syndrome

See also:
Sites:
  • Emergency Medicine - An introduction to chronic progressive external ophthalmoplegia. Includes clinical features, work up, treatment and follow up.
  • NINDS Kearns-Sayre Syndrome - Information sheet compiled by the National Institute of Neurological Disorders and Stroke.
Last update: 5:34 PT, Tuesday, April 23, 2002
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50. MITOMAP: Reported Mitochondrial DNA Base Substitution Diseases: RRNA/tRNA Mutati
CPEO, chronic progressive external ophthalmoplegia, KSS, Kearns SayreSyndrome. DM, Diabetes Mellitus, DMDF, Diabetes Mellitus + DeaFness.
http://mitomap.bio.uci.edu/cgi-bin/mitomap/tblgen/tbl9gen.pl
Search for:
MITOMAP: Reported Mitochondrial DNA Base Substitution Diseases:
rRNA/tRNA mutations
(Last edited Mar 18, 2003) Locus Disease Allele RNA Homo-
plasmy Hetero-
Plasmy Status References MTTF MELAS tRNA Phe Prov references MTTF Myoglobinuria tRNA Phe Prov references MTTF Tubulointerstitial nephritis tRNA Phe Prov references MTTF MM tRNA Phe Prov references SNHL 12S rRNA Prov references DM 12S rRNA Prov references DM 12S rRNA Prov references DEAF 12S rRNA Cfrm references MTTV AMDF tRNA Val Prov references MTTV Leigh Syndrome tRNA Val Prov references MTTV MELAS tRNA Val Prov references Rett Syndrome 16S rRNA Prov references MELAS 16S rRNA Prov references ADPD 16S rRNA Prov references MELAS tRNA Leu (UUR) Cfrm references DM / DMDF tRNA Leu (UUR) Cfrm references MM tRNA Leu (UUR) Prov references CPEO tRNA Leu (UUR) Cfrm references KSS tRNA Leu(UUR) Prov references MM / CPEO tRNA Leu (UUR) Prov references MM tRNA Leu (UUR) Prov references MELAS tRNA Leu (UUR) Prov references MM tRNA Leu (UUR) Prov references MELAS tRNA Leu (UUR) Cfrm references Myopathy tRNA Leu (UUR) Prov references MMC tRNA Leu (UUR) Cfrm references DM tRNA Leu (UUR) Prov references MELAS tRNA Leu (UUR) Conf references PEM tRNA Leu (UUR) Prov references DM tRNA Leu (UUR) Prov

51. MoSt GeNe/Genetic Drift/Nontraditional Inheritance/Mitochondrial Inheritance
LHON), which usually presents with onset of symptoms after puberty; KearnsSayresyndrome and chronic progressive external ophthalmoplegia (CPEO), which both
http://www.mostgene.org/gd/gdvol10b.htm
Previous Section This Issue- Table of Contents Next Section Nontraditional Inheritance
Vol. 10: Winter, 1994
Mitochondrial Inheritance
Traditional inheritance views the nucleus as the central repository of genetic information and meiosis as the principal determinant of the segregation of traits in families. However, the existence of another genome, the mitochondrial genome, in all cells introduces another twist of biology leading to nontraditional inheritance. Mitochondria are organelles that provide much of the energy cells use for the work they do. Most biologists now believe that these structures evolved from microorganisms that established symbiotic relationships with the ancestors of animal cells very early in the history of life on this planet. Selection for metabolic advantages gained through symbiosis explains how it has come to be that mitochondria contain their own DNA that codes for 13 of their proteins along with ribosomal and transfer RNA that specifically help express mitochondrial series. As with any form of DNA, mitochondrial DNA (mtDNA) sequences are susceptible to mutation In fact, there is evidence that mitochondrial sequences may mutate at rates 3 to 5 times greater than nuclear sequences. The consequences of mitochondrial mutations, however, may be very different from those that occur in nuclear DNA. First, each cell contains about 100,000 mitochondria, each of which has 2 to 10 copies of its genome. The effect a mutation in mtDNA will have on a cell's function will therefore depend on the number of mutant organelles in a cell compared to the number of normal, or "wild type", present. In this respect, each cell is analogous to an organism in which somatic mutation can produce mosaicism (see above). Here the mixture of genotypes is termed heteroplasmy.

52. Rare Diseases List - Office Of Rare Diseases
Mitochondrial cytopathy; chronic progressive external ophthalmoplegia withmyopathy. Ophthalmoplegia, progressive external, with raggedred fibers.
http://ord.aspensys.com/diseaseinfo.asp?ID=6817

53. Jan 1999 Case-- 48 Year Old Man With Diabetes, Short Stature, Dementia, Ataxia,
NARP (neuropathy, ataxia and retinitis pigmentosa), LHON (Leber's hereditary opticatrophy), CPEO (chronic progressive external ophthalmoplegia) and MNGIE
http://medschool.slu.edu/departments/neurology/case/jan99.shtml
Department Of Neurology
Case of the Month
48 year old man with diabetes,
short stature, dementia,
ataxia, hearing loss and neuropathy Florian P. Thomas, M.D., Ph.D. and Julia M. Zevallos, M.D. Navigate Here Case Inclusion Body Myositis Severe Conjunctival Edema 48 year old man with diabetes 20-Month-Old Male Refusal To Bear Weight On The Legs 9 Year Old With Intermittent Episodes
Table 1.
Table 2.

Table 3.
Click on the above tables to view Clinical History
A 48-year-old man presented with a three year history of sensory complaints and cognitive decline. Short term memory loss resulted in a job loss. He had become emotionally unstable, had word finding difficulties and got lost on unfamiliar streets. He no longer could pay bills or make coffee. He had daytime drowsiness, but no excessive snoring. At a videotaped family event four years earlier he seemed neurologically intact. He had a eight year history of diabetes mellitus, hearing loss and impotence. He had completed high school and obtained a GED. He was the only child of a Cherokee Indian man about whom little was known. His mother had several healthy, now adult children with another man. She suffered from migraine. There is no family history of seizures, dementia, hearing loss, external ophthalmoplegia, myopathy, visual problems, short stature or diabetes. The patient's 24 year old son, 28 year old daughter and two grandchildren are healthy. General and Neurological Examinations He was 162 cm tall, wore hearing aids and looked older than his stated age. He was disoriented to date. His affect was restricted, dysphoric and irritable. There were no hallucinations. His IQ was 79. Memory, reasoning, attention and language were moderately to severely impaired. There was cerebellar ataxia and stocking-like distribution sensory impairment, but no other cranial nerve, visual or motor abnormalities or involuntary movements.

54. AtOphthalmology: Ophthalmology Resources Search Engine
Ocular Onchocerciasis Ophthalmia Neonatorum - Sympathetic Ophthalmia - Ophthalmoplegia- chronic progressive external ophthalmoplegia - Optic Atrophy
http://www.ophthoguide.com/ophthalmology/index2.php3
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55. The Royal College Of Ophthalmologists Of London - Exams
Horner’s syndrome F. Syringomyelia G. Diabetic III nerve palsy H. Myasthenia gravisI. chronic progressive external ophthalmoplegia J. Myotonic Dystrophy K
http://www.rcophth.ac.uk/exams/part3_new.html
Brief Outline of Exams Exam Results Revision Courses Application packs: Calendar, Fees, Submission procedure Part 1 Membership Exam Part 2 Membership Exam Part 3 Membership Exam ... Fellowship (FRCOphth) exit assessment
New Part 3 Membership Examination from April 2003
Information for candidates In response to considerable discussion the Examinations Committee of the College has decided to update the format of the Part 3 MRCOphth Examination.
  • A more standardised and objective assessment A more formal assessment of communication skills Assessment by 12 rather than 4 examiners in the clinical section Assessment by 4 rather than 2 examiners in the oral examination Detailed feedback of performance for candidates who fail
A new Part III subcommittee has been formed to plan the examination and the first examination adopting the new format will be conducted in Dundee in September 2003. Minor modifications to the format below may be made and further information will be available in due course. Content of the Examination This is the same as the present Part 3 i.e. Medical and Surgical Ophthalmology and Ophthalmic Pathology and Microbiology. In achieving this end the examination will assess the relevant knowledge, understanding and skills as follows.

56. Pp. 57-60 In Intractable Neurological Disorders, Human Genome
have been classified into three major forms based on the clinical characteristics,these are chronic progressive external ophthalmoplegia (CPEO), mitochondrial
http://www.biol.tsukuba.ac.jp/~macer/IND/INDIN.html
pp. 57-60 in Intractable Neurological Disorders, Human Genome Research and Society. Proceedings of the Third International Bioethics Seminar in Fukui, 19-21 November, 1993.
Eubios Ethics Institute All commercial rights reserved. This publication may be reproduced for limited educational or academic use, however please enquire with Eubios Ethics Institute.
Heterogeneity of mitochondrial diseases
Ikuya Nonaka and Yu-ichi Goto
Departments of Laboratory Medicine and Child Neurology, National Center Hospital for Nervous, Mental and Muscular Disorders, NCNP, Kodaira, Tokyo 187, Japan The mitochondria is an intracellular organelle for supplying energy to the living cell. Since the muscle and central nervous system depend on larger amounts of energy than other organs, mitochondrial dysfunction frequently results in diseases in these organs, as the term "mitochondrial encephalomyopathies" indicates. In this communication, we would like to discuss difficulties in genetic counseling of mitochondrial diseases focusing on MELAS, one of the most common of the maternally inherited mitochondrial diseases (1). 1. Mitochondrial (mt) DNA

57. BAM 10 (3)
Metabolic and Muscle Adaptation to Aerobic Training in Patients Affectedby chronic progressive external ophthalmoplegia. Gabriele
http://www.bio.unipd.it/~bam/bam10-3.htm
BAM 10 (3), 2000
Articles 99 Changes in Ca -regulatory muscle membrane proteins during the chroni clow-frequency
stimulation induced fast-to-slow transition process

K Ohlendieck Full text pdf 673Kb
Metabolic and muscle adaptation to aerobic training in patients affected by Chronic

Progressive External Ophthalmoplegia

G Siciliano, ML Manca, M Mancuso, LE Pollina, P Iacconi, and L Murri Full text pdf 148Kb
Dynamic cardiomyoplasty: clinical experience after seven years

C Werling, C Jungheim and W Saggau Full text pdf 190Kb
Chronic aortic counterpulsation with latissimus dorsi: clinical follow-up cardiomyoplasty

comparison
J Trainini, J Barisani, J Mouras, EI Cabrera Fischer, and AI Christen Full text pdf 142Kb Validation of Doppler flow guidewire for peak aortic flow measurement in order to establishits sensitivity for recognition of cardiac assistance in Demand Dynamic Cardiomyoplasty G Rigatelli, M Barbiero, G Docali, M Zanchetta, L Pedon, A Baratto, P Maiolino, G Rigatelli, U Carraro, and S Dalla Volta

58. Home Test/Rare Test Index Equipment/Services
Chronic myelogenous leukemia profile. chronic progressive external ophthalmoplegia(CPEO). Chylomicron screen, body fluid. Citric acid (citrate), urine.
http://www.clr-online.com/cgi-bin/2002/searchtestalpha.asp?Alpha=c

59. Signs And Symptoms - Internet Handbook Of Neurology
format); chronic progressive external ophthalmoplegia eMedicine/Ophthalmology;Convergence Insufficiency - eMedicine/Ophthalmology;
http://www.neuropat.dote.hu/signs.htm
Internet Handbook of Neurology Compiled by
K atalin H
Department of Neurology
University of Debrecen, Hungary Signs and
Symptoms Chapters:
A Collection of High Quality Online Resources for Health Professionals Adie's tonic pupil Affective Disorders Ageusia Agnosia Akathisia Alexia, Agraphia Amblyopia Amnesia/Memory Impairment

60. Med. Dienstleistungsangebot
Translate this page Kearns Sayre syndrome Pearson syndrome chronic progressive external ophthalmoplegia(CPEO) mitochondrial myopathy, encephalopathy, lactic acidosis and stroke
http://www.kinderklinik-bern.ch/Pediatrics/Divisions/Genetics/genetics_routine.h
Division of Human Genetics
University of Berne
Kontakte/ Contacts:
sabina.gallati@insel.ch

andre.schaller@insel.ch

franziska.joncourt@insel.ch

mladen.pavlovic@insel.ch
Dienstleistungsangebot

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Informations pour le médecin Informazioni per il medico Informationen für Patienten / Innen Informations pour les patientes et les patients Informazioni per i pazienti DNA / RNA-Isolierung aus Blut, Gewebe und kultivierten Zellen Zum Seitenanfang Analysen Cystische Fibrose Charcot-Marie-Tooth, Hereditäre motorische und sensorische Neuropathie (HMSN) Duchenne-, Becker-Muskeldystrophien Emery-Dreifuss-Muskeldystrophie Hämochromatose Leigh Syndrom mit COX-Defizienz Menkes-Disease Metachromatische Leukodystrophie (MLD) Mitochondriale Erkrankungen Kearns Sayre Syndrom Pearson Syndrom Chronische Progressive Externe Ophthalmoplegie (CPEO) Mitochondriale Myopathie, Enzephalopathie, Laktatazidose und "stroke-like episodes" (MELAS)

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