1 In a patient with chronic progressive external ophthalmoplegia andbilateral ptosis obscuring the visual axis. Would you perform http://www.mrcophth.com/vivaquestions/viva1/3.html
Www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Ophthalmoplegia,+Chronic+Progressive+Ext Similar pages ARCHIVOS DE LA SOCIEDAD ESPAÑOLA DE OFTALMOLOGIA N.º 7 Julio - Translate this page chronic progressive external ophthalmoplegia SURGICAL TREATMENT. Key words Chronicprogressive external ophthalmoplegia-surgery, strabismus, diplopia. http://www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Ophthalmoplegia, Chronic Progress
Extractions: This Publication Is Searchable The Merck Manual of Diagnosis and Therapy Section 21. Special Subjects Chapter 286. General Principles Of Medical Genetics Topics [General] Inheritance Of Single-Gene Defects Multifactorial Inheritance Nontraditional Inheritance ... Genetic Therapy Mitochondrial DNA Abnormalities Mitochondrial disease is due to mitochondrial DNA abnormalities (eg, deletions, duplications, mutations). High-energy tissues, such as muscle, heart, and brain, are particularly at risk, but hearing, pancreas, and liver are also at risk. Patterns of tissue involvement correlate with particular mitochondrial DNA changes, eg, chronic progressive external ophthalmoplegia; its variant, the multisystem Kearns-Sayre syndrome (chronic progressive external ophthalmoplegia, heart block, retinitis pigmentosa, CNS degeneration); Pearson syndrome (sideroblastic anemia, pancreatic insufficiency, and progressive liver disease that begins in the first few months of life and is frequently fatal in infants); Leber's hereditary optic neuropathy (a variable but often devastating bilateral visual loss that often occurs in teenagers and that is due to a point mutation in mitochondrial DNA);
CSH/Sjældne Handicap/Korte/CPEO CPEO. (chronic progressive external ophthalmoplegia). CPEO tilhørergruppen af mitokondriesygdomme. CPEO er en kronisk fremadskridende http://www.csh.dk/sjaeldne_handicap/korte/CPEO.html
Extractions: (Chronic progressive external ophthalmoplegia) CPEO tilhører gruppen af mitokondrie-sygdomme CPEO er en kronisk fremadskridende lammelse af de ydre øjenmuskler, mens de indre øjenmuskler er intak-te. Hvis lammelsen forekommer dobbeltsidigt, kan det medføre et stift ansigtsudtryk med hængende øjenlåg. Dertil kan man også have ændret pigmentering af nethinden (retinitis pigmentosa), svage lemmer og generelt være plaget af forøget træthed. CPEO viser sig efter 20-års-alderen. Med tiden kan man udvikle døvhed, miste sine reflekser, få forhøjet mælkesyreindholdet i blodet, få koordinationsbesvær og noget der ligner slagtilfælde. CPEO beskrives ofte som en mildere grad af Kearns-Sayre Syndrom, hvor der er flere mitokondrier med muteret DNA. Og i mod-sætning til Kearns-Sayre syndrom, har CPEO ofte et godartet forløb.
Extractions: A B C D ... Z Oplysninger om sjældne handicap: I den alfabetiske liste nedenfor findes de syndrombetegnelser, synonymer og undertyper, der er nævnt i vores beskrivelser. Du kan gå ind i beskrivelserne direkte fra listen eller skyde genvej ved hjælp af alfabetet ovenfor. Kan du ikke umiddelbart finde, hvad du søger, kan du også benytte vores søgefunktion ved at klikke på 'søgning' i menuen til venstre på siden, eller her Oplysningerne om de enkelte syndromer er af meget forskellig karakter. Nogle af beskrivelserne er forholdsvis korte og tager udgangspunkt i en definition af syndromet. Andre beskrivelser (betegnet med ) er udarbejdet på grundlag af litteraturgennemgang, kontakt med fagpersoner samt familier berørt af syndromet. Fælles for alle beskrivelser er, at de indeholder links til yderligere information samt adresser på undersøgelses- og vejledningssteder. Disse adresser er ikke udtømmende, da også andre kan være involverede i undersøgelse og behandling af den pågældende sygdom. Ønsker du mere information eller har forslag til rettelser og tilføjelser, er du velkommen til at kontakte CSH på csh@csh.dk.
ICON Health Publications -- Home Page uti, chronic peptic ulcer and esophagitis syndrome, chronic periodontitis, chronicprogressive chorea, chronic progressive external ophthalmoplegia and myopathy http://www.icongrouponline.com/health/healthC.html
Medline Record 95071352 Title chronic progressive external ophthalmoplegia is associated witha novel mutation in the mitochondrial tRNA(Asn) gene. Author http://www.aeiveos.com/Aging/Authors/kadenbach-b/95071352.html
Extractions: Title: Chronic progressive external ophthalmoplegia is associated with a novel mutation in the mitochondrial tRNA(Asn) gene. Author(s): Seibel P; Lauber J; Klopstock T; Marsac C; Kadenbach B; Reichmann H Address: Neurologische Universitatsklinik, Wurzburg, Germany. Source: Biochem Biophys Res Commun 1994 Oct 28;204(2):482-9 Abstract: Major Indexes: Minor Indexes: Reagent Names: Language: English
Medline Record 90293730 In 13/21 patients with chronic progressive external ophthalmoplegiathe muscle mitochondrial DNA was shown to be heteroplasmic. http://www.aeiveos.com/Aging/Authors/muller-hocker-j/90293730.html
Extractions: Title: Mutations of the mitochondrial DNA: the contribution of DNA techniques to the diagnosis of mitochondrial encephalomyopathies. Author(s): Gerbitz KD; Obermaier-Kusser B; Lestienne P; Zierz S; Muller-Hocker J; Pongratz D; Paetzke-Brunner I; Deufel T Address: Institut fur Klinische Chemie, Krankenhaus Schwabing, Munchen, Germany. Source: J Clin Chem Clin Biochem 1990 Apr;28(4):241-50 Abstract: Major Indexes: Minor Indexes: Reagent Names: EC 1.- (Succinate Cytochrome c Oxidoreductase)
Untitled Document SLC25A4, A44778, YBR085W, not measured, chronic progressive external ophthalmoplegia,type III (CPEO3);Mitochondrial myopathy and cardiomyopathy (MiMyCa). http://www-deletion.stanford.edu/YDPM/mtdisease_yeasthomolog.html
Extractions: gene name protein ID yeast ortholog homozygous deletion disease class III Wilson disease (WD) BCKDHA DEHUXA class III Maple syrup urine disease (MSUD) BCKDHB class III Maple syrup urine disease (MSUD) class III Tubulopathy, encephalopathy, and liver failure due to CIII deficiency class III Deficiency of complex IV DBT class III Maple syrup urine disease (MSUD) DLD DEHULP class III Dihydrolipoamide dehydrogenase deficiency;Leigh syndrome FH UFHUM class III Deficiency of fumarate hydratase GCSH GCHUH class III Non-ketotic hyperglycinemia, type III (NKH3) HHH class III Deficiency of ornithine translocase class III Deficiency of MTHFD1 DEHUPA class III Pyruvate dehydrogenase deficiency;Leigh syndrome class III Pyruvate dehydrogenase deficiency POLG class III Progressive external ophthalmoplegia with mitochondrial DNA deletions (PEO); Involved in male infertility (MI)
Mitochondrial Disease Listing and Deafness CIPO Chronic Intestinal Pseudoobstruction with myopathy and OphthalmoplegiaCPEO chronic progressive external ophthalmoplegia DEAF Maternally http://www.mitoresearch.org/MitochondrialDiseaseListing.html
CMGS-Mitochondrial Disease And Its Molecular Analysis/16.1.98 deletions in 1989 showed the following Deletions were found in 78% of KearnsSayrepatients, 56% of chronic progressive external ophthalmoplegia-plus patients http://www.ich.ucl.ac.uk/cmgs/mitodis.htm
Extractions: Mitochondrial DNA The first mutations in mitochondrial DNA were discovered in 1988 and since that time a great deal of knowledge has accumulated on mitochondrial disorders. Mitochondrial DNA encodes 13 polypeptides which are integral components of mitochondrial respiratory chain essential for aerobic metabolism. In addition, mitochondrial DNA encodes 22 transfer RNA's and 2 ribosomal RNAs used in mitochondrial protein synthesis. Mitochondrial phenotypes are caused by gross structural rearrangements (single deletions, multiple deletions or duplications) or point mutations in the mitochondrial DNA. Mutations with potential to cause lethal impairment of oxidative phosphorylation (gross structural rearrangements or point mutations in critical regions) are viable only if they are heteroplasmic ( that is, the cells contain both wild type and mutant mitochondrial DNA). The majority of milder missense mutations in protein coding regions are heteroplasmic. Homoplasmy is the presence of completely mutant or completely normal mitochondrial DNA.
Mitochondrial Diseases CPEO. Long Name chronic progressive external ophthalmoplegia Syndrome.Symptoms Similar to those of KSS plus visual myopathy, retinitis http://www.tsbvi.edu/Outreach/seehear/spring02/mitochondrial.htm
Extractions: http://www.umdf.org/ SEE/HEAR Editor's note: A number of children in Texas who are visually impaired or deafblind have as the cause of their sensory loss, Mitochondrial diseases. In order to understand more about these diseases, I visited the United Mitochondrial Disease Foundation website. I learned that we have a great opportunity in Texas to learn more about these diseases because their 5th International Conference on Mitochondrial Diseases will be held this year in Dallas. I want to thank the UMDF for letting me excerpt portions of the wealth of information they provide on their website to share with our SEE/HEAR readers. I encourage you to visit this website if you have a child with a Mitochondrial disease or if you are a teacher working with one of these children. Mitochondrial diseases result from failures of the mitochondria, specialized compartments present in every cell of the body except red blood cells. Mitochondria are responsible for creating more than 90% of the energy needed by the body to sustain life and support growth. When they fail, less and less energy is generated within the cell. Cell injury and even cell death follow. If this process is repeated throughout the body, whole systems begin to fail, and the life of the person in whom this is happening is severely compromised. The disease primarily affects children, but adult onset is becoming more and more common.
Classification And Examination Of Patients With Acquired Ptosis ptosis may sometimes overlap with ptosis of neurogenic etiology, including myastheniagravis, chronic progressive external ophthalmoplegia, and myotonic http://www.ophthalmic.hyperguides.com/Tutorials/oculoplastics/ptosis/tutorial.as
Extractions: You've spent minutes on Ophthalmic Hyperguide Over the years, many classifications of ptosis have been developed. However, recently with refinements in the diagnosis of ptosis, along with improved anatomic evaluation and study of the pathophysiology of certain types of ptosis, a better understanding of ptosis has developed. Ptosis may be classified into congenital and acquired types. Congenital ptosis is a developmental dystrophy of the levator muscle of an unknown cause ( Slide 1 ). The condition is usually sporadic, but it may be hereditary. Congenital ptosis may be simple with the defect isolated to only the levator muscle or with superior rectus muscle weakness. Congenital ptosis also includes blepharophimosis syndrome, which is hereditary and which, in addition to ptosis, may include varying degrees of telecanthus, epicanthus inverses, phimosis, and ectropion of the lower eyelids. Congenital ptosis also includes the Marcus Gunn jaw winking syndrome, which is caused by abnormal levator innervation rather than a striated muscle fiber deficiency. Slide 1 Acquired ptosis is best classified by Beard ; however, other authors have added subclassifications, including aponeurotic, neurogenic, myogenic, mechanical, traumatic, and pseudoptosis.
Descriptions Of Mitochondrial Diseases Long Name ATP synthase deficiency. Symptoms Slow, progressive myopathy. Links.CPEO. Long Name chronic progressive external ophthalmoplegia Syndrome. http://www.umdf.org/mitodisease/descriptions.html
Extractions: Symptoms listed here are those commonly found in each disease. Sources, where not specified, include publications by Drs. Salvatore DiMauro (Metabolic Myopathies; Handbook of Clinical Neurology ; 1992; 18(62); 479-522) and Richard Haas (Disorders of Oxidative Metabolism and Mitochdondria; Neurology in Clinical Practice , Bradley, et al, Chapt 69; 1996; 1523-32). Suggestions and questions are welcome, contact webmaster@umdf.org Alpers Disease Long name: Progressive Infantile Poliodystrophy. Symptoms: seizures, dementia, spasticity, blindness, liver dysfunction, and cerebral degeneration. Links Source: Dr. Rolf Luft; The development of mitochondrial medicine. [Review] ; Proceedings of the National Academy of Sciences of the United States of America Barth syndrome LIC (Lethal Infantile Cardiomyopathy) Symptoms: skeletal myopathy, cardiomyopathy, short stature, and neutropenia.
Terms & Definitions CPEO chronic progressive external ophthalmoplegia Syndrome. The combinationof ptosis and restricted eye movements is referred to as opthalmoplegia. http://www.umdf.org/mitodisease/definitions.html
Extractions: ESSENTIAL PREFIXES: ESSENTIAL SUFFIXES: DEFINITIONS: ACIDOSIS: Elevated amounts of organic acids in the blood, which accumulate when food is not properly metabolized. ADP : Adenosine diphosphate; the low energy product produced when ATP releases energy to the cell. ADVOCATE: One who supports or defends a cause. One who pleads on behalf of another. ALPER DISEASE: Progressive Infantile Poliodystrophy. Cases of Alper disease may be caused by disorders of oxidative phosphorylation, including mitochondrial DNA depletion syndromes APHASIA: Impaired or absent language function, usually referring to speech; which results from an injury to brain structures usually in the dominant hemisphere (the side of the brain that controls language function is usually the side opposite to the handedness of the person and is referred to as the dominant hemisphere by definition)
Extractions: The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only they do not constitute endorsements of those other sites.
