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.
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.
Extractions: Front Page Today's Digest Week in Review Email Updates ... Ophthalmoplegia Kearns Sayre Syndrome (2 links) See Also: News about Kearns Sayre Syndrome New Cardiac Arrhythmia Syndrome Identified (June 1, 2004) full story Silence Of The Genes: Researchers Provide Unique View Of Inherited Disorders And Cancer (June 1, 2004) full story UW-Madison Scientists Find A Key To Cell Division (May 28, 2004) full story Vaccines Against Foodborne Disease On Horizon (May 25, 2004) full story Discovery Of Gene For Cornelia De Lange Syndrome Discovery May Lead To Prenatal Test For Debilitating Disorder (May 20, 2004) full story [ More news about Kearns Sayre Syndrome
Malattie Rare E Genetiche Lettera "O" Translate this page and cardiomyopathy/oculocraniosomatic syndrome/ophthalmoplegia-plus syndrome/mitochondrialcytopathy//chronic progressive external ophthalmoplegia with myopathy http://fmfpc.altervista.org/O.htm
Progressive External Ophthalmoplegia CAUSES unknown. Synonyms chronic dystrophic ophthalmoplegia. ICD9-CM 378.72progressive external ophthalmoplegia Author(s) Mark R. Dambro, MD http://www.5mcc.com/Assets/SUMMARY/TP0745.html
EMedicine - Kearns-Sayre Syndrome : Article Excerpt By: Ewa Posner, MD KSS) is characterized by a triad of features including (1) onset in persons youngerthan 20 years; (2) chronic, progressive, external ophthalmoplegia; and (3 http://www.emedicine.com/ped/byname/kearns-sayre-syndrome.htm
Extractions: (advertisement) 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 Background: Kearns-Sayre syndrome (KSS) is characterized by a triad of features including (1) onset in persons younger than 20 years; (2) chronic, progressive, external ophthalmoplegia; and (3) pigmentary degeneration of the retina. In addition, KSS may include cardiac conduction defects, cerebellar ataxia, and raised cerebrospinal fluid (CSF) protein levels (>100 mg/dL). Additional features associated with KSS may include myopathy, dystonia, endocrine abnormalities (eg, diabetes, growth retardation/short stature, hypoparathyroidism), bilateral sensorineural deafness, dementia, cataracts, and proximal renal tubular acidosis. Thus, KSS may affect many organ systems. Pathophysiology: KSS occurs secondary to deletions in mitochondrial DNA (mtDNA) that cause a particular phenotype. The gene in which deletions occur is identified as Online Mendelian Inheritance in Man number 530000. An understanding of some aspects of mitochondrial genetics is important to understanding KSS.
Dictionary Definition Of OPHTHALMOPLEGIA, CHRONIC PROGRESSIVE EXTERNAL , A mitochondrial myopathy characterized www.dictionarybarn.com/chronicprogressive-external-ophthalmoplegia.php More results from www.dictionarybarn.com Penn State Faculty Research Expertise Database (FRED)Faculty Research Expertise Database. ophthalmoplegia, chronic progressiveexternal. http://www.dictionarybarn.com/OPHTHALMOPLEGIA-CHRONIC-PROGRESSIVE-EXTERNAL.php
Extractions: Leu(UUR) a case of chronic progressive external ophthalmoplesia with a heteroplasmic A-to-G transition at nt.3243 in the tRNA Leu(UUR) Yoshiko Aoki, Yasuhiro Nishida, Toyotaka Murata, Makiko Kimura, Masahiko Terada We report on a 35 year-old female with chronic progressive external ophthalmoplegia. She had bilateral blepharoptosis, total ophthalmoplegia and muscle weakness of the bilateral proximal groups of the upper extremities and facial muscles. She did not exhibit either endocrinological disorder or hearing loss nor was there any family history. Pathological findings of the limb skeletal muscle showed ragged red fibers and cytochrome c oxidase-negative fibers. Mitochondrial DNA analysis revealed a mutation at the heteroplasmic A-to-G transition at nt.3243 in the RNA (LeuUUR) . During clinical examinations, there were no signs of encephalopathy or stroke-like episodes normally seen in cases of MELAS. keyword : CPEO, mtDNA3243 tRNA (LeuUUR) mutation, MELAS
ORPHANET - Rare Diseases - Orphan Drugs In this case the affection is still termed isolated progressive external ophthalmoplegia.A large proportion of chronic ophthalmoplegias are associated with http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=663
Ophthalmoplegia 5. emg in ophthalmoplegia. 3. ophthalmoplegia chronic progressive external.3. Source compiled by the editor from various references; see credits. Top. http://www.websters-online-dictionary.org/definition/english/op/ophthalmoplegia.
Extractions: Philip M. Parker, INSEAD. Ophthalmoplegia Definition: Ophthalmoplegia . Paralysis of the motor nerves of the eye. Source: WordNet 1.7.1 Specialty Definitions: Ophthalmoplegia Domain Definitions Paralysis of one or more ocular muscles. Source: European Union. references Source: compiled by the editor from various references ; see credits. Top Specialty definitions using "ophthalmoplegia" Brain syndrome Brain's syndrome Chronic Progressive External Ophthalmoplegia congenital cerebellar ataxia ... Top Non-Fiction Usage: Ophthalmoplegia Subject Topic Quote Miller Fisher syndrome is a rare, acute polyneuropathy characterized by ataxia (abnormal muscle coordination), ophthalmoplegia (paralysis of the eye muscles), and areflexia (absence of the reflexes). ( references Kearns-Sayre syndrome (KSS) is a rare neuromuscular disorder with onset usually before the age of 20. It is characterized by progressive external ophthalmoplegia (paralysis of the eye muscles) and mild skeletal muscle weakness. ( references Source: compiled by the editor from ICON Group International, Inc.
Diagnosis Case 11 autosomal dominant progressive external ophthalmoplegia syndrome in weakness and externalopthalmoplegia. before 20, chronic progressive external opthalmoplegia http://sprojects.mmi.mcgill.ca/neuropath/case11/11diag.htm
Extractions: The differential diagnosis for a young patient with asymmetrical palpebral ptosis and diplopia, with no limb or trunk weakness includes mainly myasthenia gravis (or a congenital myasthenic syndrome), or a mitochondrial disorder. The electrodiagnositic studies suggest a myopathy rather than a neuromuscular transmission disorder. The diagnosis of myasthenia gravis is less likely in this case in view of the negative acetylcholine receptor antibodies, and negative tensilon test. The muscle biopsy was, therefore, done to find evidence for a myopathy. Microscopic discussion: This biopsy showed a florid mitochondrial myopathy as evidenced by the many "ragged" red fibers. It was consistent with the clinical phenotype of a progressive external ophthalmoplegia syndrome which is often caused by mitochondrial dysfunction. The vast majority of these cases show a common large deletion of the mitochondrial DNA. In this patient, the analysis for mitochondrial deletions was negative. Rarely, point mutations in the mitochondrial genome (such as in the isoleucine t-RNA gene) have been associated with this phenotype (Taylor RW et al, 1998, Biochem Biophys Res Commun 243:47-51). There exists an autosomal dominant progressive external ophthalmoplegia syndrome in which mitochondrial DNA deletions co-segregate with an autosomally derived factor which is thought to predispose to mitochondrial DNA deletions (Moslemi AR, et al., 1996, Ann Neurol 40:707-713).
Diagnosis Case 12 corresponds to the socalled progressive external ophthalmoplegia plus pattern. withonset before 20, chronic progressive external opthalmoplegia, ptosis http://sprojects.mmi.mcgill.ca/neuropath/case12/12diag.htm
Extractions: The differential diagnosis of this patient's weakness, ptosis, and progressive opthalmoplegia includes two main possibilities: myasthenia gravis (or other neuromuscular junction disorder) and a mitochondrial disorder. The fatigability on examination and the positive tensilon test argue in favor of the diagnosis of myasthenia gravis. However, this diagnosis was not supported by the negative acetylcholine receptor antibodies and the electrodiagnostic studies, which have sensitivities of 85% and over 90% respectively in myasthenia gravis. Mitochondrial disorders can also show progressive external opthalmoplegia and weakness, but are more rare. The muscle biopsy was done to verify the possibility of a mitochondrial myopathy and, in fact, confirmed it. Microscopy Discussion: The biopsy shows a florid mitochondrial myopathy. The clinical phenotype corresponds to the so-called progressive external ophthalmoplegia plus pattern. In the vast majority of these cases, a common deletion in the mitochondrial DNA can be found. In this patient however, mitochondrial DNA analysis failed to show such a defect or for that matter any of the common mutations known to occur in mitochondrial diseases. This raises the possibility of a defect in one of the nuclear-encoded subunits of cytochrome oxidase being responsible for this disease. Alternatively, this could represent a novel mitochondrial DNA mutation. The patient's family history was not helpful in that regard.
Kearns-Sayre Syndrome The Official Parent s Sourcebook on KEARNSSAYRE SYNDROME (chronic progressiveexternal ophthalmoplegia and Myopathy; chronic progressive external http://www.icongrouponline.com/health/Kearns_Sayre.html
Extractions: (Chronic Progressive External Ophthalmoplegia and Myopathy; Chronic Progressive External Ophthalmoplegia with Ragged Red Fibers; hereditary external ophthalmoplegia; Kearns-Sayre Disease; Mitochondrial Cytopathy, Kearn-Sayre Type; oculocraniosomatic neuromuscular disease; Oculocraniosomatic Syndrome (obsolete); Ophthalmoplegia Plus Syndrome; Ophthalmoplegia, Pigmentary Degeneration of the Retina and Cadiomyopathy; ophthalmoplegia-plus; ragged red fiber disease) Revised and Updated for the Internet Age P A P E R B A C K Paperback Book Paperback Book Order by phone: 800-843-2665 (within USA) 1-201-272-3651 (from outside USA) Paperback Book Shipped in 3 to 5 business days E B O O K Electronic File * E-Book version sent via e-mail in 2 business days Electronic File *E-Book version sent via e-mail in 2 business days Pages Price $28.95(USD) ISBN Published Synopsis A comprehensive manual for anyone interested in self-directed research on Kearns Sayre. Fully referenced with ample Internet listings and glossary. Related Conditions/Synonyms Chronic Progressive External Ophthalmoplegia and Myopathy; Chronic Progressive External Ophthalmoplegia with Ragged Red Fibers; hereditary external ophthalmoplegia; Kearns-Sayre Disease; Mitochondrial Cytopathy, Kearn-Sayre Type; oculocraniosomatic neuromuscular disease; Oculocraniosomatic Syndrome (obsolete); Ophthalmoplegia Plus Syndrome; Ophthalmoplegia, Pigmentary Degeneration of the Retina and Cadiomyopathy; ophthalmoplegia-plus; ragged red fiber disease
United Mitochondrial Disease Foundation - Medical Article List By Subject The UMDF Medical Article List. Subject KearnsSayre Syndrome (KSS) / chronic progressive external Opthalmoplegia (CPEO) Back to the Subject List. United Mitochondrial Disease Foundation. We welcome http://www.umdf.org/data/query/kss-cpeo.htm
Extractions: The UMDF Medical Article List Subject: Kearns-Sayre Syndrome (KSS) / Chronic Progressive External Opthalmoplegia (CPEO) Back to the Subject List United Mitochondrial Disease Foundation We welcome any suggested additions to our list. Last updated: 26-Jun-98 REFERENCE FORMAT: Author Lastname; Firstname; Article Number; Article Title; Journal or Book; Year; Volume; Page Numbers Abramowicz ; MJ ; 3109 ; Pernicious anaemia and hypoparathyroidism in a patient with Kearns- Sayre syndrome with mitochondrial DNA duplication. ; J Inherit Metab Dis ; 1996 ; 19(2) ; 109-111 Agarwal ; P ; 3112 ; Acute bilateral ophthalmoplegia secondary to metastatic prostatic carcinoma. Demonstration on magnetic resonance imaging. ; J Neuroophthalmol ; 1995 ; 15(1) ; 45-47 Akaike ; M ; 5676 ; Cardiac dysfunction in patients with chronic progressive external ophthalmoplegia. ; Clin Cardiol ; 1997 ; 20(3) ; 239-43 Akaike ; M ; 3116 ; A case of Kearns-Sayre syndrome whose asymptomatic mother had abnormal mitochondria in skeletal muscle ; Rinsho Shinkeigaku ; 1995 ; 35(2) ; 190-194
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Degenerative Vision Or Hearing Loss KearnsSayre Syndrome - Vision progressive paralysis of certain eye muscles (chronicprogressive external ophthalmoplegia CPEO); abnormal accumulation of http://www.tsbvi.edu/Outreach/seehear/spring03/syndromes.htm
Extractions: Home Site TOC Site Search Outreach ... Spring 2003 Table of Contents By Kate Moss, Education Specialist, Texas Deafblind Outreach There are a number of syndromes associated with deafblindness that have either progressive or degenerative problems with hearing and/or vision. It is important for both parents and professionals to be aware of the possible changes in vision and hearing for children with these syndromes so we can make sure we are always making appropriate accommodations and modifications necessary for the child in the educational setting. Below is a list of some syndromes that have either a progressive or degenerative vision or hearing loss. Alstrom (Hallgren) Syndrome - Vision: Progressive (Retinitis Pigmentosa). Bardet-Biedl Syndrome (Lawrence-Moon-Bardet-Biedl) - Vision: Progressive (Retinitis Pigmentosa). Batten - Hearing: Degenerative; Vision: Degenerative. Cockayne Syndrome - Vision: Retinal degeneration. Hunter Syndrome (MPS II) - Vision: Retinal degeneration in some types.
World Of Ophthalmology - Kearns Syndrome MeSH description A mitochondrial disorder featuring the triad of chronic progressiveexternal ophthalmoplegia, cardiomyopathy (with conduction block), and http://wmed.narod.ru/w_ophth/diseases/o_motil/om_09.htm
Extractions: 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 ... 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)
Ophthalmoplegia As with most chronic neurologic diseases, mortality increases with disability. Progressiveexternal ophthalmoplegia itself is not a lifethreatening condition. http://www.ehendrick.org/healthy/000986.htm
Extractions: Resources 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. 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 (
