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Topic: Kearns-Sayre syndrome

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Kearns Sayre Syndrome A mitochondrial disorder Kearns Sayre syndrome seems to occur sporadically (is not inherited). Kearns Sayre syndrome is caused by problems with the genetic material in body cells. All individuals with Kearns Sayre syndrome should be monitored by an ophthalmologist and a cardiologist. www.malattiemetaboliche.it /articoli/sayre_syndrome.htm   (250 words)

List of syndromes and diseases that cause deafblindness Kearns-Sayre Syndrome Clinical Resources from The University Medical Group This section of the website is designed to provide further information about rare syndromes and causes of deafblindness. Hurler syndrome (Mucopolysaccharidosis Type IH or MPS IH) www.sense.org.uk /deafblindness/allcauses.htm   (494 words)

Mitochondrial Disorders Single large deletions are associated with Kearns-Sayre, Ocular Myopathy (sporadic) and Pearson's syndrome. Mitochondrial DNA breakage syndrome : PEO + Myopathy Mean life span with full clinical syndrome ~ 2 to 4 decades www.neuro.wustl.edu /neuromuscular/mitosyn.html   (494 words)

List of syndromes and diseases that cause deafblindness Kearns-Sayre Syndrome Clinical Resources from The University Medical Group This section of the website is designed to provide further information about rare syndromes and causes of deafblindness. Wolf-Hirschholm syndrome (4p) - website by a father whose child has WHS. www.sense.org.uk /deafblindness/allcauses.htm   (494 words)

YOUNG ONSET NEUROLOGICAL DISEASE ASSOCIATION YONDA for short Kearns-Sayre Syndrome, Kennedy Disease, Kinsbourne syndrome, Klippel Feil Syndrome, Krabbe Disease, Kugelberg-Welander Disease, Kuru Narcolepsy, Neurofibromatosis, Neuroleptic Malignant Syndrome, Neurological Manifestations of AIDS, Neurological Manifestations of Pompe Disease, Neurological Sequelae Of Lupus, Neurological Sequelae Of Lyme Disease, Neuronal Ceroid Lipofuscinosis, Neuronal Migration Disorders, Neurosarcoidosis, Nevus Cavernosus, Niemann-Pick Disease Early Infantile Epileptic Encephalopathy, Empty Sella Syndrome, Encephalitis and Meningitis, Encephaloceles, Encephalotrigeminal Angiomatosis, Epilepsy, Erb's Palsy www.geocities.com /yondaohio/01.html   (494 words)

cockayne syndrome - definition from Biology-Online.org (Science: radiology) Type of dysmyelinating disease, autosomal recessive, onset usually within 2nd year, (?) variant of Pelizaeus- Merzbacher disease, distinguish from Kearns -Sayre syndrome CT findings : microcephaly, basal ganglion calcification, cerebral atrophy www.biology-online.org /dictionary/cockayne_syndrome   (494 words)

Ryan's Hope Foundation The Ryan's Hope Foundation has been established as a non-profit organization for the sole purpose of raising funds to find a cure for Kearns-Sayre Syndrome. Ryan McDonald is a 9 year old boy from Michigan who has a degenerative disease called Kearns-Sayre Syndrome (KSS). Kearns-Sayre Syndrome is most often recognized by a triad of symptoms, which are: onset before age 20, paralysis of the eye muscles, and pigmentary degeneration of the retina. www.ryanshopefoundation.org   (403 words)

Migraine Infantile spasms Inflammatory myopathy Intracranial cyst Intracranial hypertension J Joubert syndrome K Kearns-Sayre syndrome Kennedy disease Kinsbourne syndrome Klippel Feil syndrome Krabbe disease Kugelberg-Welander disease Kuru L Lafora disease Lambert 1000 -Eaton myasthenic syndrome Landau-Kleffner syndrome Lateral medullary (Wallenberg) syndrome Learning disabilities Leigh's disease Lennox- Cyclospora infection Cystic fibrosis Cystitis Cytomegalovirus D Dementia Dengue fever Dental caries Depression Diabetes Diphallia Diphtheria Donovanosis Downs syndrome Dwarfism Dysbarism Dysentery Dysplasia Dysthymia Dystonia E Ebola haemorrhagic fever Eclampsia Ehrlichiosis Emphysema Encephalitis Epilepsy Erysipelas Escherichia coli O157:H7 Esotropia Euphobia Exostoses F Fibropapillomatosis Fibro Divalproex Sodium, sold by Abbott Laboratories under the trade name of Depakote is the semisodium salt of valproic acid, made by combining sodium valproate with valproic acid to form a chemical complex which contains half the sodium of an equivalent dose of sodium valproate. datapheed.com /Migraine-30.html   (437 words)

PEO1 - progressive external ophthalmoplegia 1 Single deletions of mitochondrial DNA ( mtDNA) are associated with three major clinical conditions: Kearns-Sayre syndrome, a multisystem disorder; Pearson syndrome (PS), a disorder of the hematopoietic system; and progressive external ophthalmoplegia ( PEO), primarily affecting the ocular muscles. Kearns-Sayre syndrome ( KSS) and progressive external ophthalmoplegia ( PEO) are related neuromuscular disorders characterized by ocular myopathy and ophthalmoplegia. PEO1 is a homologue of XG415 (twinkle (XG415)) from Caenorhabditis elegans. www.pdg.cnb.uam.es /UniPub/iHOP/gg/101078.html   (437 words)

Migraine Infantile spasms Inflammatory myopathy Intracranial cyst Intracranial hypertension J Joubert syndrome K Kearns-Sayre syndrome Kennedy disease Kinsbourne syndrome Klippel Feil syndrome Krabbe disease Kugelberg-Welander disease Kuru L Lafora disease Lambert 1000 -Eaton myasthenic syndrome Landau-Kleffner syndrome Lateral medullary (Wallenberg) syndrome Learning disabilities Leigh's disease Lennox- datapheed.com /Migraine-30.html   (437 words)

Severe hypomagnesemia and hypoparathyroidism in Kearns-Sayre syndrome. Severe hypomagnesemia and hypoparathyroidism in Kearns-Sayre syndrome.These deletions result in significantly lower activities of the enzymes of the respiratory chain. Kearns-Sayre syndrome (KSS) is a multisystem mitochondrial disorder characterized by the invariant triad: onset before 20, progressive external ophthalmoplegia and pigmentary retinal degeneration, plus at least one of the following: complete heart block, cerebellar dysfunction and CSF protein >100 mg/dl. www.pdg.cnb.uam.es /UniPub/iHOP/gp/8840146.html   (140 words)

Characterisation of repeat and palindrome elements in patients harbouring single deletions of mitochondrial DNA -- Solano et al. 40 (7): 86 -- Journal of Medical Genetics Spontaneous Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with mtDNA deletion: A slip-replication model and matabolic therapy. Abbreviations: CPEO, chronic progressive external ophthalmoplegia; KSS, Kearns-Sayre syndrome; mtDNA, mitochondrial DNA; PCR, polymerase chain reaction the presence of ophthalmoplegia, ptosis, and proximal limb weakness. jmg.bmjjournals.com /cgi/content/full/40/7/e86   (140 words)

Primary Identified Etiology - Deafblind 122 Hurler syndrome (MPS I-H) 123 Kearns-Sayre syndrome 134 Morquio syndrome (MPS IV-B) 135 NF1 - Neurofibromatosis (von Recklinghausen disease) 143 Scheie syndrome (MPS I-S) 144 Smith-Lemli-Opitz (SLO) syndrome www.tsbvi.edu /Education/db-etiology.htm   (68 words)

Kearns-Sayer Syndrome - Kearns Syndrome - information page with HONselect Synonym(s): Kearns Syndrome / Kearn-Sayre Mitochondrial Cytopathy / Kearns' Syndrome / Kearns-Sayre-Shy-Daroff Syndrome / www.hon.ch /HONselect/RareDiseases/EN/C05.651.460.700.500.html   (68 words)

Mitochondrial Disorders Single large deletions are associated with Kearns-Sayre, Ocular Myopathy (sporadic) and Pearson's syndrome. MELAS ; MERRF ; Leigh's ; Myopathy and cardiomyopathy ; Kearns-Sayre Examples: A3243G may produce only cardiomyopathy; Myopathy with early respiratory involvement www.neuro.wustl.edu /neuromuscular/mitosyn.html   (68 words)

Juvenile Kearns-Sayre syndrome initially misdiagnosed as a psychosomatic disorder -- Norby et al. 31 (1): 45 -- Journal of Medical Genetics Juvenile Kearns-Sayre syndrome initially misdiagnosed as a psychosomatic disorder -- Norby et al. Juvenile Kearns-Sayre syndrome initially misdiagnosed as a psychosomatic disorder signs that were initially though to be psychosomatic. jmg.bmjjournals.com /cgi/content/abstract/31/1/45   (68 words)

Kearns-Sayre syndrome with a phenocopy of choroideremia instead of pigmentary retinopathy -- Herzberg et al. 43 (1): 218 -- Neurology Kearns-Sayre syndrome with a phenocopy of choroideremia instead of pigmentary retinopathy -- Herzberg et al. Kearns-Sayre syndrome with a phenocopy of choroideremia instead of pigmentary retinopathy mtDNA, we suggest that choroideremia is a phenocopy and can be part of KSS. www.neurology.org /cgi/content/abstract/43/1/218   (68 words)

eMedicine - Kearns-Sayre Syndrome : Article by Ewa Posner, MD 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. Andrews RM, Griffiths PG, Chinnery PF, Turnbull DM: Evaluation of bupivacaine-induced muscle regeneration in the treatment of ptosis in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome. An identical deletion has been identified in patients with 2 other conditions, ie, Pearson syndrome, which comprises sideroblastic anemia of childhood, pancytopenia, and exocrine pancreatic failure, and chronic progressive external ophthalmoplegia (CPEO), which comprises external ophthalmoplegia, bilateral aponeurogenic ptosis, and a mild proximal myopathy. www.emedicine.com /ped/topic2763.htm   (68 words)

EyeRounds.org: Chronic Progressive External Ophthalmoplegia - Kearns-Sayre Syndrome Those who are “splitters” would say that he has Kearns-Sayre syndrome, a subset of CPEO that places him at high risk for sudden cardiac death. EyeRounds.org: Chronic Progressive External Ophthalmoplegia - Kearns-Sayre Syndrome Involutional ptosis is associated with good levator function and high upper lid crease and occurs in the elderly due to dysfunction or dehiscence (which is hardly never seen at the time of surgery) of the levator muscle. webeye.ophth.uiowa.edu /eyeforum/case24.htm   (68 words)

Ophthalmoplegia Kearns Sayre Syndrome - Neurological Disorders, Ocular Motility Disorders, Ophthalmoplegia, Kearns Sayre www.iseekhealth.com /conditions-and-diseases/ophthalmoplegia-3096.htm   (68 words)

Health website : Conditions and Diseases : Neurological Disorders : Brain Diseases : Metabolic : Mitochondrial The group is comprised of Kearns-Sayre syndrome, Leigh’s syndrome, mitochondrial DNA depletion syndrome (MDS), mitochondrial encephalomyopathy, lactic... Fundraising for a cure for mitochondrial disease such as Melas, Merf, Narp, and Leighs Syndromes. United Mitochondrial Disease Foundation United Mitochondrial Disease Foundation The United Mitochondrial Disease Foundation. www.health.1warsaw.com /Conditions_and_Diseases/Neurological_Disorders/Brain_Diseases/Metabolic/Mitochondrial   (683 words)

Muscular Dystrophy Foundation of South Africa Mitochondrial Myopathies: Myoclonic epilepsy, lactic acidosis and stroke-like episodes Mitochondrial encephalopathy and ragged red fibres KSS Kearns-Sayre Syndrome Lebers Lebers Leigh Syndrome Acute Idiopathic Polyneuritis, or Landry's Ascending Paralysis (Miller-Fisher Syndrome is a separate variant) MM MELAS MERRF KSS LHON LS MITEM disorders, OXPHOS disorders, Oculocraniosomatic neuromuscular disorder Lebers Hereditary Optic Neuropathy --- www.mdsa.org.za /info_facts.htm   (295 words)

LookSmart - Kearns Syndrome or Kearn-Sayre Mitochondrial Cytopathy Join the Zeal community and help build the "Kearns Syndrome or Kearn-Sayre Mitochondrial Cytopathy" Directory Category. Kearns Syndrome or Kearn-Sayre Mitochondrial Cytopathy - Guides revealing the causes, symptoms, diagnosis, problems, and cure of Kearns-Sayre-Shy-Daroff syndrome. Authored by Ewa Posner MD, offered is an introduction, the work up, clinical features, treatment, medications, and follow up of KSS. altavista.looksmart.com /eus712192/eus10061386/r?lt&pin=030827x088fe19661c3819f7e1&   (295 words)

Encyclopedia Later it was found that patients with this syndrome who also had signs of nervous system involvement and retinal pigmentation (the Kearns-Sayre syndrome) had widespread mitochondrial pathology in muscle and brain. Climbing up the legs on rising from the floor (Gowers' sign) is characteristic but not specific, as it occurs in any disorder in which pelvic girdle muscles are weak. Nevertheless, early symptoms and signs (even though readily recognizable to parents who may have seen them in an older child) are very difficult for the doctor to detect. www.eamg-med.com /members/encyclopedia/25/25_2.shtml   (4804 words)

eMedicine - Hypoparathyroidism : Article by Paul S Thornton, MB, BCh Mitochondrial cytopathies, such as Kearns-Sayre syndrome (ie, external ophthalmoplegia, ataxia, sensorineural deafness, heart block, and elevated cerebral spinal fluid [CSF] protein), are associated with hypoparathyroidism. DiGeorge syndrome (ie, hypoparathyroidism, T-cell abnormalities, cardiac anomalies) is associated with abnormal development of the third and fourth pharyngeal pouches from which the parathyroids derive embryologically and represents an example of a defect in parathyroid gland development. Hypoparathyroidism incurred during neck surgery may be transient or permanent depending upon the extent of injury and preservation of the parathyroid glands. www.emedicine.com /ped/topic1125.htm   (3982 words)

LHON - Leber optic neuropathy We examined 99mTc-HMPAO Brain SPECT studies of 15 patients with various types of mitochondrial encephalomyopathy (3 Leber's hereditary optic neuropathy (LHON), 4 Kearns-Sayre syndrome (KSS), 4 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), 3 myoclonic epilepsy and ragged-red fiber disease (MERRF), and 1 Leigh syndrome), diagnosed by molecular studies. Leber's hereditary optic neuropathy: heteroplasmy is likely to be significant in the expression of LHON in families with the 3460 ND1 mutation. Leber's hereditary optic neuropathy (LHON) with mitochondrial ND4 gene mutation (11778) in a Thai patient. www.ihop-net.org /UniPub/iHOP/gg/89835.html   (2128 words)

United Mitochondrial Disease Foundation - Medical Article List by Subject Hisatome ; I ; 1293* ; Excess release of hypoxanthine from exercising muscle in patients with Kearns-Sayre syndrome [letter]. Hsu ; CC ; 1041* ; CPEO and carnitine deficiency overlapping in MELAS syndrome. Blake ; PY ; 3211* ; MR of oculomotor nerve palsy. www.umdf.org /data/query/kss-cpeo.htm   (2128 words)

Mitochondrial DNA - Wikipedia, the free encyclopedia Mutations of mitochondrial DNA can lead to a number of illnesses including exercise intolerance and Kearns-Sayre syndrome (KSS), which causes a person to lose full function of their heart, eye, and muscle movements. The concept of the Mitochondrial Eve is based on the same type of analysis, attempting to discover the origin of humanity by tracking the lineage back in time. Human mitochondrial DNA consists of 5-10 rings of DNA and appears to carry 16,568 base pairs with 37 genes (13 proteins, 22 tRNAs and two rRNAs) which are concerned with the production of proteins involved in cellular respiration. en.wikipedia.org /wiki/Mitochondrial_DNA   (787 words)

BioMed Central Full text Neonatal presentation of ventricular tachycardia and a Reye-like syndrome episode associated with disturbed mitochondrial energy metabolism Clinical manifestations of cardiac disease occur in 57% of patients with Kearns-Sayre syndrome [17]. Mitochondrial cytopathies are a group of disorders that are clinically heterogeneous with variable forms of presentation. It has been reported before that an increased excretion of orotate in sick children may not be uncommon and that a positive allopurinol load test may indicate unrecognized mitochondrial disease, making orotic acid as a potential marker of mitochondrial dysfunction [35]. www.biomedcentral.com /1471-2431/2/12   (787 words)

Zidovudine and dideoxynucleosides deplete wild-type mitochondrial DNA levels and increase deleted mitochondrial DNA levels in cultured Kearns-Sayre syndrome fibroblasts. Kearns-Sayre syndrome is the most commonly diagnosed mitochondrial cytopathy and produces severe neuromuscular symptoms. The most frequent cause is a mitochondrial DNA deletion that removes a 4977-base pair segment of DNA that includes several genes encoding for respiratory chain subunits. www.aegis.com /aidsline/1996/sep/M9690840.html   (787 words)

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