Diseases
Kearns-Sayre SyndromeSyndrome
MERRFRagged red fiCerebrospinal fluidDeletionSymptomsExercise intolerancePhenotypeCPEOPathophysiologyDiseaseDeletionsMELASManifestationsChronicDeaFnessCharacteristicOccursDisordersPearsonLeighConsistentGeneticRareHornerAbnormalities22q11Patients with the syndromeFeaturesTherapyOccurCases
MERRF2
  • If myoclonic epilepsy with ragged red fibers (MERRF) syndrome is caused by at least one of four point mutations in mitochondrial DNA, then curing the disease should be as easy as giving new mitochondria to patients. (mitochondrialdiseasenews.com)
  • myoclonic epilepsy and ragged-red fibers (MERRF) syndrome, and Kearns-Sayre syndrome (sporadic multisystem mitochondrial pathology). (ima-press.net)
Ragged red fi2
  • Kearns-Sayre syndrome (KSS), oculocraniosomatic disorder or oculocranionsomatic neuromuscular disorder with ragged red fibers is a mitochondrial myopathy with a typical onset before 20 years of age. (wikipedia.org)
  • Skeletal muscle biopsy revealed presence of ragged-red fibers, consistent with Kearns-Sayre syndrome. (stanford.edu)
Cerebrospinal fluid3
  • citation needed] Kearns-Sayre patients are consistently found to have cerebral folate deficiency, a syndrome in which 5-MTHF levels are decreased in the cerebrospinal fluid despite being normal in serum. (wikipedia.org)
  • The proposed cause of cerebral folate deficiency in the Kearns-Sayre syndrome is the failure of the mechanisms in the choroid plexus that are responsible for passage of folates from the serum to the cerebrospinal fluid. (wikipedia.org)
  • Kearns-Sayre syndrome (KSS) is a rare mitochondrial DNA (mtDNA) deletion syndrome that typically presents before 20 years of age and is characterized by chronic progressive external ophthalmoplegia, pigmentary retinopathy, and a combination of cardiac conduction defects, cerebellar ataxia, and elevated cerebrospinal fluid protein levels. (nyu.edu)
Deletion4
  • Kearns-Sayre syndrome (KSS) and Pearson's marrow-pancreas syndrome (PMPS) are rare disorders caused by the same molecular defect, one of several deletion mutations in mitochondrial DNA (mtDNA). (nih.gov)
  • Mitochondrial DNA deletion in a girl with manifestations of Kearns-Sayre and Lowe syndromes: an example of phenotypic mimicry? (nih.gov)
  • [ 5 ] The deletions vary in size and location on the mitochondrial genome in different individuals, although a common deletion of 4.9kB is present in at least a third of patients with Kearns-Sayre syndrome. (medscape.com)
  • Kearns-Sayre syndrome (KSS) is a mitochondrial DNA deletion syndrome that presents with profound cerebral folate deficiency and other features. (biomedcentral.com)
Symptoms3
  • We have studied a girl who presented with an oculocerebrorenal syndrome, but later developed symptoms and signs of mitochondrial encephalomyopathy. (nih.gov)
  • Even if two individuals are affected by the same disease, such as Leigh syndrome, they may not have identical symptoms or causes of disease. (mitochondrialdiseasenews.com)
  • If patients with Kearns-Sayre syndrome commonly are deficient in folate, logic would presume folinic acid therapy may benefit their symptoms. (mitochondrialdiseasenews.com)
Exercise intolerance1
  • 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. (dadamo.com)
Phenotype1
  • citation needed] Kearns and Sayre described patients with "pigmentary degeneration" on funduscopy, night vision abnormalities, and some histologic similarities, but also clinical differences, to retinitis pigmentosa Subsequently, the retinal phenotype of KSS was described as retinitis pigmentosa, atypical retinitis pigmentosa, tapetoretinal degeneration, salt-and-pepper retinopathy, and pigmentary retinopathy. (wikipedia.org)
CPEO4
  • KSS is a more severe syndromic variant of chronic progressive external ophthalmoplegia (abbreviated CPEO), a syndrome that is characterized by isolated involvement of the muscles controlling movement of the eyelid (levator palpebrae, orbicularis oculi) and eye (extra-ocular muscles). (wikipedia.org)
  • Pearson syndrome , which is a sideroblastic anemia of childhood, pancytopenia, and exocrine pancreatic failure, and chronic progressive external ophthalmoplegia (CPEO) , which consists of external ophthalmoplegia, bilateral ptosis, and proximal myopathy. (medscape.com)
  • Chronic progressive external ophthalmoplegia (CPEO) is a rare clinical syndrome characterized by slowly progressive paralysis of extraocular muscles. (geometry.net)
  • Chronic progressive external ophthalmoplegia (CPEO) is the most common characteristic of Kearns-Sayre syndrome, which is one member of the family of mitochondrial myopathies. (mitochondrialdiseasenews.com)
Pathophysiology1
Disease4
  • No disease-modifying therapy is available for Kearns-Sayre syndrome. (medscape.com)
  • Lowe oculocerebrorenal syndrome is an X-linked recessive disease whose locus has been assigned to Xp25. (nih.gov)
  • [ 1 ] However, in children, this condition most often has an idiopathic or genetic origin, such as 22q11.2 microdeletion syndrome, autoimmune polyglandular syn-drome type 1 (APS1), hypoparathyroidism-deafness-renal dysplasia (HDR) syndrome, hypoparathyroidism-retardation-dysmorphism (HRD) syndrome or mitochondrial disease. (medscape.com)
  • Some differential diagnostic opportunities like Fahr's disease or Kearn Sayre's syndrome were also considered. (journal-imab-bg.org)
Deletions1
  • Kearns Sayre Syndrome (OMIM #530000) occurs as a result of large-scale single deletions (or rearrangements) of mitochondrial DNA (mtDNA), which are usually not inherited but occur spontaneously, probably at the germ-cell level or very early in embryonic development. (medscape.com)
MELAS1
  • Yet another pattern of regional metabolic abnormality was present in the MELAS syndrome, where proton spectroscopic imaging demonstrated focal localization of abnormally increased lactate/creatine and decreased N -acetylaspartate/creatine to the regions of the stroke-like lesions on conventional MR images. (neurology.org)
Manifestations1
  • and mitochondrial myopathies, including Friedreich ataxia and Kearns-Sayre syndrome, with an emphasis on managing arrhythmic cardiac manifestations. (bvsalud.org)
Chronic1
  • Neuropsychological testing of patients with chronic progressive external ophthalmoplegia and Kearns-Sayre Syndrome reveals distinct frontal and parieto-occipital deficits. (mpg.de)
DeaFness1
Characteristic1
  • However, it remains unclear how these changes could cause the recurrent episodes characteristic of cyclic vomiting syndrome. (medlineplus.gov)
Occurs1
Disorders2
  • Turner syndrome must be differentiated from other similar conditions which lead to multiple endocrine disorders such as autoimmune polyendocrine syndrome , POEMS syndrome , Hirata syndrome, Kearns-Sayre syndrome and Wolfram syndromes . (wikidoc.org)
  • Autism spectrum disorders (ASDs) - which include autistic disorder, Asperger's Syndrome, and pervasive developmental disorder-not otherwise specified (PDD-NOS) - are defined by behavioral observations and characterized by impairments in communication and social interaction, along with restrictive and repetitive behaviors [1]. (autismfile.com)
Pearson1
  • in Pearson syndrome, mutations occur in hematopoietic cells, explaining the different clinical phenotypes. (medscape.com)
Leigh1
Consistent1
  • The regional brain metabolic abnormalities in patients with these syndromes showed different features consistent with the distinct phenotypes. (neurology.org)
Genetic1
  • Several genetic syndromes-such as Fragile X and Rett syndromes-have been associated with ASD, but scientific studies have found that genetic syndromes are only observed in a small percentage (6-15 percent) of children with ASD [3]. (autismfile.com)
Rare1
  • Duane syndrome (DS) is a rare, congenital eye movement disorder most commonly characterized by the inability of the eye to turn out. (bionity.com)
Horner2
  • The varieties most commonly encountered by an ophthalmologist are 3rd cranial nerve palsy and Horner syndrome. (nih.gov)
  • 21. What should be considered in a patient who has transient monocular vision loss and neck pain or ipsilateral Horner syndrome? (stanford.edu)
Abnormalities1
  • Turner's syndrome must be differentiated from other diseases that cause latency in secondary sexual characteristics development, such as constitutional delay of puberty , hypopituitarism , delayed puberty , and chromosomal abnormalities . (wikidoc.org)
22q111
Patients with the syndrome2
  • 11%). The investigators suggested therefore that formal electrophysiologic studies and prophylactic defibrillators be considered in patients with the syndrome. (medscape.com)
  • Few patients with the syndrome complain of diplopia when their eyes are misaligned. (bionity.com)
Features1
  • The clinical features of these syndromes have been extensively studied over the last decades. (biomedcentral.com)
Therapy1
  • Quintos JB, Hodax JK, Gonzales-Ellis BA, Phornphutkul C, Wajnrajch MP, Boney CM. Efficacy of growth hormone therapy in Kearns-Sayre syndrome: the KIGS experience. (umassmed.edu)
Occur1
Cases1
  • Some cases of cyclic vomiting syndrome, particularly those that begin in childhood, may be related to changes in mitochondrial DNA. (medlineplus.gov)