1,618 results match your criteria: "Chronic Progressive External Ophthalmoplegia"

Progressive external ophthalmoplegia.

Handb Clin Neurol

February 2023

Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, London, United Kingdom.

Progressive external ophthalmoplegia (PEO), characterized by ptosis and impaired eye movements, is a clinical syndrome with an expanding number of etiologically distinct subtypes. Advances in molecular genetics have revealed numerous pathogenic causes of PEO, originally heralded in 1988 by the detection of single large-scale deletions of mitochondrial DNA (mtDNA) in skeletal muscle of people with PEO and Kearns-Sayre syndrome. Since then, multiple point variants of mtDNA and nuclear genes have been identified to cause mitochondrial PEO and PEO-plus syndromes, including mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) and sensory ataxic neuropathy dysarthria ophthalmoplegia (SANDO).

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Macrocytosis in Mitochondrial DNA Deletion Syndromes.

Acta Haematol

June 2023

Adult Metabolic Diseases Clinic, Vancouver General Hospital and Department of Pathology and Laboratory Medicine, Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada.

Large single mitochondrial DNA (mtDNA) deletion syndrome is a rare inborn error of metabolism with variable heteroplasmy levels and clinical phenotype among affected individuals. Chronic progressive external ophthalmoplegia (CPEO) is the most common phenotype in adults with this form of mitochondrial disease [J Intern Med. 2020;287(6):592-608 and Biomed Rep.

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Chronic mimics of myasthenia gravis: a retrospective case series.

Neuromuscul Disord

March 2023

Neurology Department, Sunshine Coast University Hospital, 6 Doherty St, Birtinya Qld 4575, Australia; Griffith University, School of Medicine, Australia.

Myasthenia gravis often presents a diagnostic challenge and may be misdiagnosed, particularly in seronegative disease with active symptoms. We retrospectively evaluated 61 patients following the introduction of single fibre electromyography at our service, and identified 8 mimics which had been inappropriately diagnosed and treated as refractory myasthenia gravis. 6 of these were seronegative, but two had positive acetylcholine receptor (AChR) antibodies.

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KEARNS-SAYRE SYNDROME MASQUERADING AS MYASTHENIA GRAVIS.

Retin Cases Brief Rep

May 2024

Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts; and.

Purpose: Kearns-Sayre syndrome (KSS) is a mitochondrial DNA deletion syndrome that is characterized by the triad of onset commonly before age 20, pigmentary retinopathy, and chronic progressive external ophthalmoplegia. Here, we present a case of KSS masquerading as myasthenia gravis.

Methods: Case report.

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Article Synopsis
  • Chronic progressive external ophthalmoplegia (CPEO) plus syndrome is linked to genetic mutations in the TOP3A gene.
  • Previously, this condition had only been documented in one patient, but a new study reports two adult siblings with the same genetic variant.
  • The siblings both have a specific mutation in the TOP3A gene (c.614A>G), leading to CPEO plus syndrome.
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Article Synopsis
  • Patients with single large-scale mitochondrial DNA (mtDNA) deletion syndromes (SLSMDs) often suffer from serious multisystemic diseases like Pearson syndrome in childhood or Kearns-Sayre syndrome later on, and there's currently no effective treatment available.
  • A new approach called mitochondrial augmentation therapy (MAT) was tested on six patients with SLSMDs, where their own hematopoietic cells were infused with healthy maternal mitochondria.
  • The treatment showed safety, decreased harmful mtDNA levels in four patients, and increased mtDNA content in all six, alongside some improvements in aerobic function and quality of life measured by caregivers, suggesting a need for further clinical trials.
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Background: Mitochondrial disorders are known to cause diverse neurological phenotypes which cause a diagnostic challenge to most neurologists. Pathogenic polymerase gamma () variants have been described as a cause of chronic progressive external ophthalmoplegia, which manifests with ptosis, horizontal and vertical eye movement restriction and myopathy. Autosomal dominant progressive external ophthalmoplegia is rarely associated with Parkinsonism responsive to levodopa.

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A 48-year-old Japanese male experienced slowly progressive diplopia. He had no family history and was negative for the edrophonium chloride test. Blood analysis showed elevated lactic acid and pyruvic acid levels, suggesting mitochondrial disease.

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Mitochondrial disorders arise from DNA mutations in either the mitochondrial DNA (mtDNA) or nuclear DNA genomes. This article focuses on a mtDNA base-pair mutation associated with neuropathy, ataxia, and retinitis pigmentosa and Leigh syndrome and the large-scale mtDNA deletion associated with Kearns-Sayre syndrome. Disease sequelae and management strategies are reviewed, along with implications for the nurse practitioner in primary or specialty care.

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Prevention of sudden death in Kearns-Sayre syndrome requires prospective studies.

Pacing Clin Electrophysiol

December 2022

Biochemistry Laboratory, LR12ES05 "Nutrition-Functional Foods and Vascular Health", Faculty of Medicine, Monastir, Tunisia.

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Introduction: Diagnosing ocular myasthenia gravis (MG) can be challenging because serum antibodies are often not detected. We aimed to explore whether determining extraocular muscle (EOM) weakness using orthoptic measures, including an adapted Hess chart examination, can aid in diagnosing MG.

Methods: We conducted a prospective study among patients with acetylcholine receptor antibody positive MG (20 recently diagnosed, 19 chronic) and 14 seronegative MG patients.

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Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure.

Orphanet J Rare Dis

October 2022

Faculty of Life and Environmental Sciences and Graduate School of Life and Environmental Sciences, University of Tsukuba, Tsukuba, Ibaraki, Japan.

Pearson syndrome (PS) is a rare fatal mitochondrial disorder caused by single large-scale mitochondrial DNA deletions (SLSMDs). Most patients present with anemia in infancy. Bone marrow cytology with vacuolization in erythroid and myeloid precursors and ring-sideroblasts guides to the correct diagnosis, which is established by detection of SLSMDs.

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Background: Degeneration of the cardiac conduction system resulting in complete heart block (CHB), ventricular arrhythmias (VA), and sudden cardiac death (SCD) is recognized in patients with Kearns-Sayre syndrome (KSS) and is potentially preventable with permanent pacemaker (PPM) implantation. However, other mechanisms for SCD have been proposed, and the efficacy of implanting a defibrillator instead of PPM remains to be investigated.

Methods: We utilized the National Inpatient Sample (NIS) database 2016-2019 to investigate the risk of VA or dysrhythmic cardiac arrest (dCA) in KSS patients.

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Kearns-Sayre syndrome case. Novel 5,9 kb mtDNA deletion.

Mol Genet Genomic Med

January 2023

Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.

Background: Kearns-Sayre syndrome (KSS) is a rare multisystem mitochondrial disorder characterized by onset before 20 years of age and a typical clinical triad: progressive external ophthalmoplegia, pigmentary retinopathy and cardiac conduction anomalies. In most cases KSS is caused by spontaneous heteroplasmic single large-scale mitochondrial DNA (mtDNA) deletions. Long-range polymerase chain reaction (LR-PCR), next generation sequencing (NGS) and multiplex ligation-dependent probe amplification (MLPA) are the most widely applied methods for the identification of mtDNA deletions.

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Purpose: Surgical correction of myogenic ptosis is a sophisticated endeavor, as the disease is progressive and the post-operative course is prone to significant complications. We sought to review the literature for repair techniques in different types of myogenic ptosis.

Methods: A PubMed/MEDLINE literature search of publications pertaining to surgical outcomes of progressive myogenic ptosis repair was performed.

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Ophthalmoparesis and ptosis can be caused by a wide range of rare or more prevalent diseases, several of which can be successfully treated. In this review, we provide clues to aid in the diagnosis of these diseases, based on the clinical symptoms, the involvement pattern and imaging features of extra-ocular muscles (EOM). Dysfunction of EOM including the levator palpebrae can be due to muscle weakness, anatomical restrictions or pathology affecting the innervation.

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Mitochondria are intracellular organelles involved in a number of key biologic processes in the cell, including energy production, redox signaling, calcium homeostasis, inflammation, senescence, innate immune response, and mitophagy. Mitochondrial cytopathies include a heterogeneous group of diseases that are characterized by impaired oxidative phosphorylation, leading to multi-organ involvement and progressive clinical deterioration. Mitochondrial cytopathies can result from mitochondrial or nuclear DNA mutations.

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Primary mitochondrial myopathy: 12-month follow-up results of an Italian cohort.

J Neurol

December 2022

Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Pisa, Italy.

Objectives: To assess natural history and 12-month change of a series of scales and functional outcome measures in a cohort of 117 patients with primary mitochondrial myopathy (PMM).

Methods: Twelve months follow-up data of 117 patients with PMM were collected. We analysed the 6-min walk test (6MWT), timed up-and-go test (× 3) (3TUG), five-times sit-to-stand test (5XSST), timed water swallow test (TWST), and test of masticating and swallowing solids (TOMASS) as functional outcome measures; the Fatigue Severity Scale and West Haven-Yale Multidimensional pain inventory as patient-reported outcome measures.

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This case series describes the ocular and retinal manifestations of rare eye diseases in systemic syndromes. This observational case series consists of five patients with varied ophthalmic manifestations and documentation of imaging in rare pediatric and adult retinopathies. Two patients had Kearns Sayre syndrome (KSS) based on the classical triad of external ophthalmoplegia, pigmentary retinopathy, and onset before 20 years of age.

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Ophthalmologic school-based screening revealing Kearns-Sayre syndrome: a case report.

Pan Afr Med J

June 2022

Ophthalmology Department "A", Ibn Sina University Hospital (Hôpital des Spécialités), Mohammed V University, Rabat, Morocco.

Kearns-Sayre syndrome is a rare mitochondrial disorder. It had a triad of features, including progressive external ophthalmoplegia, pigmentary retinopathy, and an alteration of cardiac conduction. The ocular manifestations include bilateral ptosis, progressive external ophthalmoplegia, and atypical pigmentary retinopathy.

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Mitochondrial DNA (mtDNA) maintenance disorders embrace a broad range of clinical syndromes distinguished by the evidence of mtDNA depletion and/or deletions in affected tissues. Among the nuclear genes associated with mtDNA maintenance disorders, mutations produce a homogeneous phenotype, with progressive external ophthalmoplegia (PEO), ptosis, limb weakness, cerebellar ataxia, and dysphagia. The encoded enzyme, ribonuclease H1, is involved in mtDNA replication, whose impairment leads to an increase in replication intermediates resulting from mtDNA replication slowdown.

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