1,618 results match your criteria: "Chronic Progressive External Ophthalmoplegia"
Clin Case Rep
December 2024
Department of Pediatrics, Division of Child & Adolescent Neurology, Center for the Treatment of Pediatric Neurodegenerative Disease University of Texas McGovern Medical School Houston Texas USA.
This case series presents the use of elamipretide in two patients with different progressive mitochondrial disorders (chronic progressive external ophthalmoplegia [CPEO] plus and neuropathy, ataxia, and retinitis pigmentosa [NARP] syndrome) characterized by ophthalmic traits. Elamipretide was well tolerated and both patients demonstrated improvement in symptoms while on therapy.
View Article and Find Full Text PDFNeuroophthalmology
June 2024
Department of Brain Repair and Rehabilitation, Moorfields Eye Hospital NHS Foundation Trust, UCL, London, UK.
The ellipsoid zone (EZ) on macular optical coherence tomography (OCT) scans exhibits high intensity due to a high density of light-scattering mitochondria, making its reflectivity a potential marker for mitochondrial function. Here, we developed a reliable analysis tool for extracting relative EZ reflectivity and explore its potential as a biomarker in various diseases. We analysed OCT scans of patients with optic neuritis (ON), primary progressive optic neuropathy (PPON), chronic progressive external ophthalmoplegia (CPEO), dominant optic atrophy (DOA), and healthy controls.
View Article and Find Full Text PDFOrphanet J Rare Dis
November 2024
Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Pisa, Italy.
Neuromuscul Disord
December 2024
INMG-PGNM, UMR CNRS 5261 - INSERM U1315, Université Lyon 1, Lyon, France; Centre de Biotechnologie Cellulaire, Hospices Civils De Lyon, Lyon, France.
Pediatr Blood Cancer
January 2025
Division of Pediatric Hematology and Oncology, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel.
J Ophthalmic Vis Res
September 2024
Department of Ophthalmology and Visual Sciences, University of Louisville School of Medicine, Louisville, Kentucky, USA.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
October 2024
Department of Pediatrics, Women and Children's Hospital Affiliated to Ningbo University, Ningbo, Zhejiang 315012, China.
J Clin Med
August 2024
Department of Anaesthesiology and Intensive Care Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50937 Köln, Germany.
Background: Chronic progressive external ophthalmoplegia (CPEO) belongs to the group of mitochondrial encephalomyopathies. Anaesthesia for patients with CPEO may be associated with an increased risk due to known drug effects on mitochondrial metabolism. Therefore, the aim of this analysis was to evaluate anaesthesiological concepts in patients with CPEO requiring ophthalmic surgery.
View Article and Find Full Text PDFClin Genet
December 2024
Department of Neurology, Peking University First Hospital, Beijing, China.
Mitochondrial diseases (MtDs) present diverse clinical phenotypes, yet large-scale studies are hindered by their rarity. This retrospective, multicenter study, conducted across five Chinese hospitals' neurology departments from 2009 to 2019, aimed to address this gap. Nationwide, 1351 patients were enrolled, with a median onset age of 14.
View Article and Find Full Text PDFAm J Kidney Dis
January 2025
Service of Medical Genetics, São João University Hospital Center, Porto, Portugal; Unit of Genetics, Department of Pathology, Faculty of Medicine, University of Porto, Porto, Portugal; Group of Research and Development in Nephrology and Infectious Diseases, i3S-Institute for Research & Innovation in Health, University of Porto, Porto, Portugal. Electronic address:
Ann Clin Transl Neurol
August 2024
Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Objective: Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare, autosomal recessive disorder resulting from axonal midline crossing defect due to variants in ROBO3.
Methods: We retrospectively evaluated demographics, clinical phenotype, course of spinal deformities, and neuroimaging findings of six Turkish patients with HGPPS. We performed targeted gene testing by next-generation sequencing.
Front Cell Dev Biol
April 2024
Nuffield Department of Women's and Reproductive Health, University of Oxford, Oxford, United Kingdom.
Arch Plast Surg
March 2024
General Laboratory of Pathological Anatomy, CHU Ibn Rochd, Faculty of Medicine and Pharmacy, Hassan II University, Casablanca, Morocco.
Sultan Qaboos Univ Med J
February 2024
Neurology & Neurophysiology Center, Vienna, Austria.
Brain Commun
February 2024
Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA.
Mitochondrial myopathies are frequently recognized in childhood as part of a broader multisystem disorder and often overlooked in adulthood. Herein, we describe the phenotypic and genotypic spectrum and long-term outcomes of mitochondrial myopathies diagnosed in adulthood, focusing on neuromuscular features, electrodiagnostic and myopathological findings and survival. We performed a retrospective chart review of adult patients diagnosed with mitochondrial myopathy at Mayo Clinic (2005-21).
View Article and Find Full Text PDFZhong Nan Da Xue Xue Bao Yi Xue Ban
November 2023
Department of General Medicine, Xiangya Hospital, Central South University, Changsha 410008, China.
Mitochondrial myopathy is a group of multi-system diseases in which mitochondrial DNA (mtDNA) or nuclear DNA (nDNA) defects lead to structural and functional dysfunction of mitochondria. The clinical manifestations of mitochondrial myopathy are complex and varied, and the testing for mtDNA and nDNA is not widely available, so misdiagnosis or missed diagnosis is common. Chronic progressive external ophthalmoplegia (CPEO) is a common type of mitochondrial myopathy, which is characterized by blepharoptosis.
View Article and Find Full Text PDFBrain Sci
January 2024
Neuro-Ophthalmology Unit, Ibn Sina Hospital, Al-Bahar Ophthalmology Center, Kuwait City 70035, Kuwait.
Background: Chronic progressive external ophthalmoplegia (CPEO) is a rare disorder that can be at the forefront of several mitochondrial diseases. This review overviews mitochondrial CPEO encephalomyopathies to enhance accurate recognition and diagnosis for proper management.
Methods: This study is conducted based on publications and guidelines obtained by selective review in PubMed.
Zhonghua Xin Xue Guan Bing Za Zhi
February 2024
Department of Cardiology, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200092, China.
To explore the clinical manifestations and genotype of an infant with hyperuricemia, pulmonary hypertension, renal failure in infancy, and alkalosis syndrome (HUPRAS). Clinical data of the patient were collected. Peripheral blood samples from the patient and his parents were acquainted for whole exome sequencing.
View Article and Find Full Text PDFNeurology
March 2024
From the Division of General Neurology and Ataxia Unit, Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, Brazil.
J AAPOS
February 2024
Dr Rajendra Prasad Centre for Ophthalmic Sciences, AIIMS, New Delhi, India.
Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare autosomal recessive condition characterized by absence of abduction and adduction movements with intact vertical eye movements and progressive scoliosis. Patients usually present by mid-childhood with complaints of progressive scoliosis. The clinical diagnosis of HGPPS can be further confirmed by the ROBO3 gene mutation on chromosome number 11.
View Article and Find Full Text PDFFront Neurol
January 2024
Medicine Faculty, "Victor Babeş" University of Medicine and Pharmacy, Timișoara, Romania.
Background: Kearns-Sayre syndrome (KSS) is classified as one of the mitochondrial DNA (mtDNA) deletion syndromes with multisystemic involvement. Additionally, the negative prognosis is associated with inherited thrombophilia, which includes the presence of homozygous Factor V G1691A Leiden mutation, MTHFR gene polymorphisms C677T and A1298C, and PAI-1 675 homozygous genotype 5G/5G.
Case Presentation: This case report presents a 48-year-old man with chronic progressive external ophthalmoplegia, bilateral ptosis, cerebellar ataxia, cardiovascular signs (syncope, dilated cardiomyopathy, and cardiac arrest) with electrocardiographic abnormalities (first-degree atrioventricular block and major right bundle branch block), endocrine dysfunction (short stature, growth hormone insufficiency, primary gonadal insufficiency, hypothyroidism, and secondary hyperparathyroidism), molecular genetic tests (MT-TL2 gene), and abnormal MRI brain images, thus leading to the diagnosis of KSS.
Front Neurol
January 2024
The Fourth Clinical Medical College, Guangzhou University of Chinese Medicine, Shenzhen, China.
Chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial encephalomyopathy that is characterized by progressive ptosis and impaired ocular motility. Owing to its nonspecific clinical manifestations, CPEO is often misdiagnosed as other conditions. Herein, we present the case of a 34-year-old woman who primarily presented with incomplete left eyelid closure and limited bilateral eye movements.
View Article and Find Full Text PDFAnn Indian Acad Neurol
November 2023
Department of Neurology, Grant Government Medical College and J. J. Hospital, Mumbai, Maharashtra, India.
Mol Neurobiol
August 2024
Department of Medical Biochemistry, Oslo University Hospital, Rikshospitalet, Oslo, 0027, Norway.
Kearns-Sayre syndrome (KSS) is a rare multisystem mitochondrial disorder. It is caused by mitochondrial DNA (mtDNA) rearrangements, mostly large-scale deletions of 1.1-10 kb.
View Article and Find Full Text PDFNeurol India
January 2024
Department of Neurology, SCTIMST, Trivandrum, Kerala, India.
Objectives: Clinical spectrum of mitochondrial myopathy extends beyond chronic progressive external ophthalmoplegia (CPEO). While information on encephalomyopathies is abundant, clinical data on predominant myopathic presentation of mitochondrial disorders are lacking.
Materials And Methods: Clinical, electrophysiological, biochemical, and follow-up data of patients with predominant myopathic presentation and muscle biopsy confirmed primary mitochondrial myopathy was obtained.