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

With the focus on an idiographic approach whereby the observations incorporated the various dimensions of individual functioning 'top-down' to 'bottom-up', this case report describes the successful management of a 14-year-old girl with Kearns-Sayre syndrome and Dyggve-Melchior-Clausen disease requiring a transvenous permanent pacemaker implantation for complete heart block. The patient presented to a tertiary care centre in Muscat, Oman, in 2023 seeking consultation. The current idiographic approach appears to have a heuristic value for 2 interrelated reasons.

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Progressive external ophthalmoplegia - A case report.

Indian J Pathol Microbiol

December 2023

Department of Pathology, SMS Medical College, Jaipur, Rajasthan, India.

Progressive external ophthalmoplegia is a slowly progressive hereditary mitochondrial myopathy. Most mitochondrial disorders overlap clinically, enzymatically, and genetically. The most common enzyme defect is the combined deficit of complexes I and IV.

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Genetic variation at HNRNPA2B1 is associated with inclusion body myopathy, Paget's disease and paediatric onset oculopharyngeal muscular dystrophy. We present a pedigree where a mother and two daughters presented with adolescent to early-adulthood onset of symptoms reminiscent of oculopharyngeal muscular dystrophy or chronic progressive external ophthalmoplegia, with a later limb-girdle pattern of weakness. Creatine Kinase was ∼1000 U/L.

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This is the case of a 51-year-old woman with chronic progressive external ophthalmoplegia (CPEO) alongside some comorbidities in a low-resource setting. This report seeks to sensitise clinicians about this rare condition in order to increase their index of suspicion and avoid misdiagnosis.

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Background: Progressive external ophthalmoplegia (PEO) is a common subtype of mitochondrial encephalomyopathy.

Objective: The study aimed to investigate the relationship between mitochondrial DNA (mtDNA) abnormalities, muscle pathology, and clinical manifestations in Chinese patients with single large-scale mtDNA deletion presenting with PEO.

Methods: This is a retrospective single-center study.

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Mitochondrial Dysfunction in Kidney Tubulopathies.

Annu Rev Physiol

February 2024

Department of Medical Biosciences, Radboud University Medical Center, Nijmegen, The Netherlands; email:

Article Synopsis
  • * High concentrations of mitochondria are found in the kidney's cortical regions, notably in the proximal and distal convoluted tubules, where dysfunction is linked to various tubulopathies such as Fanconi and Bartter-like syndromes.
  • * The review highlights that while mitochondrial dysfunction is known to influence kidney diseases, there is still a lack of research on the mechanisms behind this relationship, stressing the need for more studies on how mitochondrial function ties to renal electrolyte reabsorption.
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A novel intronic variant in ROBO3 associated with horizontal gaze palsy with progressive scoliosis: case report and literature review.

J AAPOS

December 2023

Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore; SingHealth Duke-NUS Genomic Medicine Centre, Singapore; SingHealth Duke-NUS Institute of Precision Medicine, Singapore. Electronic address:

Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare, autosomal recessive inherited disorder caused by mutations in ROBO3 gene. The clinical features of HGPPS include horizontal gaze palsy, progressive scoliosis, other oculomotor abnormalities such as strabismus and nystagmus. Whole-exome sequencing (WES) is used to diagnose rare Mendelian disorders, when routine standard tests have failed to make a formal pathological diagnosis.

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Background And Aims: Congenital myogenic ptosis (CMP), chronic progressive external ophthalmoplegia (CPEO), and facial nerve palsy (FNP) are among the disorders which can seriously affect the blink dynamics of patients. Smartphone videography is a simple, convenient, and inexpensive way to capture eyelid movement. This study has measured and compared a variety of blink dynamics in these patients compared to healthy controls using 2-dimensional smartphone videography to enhance the utility of this method in both clinical and research settings.

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Mitochondrial myopathy without extraocular muscle involvement: a unique clinicopathologic profile.

J Neurol

February 2024

Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital, Cheeloo College of Medicine, Shandong University, No. 107 West Wenhua Road, Jinan, 250012, Shandong, China.

Objective: Mitochondrial myopathy without extraocular muscles involvement (MiMy) represents a distinct form of mitochondrial disorder predominantly affecting proximal/distal or axial muscles, with its phenotypic, genotypic features, and long-term prognosis poorly understood.

Methods: A cross-sectional study conducted at a national diagnostic center for mitochondrial disease involved 47 MiMy patients, from a cohort of 643 mitochondrial disease cases followed up at Qilu Hospital from January 1, 2000, to January 1, 2021. We compared the clinical, pathological, and genetic features of MiMy to progressive external ophthalmoplegia (PEO) and mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) patients.

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Significance Statement: Several recent studies identified mitochondrial mutations in patients with Gitelman or Fanconi syndrome. Mitochondrial cytopathies are generally not considered in the diagnostic workup of patients with electrolyte disorders. In this systematic review, we investigated the presence of electrolyte disorders in patients with mitochondrial cytopathies to determine the relevance of mitochondrial mutation screening in this population.

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Myopathy and Ophthalmologic Abnormalities in Association With Multiple Skeletal Muscle Mitochondrial DNA Deletions.

J Neuroophthalmol

June 2024

Neuro-Ophthalmology Division (ARC, NRM), Department of Ophthalmology, Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland; GeneDx (HC, KA, AB, RB), Gaithersburg, Maryland; and Department of Genetic Medicine (HJV), Johns Hopkins University School of Medicine, Baltimore, Maryland.

Background: Establishing a molecular diagnosis of mitochondrial diseases due to pathogenic mitochondrial DNA (mtDNA) variants can be difficult because of varying levels of tissue heteroplasmy, and identifying these variants is important for clinical management. Here, we present clinical and molecular findings in 8 adult patients with classical features of mitochondrial ophthalmologic and/or muscle disease and multiple mtDNA deletions isolated to muscle.

Methods: The patients were identified via a retrospective review of patients seen in both a tertiary ophthalmology center and a genetics clinic with a clinical diagnosis of chronic progressive external ophthalmoplegia, optic nerve abnormalities, and/or mitochondrial myopathy.

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Advances in the Applications of Bioinformatics and Chemoinformatics.

Pharmaceuticals (Basel)

July 2023

Department of Clinical Pharmacy, Faculty of Pharmacy, Ain Shams University, Cairo P.O. Box 11566, Egypt.

Chemoinformatics involves integrating the principles of physical chemistry with computer-based and information science methodologies, commonly referred to as "in silico techniques", in order to address a wide range of descriptive and prescriptive chemistry issues, including applications to biology, drug discovery, and related molecular areas. On the other hand, the incorporation of machine learning has been considered of high importance in the field of drug design, enabling the extraction of chemical data from enormous compound databases to develop drugs endowed with significant biological features. The present review discusses the field of cheminformatics and proposes the use of virtual chemical libraries in virtual screening methods to increase the probability of discovering novel hit chemicals.

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A case of mitochondrial DNA depletion syndrome type 11 - expanding the genotype and phenotype.

Neuromuscul Disord

August 2023

Department of Neurological Sciences, Psychiatry and Medical Psychology, Fundação Faculdade Regional de Medicina São José do Rio Preto (FUNFARME), Brigadeiro Faria Lima Avenue, 5416, 15090-000 São José do Rio Preto, São Paulo, Brazil; Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), Ovídio Pires de Campos Street, 225, 05403-010 São Paulo, Brazil; Hospital Santa Marcelina, Department of Neurology, São Paulo, Brazil; Faculdade de Medicina Santa Marcelina (FASM), Department of Medical Clinic, São Paulo, Brazil. Electronic address:

Mitochondrial DNA depletion syndrome type 11 (MTDPS11) is caused by pathogenic variants in MGME1 gene. We report a woman, 40-year-old, who presented slow progressive drop eyelid at 11-year-old with, learning difficulty and frequent falls. Phisical examination revealed: mild scoliosis, elbow hyperextensibility, flat feet, chronic progressive external ophthalmoplegia with upper eyelid ptosis, diffuse hypotonia, and weakness of arm abduction and neck flexion.

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Outcome of silicone sling frontalis suspension in children with simple congenital and complex ptosis.

Can J Ophthalmol

August 2024

Division of Ophthalmology, Children's Hospital of Philadelphia and the Edwin and Fannie Gray Hall Center for Human Appearance, University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA.

Objective: To compare the outcome of silicone sling frontalis suspension (FS) surgery in children with simple congenital ptosis and children with complex ptosis.

Design: A retrospective cohort study.

Participants: All pediatric patients who underwent silicone sling FS surgery between 2009 and 2020 at a single centre.

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Background: Chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial disease with slowly progressive bilateral ptosis and symmetric ophthalmoplegia due to a genetic mutation that results in defective oxidative phosphorylation. Common genes that are implicated in CPEO include POLG, RRM2B, ANT1 and PEO1/TWNK. Here, we report a case of a patient diagnosed with CPEO caused by a novel mutation in PEO/TWNK after suffering a right pontine stroke.

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Background And Objectives: Mitochondrial diseases present as multi-system disorders requiring a comprehensive multidisciplinary approach. The data on healthcare resource utilization associated with mitochondrial diseases and the clinical drivers of these costs are limited including for the out-patient setting where the majority of the clinical care for mitochondrial disease patients occurs. We performed a cross-sectional retrospective study of out-patient healthcare resource utilization and costs for patients with a confirmed diagnosis of mitochondrial disease.

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Introduction: MRI of extra-ocular muscles (EOM) in patients with myasthenia gravis (MG) could aid in diagnosis and provide insights in therapy-resistant ophthalmoplegia. We used quantitative MRI to study the EOM in MG, healthy and disease controls, including Graves' ophthalmopathy (GO), oculopharyngeal muscular dystrophy (OPMD) and chronic progressive external ophthalmoplegia (CPEO).

Methods: Twenty recently diagnosed MG (59±19yrs), nineteen chronic MG (51±16yrs), fourteen seronegative MG (57±9yrs) and sixteen healthy controls (54±13yrs) were included.

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Bilateral lower extremity weakness and swelling can have several causes. Although often underdiagnosed, mitochondrial myopathy is more prevalent in the general population than more commonly suspected diseases, such as Guillain-Barre syndrome. The clinical manifestations of mitochondrial disease can be broadly classified into 3 categories: chronic progressive external ophthalmoplegia, skeletal muscle-central nervous system syndromes, or pure myopathy.

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Chronic progressive external ophthalmoplegia (CPEO) is symptom complex with progressive ptosis and restricted ocular motility without diplopia. MYH2 myopathy is rare disorder presenting with CPEO and muscle weakness. We report two Indian patients of MYH2 myopathy with unique features.

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Background: Kearns-Sayre syndrome (KSS) is caused by duplications and/or deletions of mitochondrial DNA (mtDNA) and is typically diagnosed based on a classic triad of symptoms with chronic progressive external ophthalmoplegia (CPEO), retinitis pigmentosa, and onset before age 20 years. The present study aimed to diagnose two patients, on suspicion of KSS.

Methods: One of the patients went through a diagnostic odyssey, with normal results from several mtDNA analyses, both in blood and muscle, before the diagnosis was confirmed genetically.

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RRM2B encodes the p53-inducible small subunit (p53R2) of ribonucleotide reductase, a key protein for mitochondrial DNA (mtDNA) synthesis. Pathogenic variants in this gene result in familial mitochondrial disease in adults and children, secondary to a maintenance disorder of mtDNA. This study describes two patients, mother and son, with early-onset chronic progressive external ophthalmoplegia (PEO).

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[One case of adult-onset dystonia presenting with chronic progressive external ophthalmoplegia].

Zhonghua Yan Ke Za Zhi

March 2023

Department of Endocrinology, People's Hospital of Xinjiang Uygur Autonomous Region, Xinjiang Clinical Research Center for Diabetes, Urumqi 830000, China.

We report a case of adult-onset dystonia presenting with chronic progressive external ophthalmoplegia. The patient had ptosis in both eyes, particularly the left eye, for no obvious reason since the age of 10, which was progressively aggravated. The clinical diagnosis was chronic progressive external ophthalmoplegia.

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