2,391 results match your criteria ophthalmoplegia myopathy

Clinical and molecular characterization of mitochondrial DNA disorders in a group of Argentinian pediatric patients.

Mol Genet Metab Rep 2021 Jun 25;27:100733. Epub 2021 Feb 25.

Department of Medical Genetics, Hospital de Pediatría "Juan P. Garrahan", Combate de los Pozos 1881, Buenos Aires 1245, Argentina.

Objective: To describe the clinical and molecular features of a group of Argentinian pediatric patients with mitochondrial DNA (mtDNA) disorders, and to evaluate the results of the implementation of a classical approach for the molecular diagnosis of mitochondrial diseases.

Methods: Clinical data from 27 patients with confirmed mtDNA pathogenic variants were obtained from a database of 89 patients with suspected mitochondrial disease, registered from 2014 to 2020. Clinical data, biochemical analysis, neuroimaging findings, muscle biopsy and molecular studies were analyzed. Read More

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Clinico-pathological and Molecular Spectrum of Mitochondrial Polymerase γ Mutations in a Cohort from India.

J Mol Neurosci 2021 Jan 19. Epub 2021 Jan 19.

Department of Neuropathology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.

Polymerase γ catalytic subunit (POLG), a nuclear gene, encodes the enzyme responsible for mitochondrial DNA (mtDNA) replication. POLG mutations are a major cause of inherited mitochondrial diseases. They present with varied phenotypes, age of onset, and severity. Read More

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January 2021

[Orbital Compartment Syndrome Perhaps Secondary to Intra-Orbital Fluid Retention and Orbital/Palpebral Emphysema Following Frontotemporal Craniotomy for an Unruptured Cerebral Aneurysm:A Case Report].

No Shinkei Geka 2020 Dec;48(12):1129-1138

Department of Neurosurgery, National Hospital Organization Nagasaki Medical Center.

A 58-year-old woman underwent left frontotemporal craniotomy for clipping of an unruptured cerebral aneurysm. A small defect was accidentally created in the orbital roof intraoperatively. The patient developed left eyelid edema and ocular pain after recovery from anesthesia. Read More

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December 2020

Fourier-Transform Infrared Spectroscopy of Skeletal Muscle Tissue: Expanding Biomarkers in Primary Mitochondrial Myopathies.

Genes (Basel) 2020 Dec 19;11(12). Epub 2020 Dec 19.

Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.

Primary mitochondrial myopathies (PMM) are a group of mitochondrial disorders characterized by a predominant skeletal muscle involvement. The aim of this study was to evaluate whether the biochemical profile determined by Fourier-transform infrared (FTIR) spectroscopic technique would allow to distinguish among patients affected by progressive external ophthalmoplegia (PEO), the most common PMM presentation, oculopharyngeal muscular dystrophy (OPMD), and healthy controls. Thirty-four participants were enrolled in the study. Read More

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December 2020

CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations.

Acta Neuropathol Commun 2020 11 25;8(1):204. Epub 2020 Nov 25.

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawahigashi, Kodaira, Tokyo, 187-8502, Japan.

Oculopharyngodistal myopathy (OPDM) is a rare hereditary muscle disease characterized by progressive distal limb weakness, ptosis, ophthalmoplegia, bulbar muscle weakness and rimmed vacuoles on muscle biopsy. Recently, CGG repeat expansions in the noncoding regions of two genes, LRP12 and GIPC1, have been reported to be causative for OPDM. Furthermore, neuronal intranuclear inclusion disease (NIID) has been recently reported to be caused by CGG repeat expansions in NOTCH2NLC. Read More

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November 2020

Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature.

Skelet Muscle 2020 11 16;10(1):32. Epub 2020 Nov 16.

Department of Pharmacology and Physiology, University of Rochester Medical Center, Rochester, NY, USA.

The RYR1 gene, which encodes the sarcoplasmic reticulum calcium release channel or type 1 ryanodine receptor (RyR1) of skeletal muscle, was sequenced in 1988 and RYR1 variations that impair calcium homeostasis and increase susceptibility to malignant hyperthermia were first identified in 1991. Since then, RYR1-related myopathies (RYR1-RM) have been described as rare, histopathologically and clinically heterogeneous, and slowly progressive neuromuscular disorders. RYR1 variants can lead to dysfunctional RyR1-mediated calcium release, malignant hyperthermia susceptibility, elevated oxidative stress, deleterious post-translational modifications, and decreased RyR1 expression. Read More

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November 2020

Anesthetic management of Kearns-Sayre syndrome. Case report.

Rev Esp Anestesiol Reanim 2021 Apr 5;68(4):232-234. Epub 2020 Nov 5.

Servicio de Urgencias, Hospital Obispo Polanco, Teruel, España.

Kearns-Sayre syndrome is a mitochondrial myopathy characterized by ophthalmoplegia, pigmentary retinopathy and cardiac conduction abnormalities. This article describes the clinical management of a 50-year-old patient with Kearns-Sayre syndrome who underwent subarachnoid anesthesia for a traumatic femoral fracture surgery. Read More

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Mutation Load of Single, Large-Scale Deletions of mtDNA in Mitotic and Postmitotic Tissues.

Front Genet 2020 2;11:547638. Epub 2020 Oct 2.

Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.

It is generally accepted that patients with chronic progressive ophthalmoplegia caused by single large-scale deletion (SLD) of mitochondrial DNA (mtDNA) only harbor mutation in skeletal and eye muscles. The aim of this study was to investigate the presence and the level of heteroplasmy of mtDNA deletions in mitotic tissues of patients displaying mtDNA deletion of mitotic tissues in patients with SLDs and pure muscle phenotype. MtDNA mutation load was studied in three mitotic (urine epithelial cells, buccal mucosa, and blood) and one postmitotic (skeletal muscle) tissues in 17 patients with SLDs of mtDNA and pure muscle involvement. Read More

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October 2020

Clinical Profile and Outcome of Pediatric Mitochondrial Myopathy in China.

Front Neurol 2020 8;11:1000. Epub 2020 Sep 8.

Neurology Department, Children's Hospital of Fudan University, Shanghai, China.

Mitochondrial myopathy in children has notable clinical and genetic heterogeneity, but detailed data is lacking. In this study, we retrospectively reviewed the clinical presentation, laboratory investigation, genetic and histopathological characteristics, and follow-ups of 21 pediatric mitochondrial myopathy cases from China. Twenty-four patients suspected with mitochondrial myopathy were enrolled initially and 21 were genetically identified. Read More

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September 2020

Response to Finsterer re: "Clinical Phenotype and Genetic Features of a Pair of Chinese Twins with Kearns-Sayre Syndrome".

DNA Cell Biol 2020 10 28;39(10):1908-1911. Epub 2020 Sep 28.

ENT Institute and Otolaryngology Department of Eye & ENT Hospital, State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, Fudan University, Shanghai, China.

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October 2020

Re: "Clinical Phenotype and Genetic Features of a Pair of Chinese Twins with Kearns-Sayre Syndrome" by Guo

Josef Finsterer

DNA Cell Biol 2020 10 1;39(10):1907-1908. Epub 2020 Sep 1.

Krankenanstalt Rudolfstiftung, Messerli Institute, Vienna, Austria.

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October 2020

Progressive external ophthalmoplegia associated with novel MT-TN mutations.

Acta Neurol Scand 2021 Jan 19;143(1):103-108. Epub 2020 Sep 19.

Department of Laboratory Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.

Objectives: To describe two patients with progressive external ophthalmoplegia (PEO) and mitochondrial myopathy associated with mutations in mitochondrial DNA, encoding the tRNA gene (MT-TN), which have not previously been published with clinical descriptions.

Materials & Methods: Two unrelated patients with PEO were clinically examined. Muscle biopsy was performed and investigated by exome sequencing, enzyme histochemistry, and immunohistochemistry. Read More

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January 2021

Clinicogenetical Variants of Progressive External Ophthalmoplegia - An Especial Review of Non-ophthalmic Manifestations.

Neurol India 2020 Jul-Aug;68(4):760-768

Department of Neurology, Zanjan University of Medical Sciences, Vali-e-Asr Hospital, Zanjan, Iran.

Progressive external ophthalmoplegia (PEO) is a slowly progressive myopathy characterized by extraocular muscles involvement, leading to frozen eyes without diplopia. The pattern of inheritance may be mitochondrial, autosomal dominant or, rarely, autosomal recessive. Sporadic forms were also reported. Read More

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X-linked myotubular myopathy mimics hereditary spastic paraplegia in two female manifesting carriers of pathogenic MTM1 variant.

Eur J Med Genet 2020 Nov 14;63(11):104040. Epub 2020 Aug 14.

PEDEGO Research Unit, Medical Research Center and Department of Clinical Genetics, University of Oulu and Oulu University Hospital, Oulu, Finland. Electronic address:

X-linked myotubular myopathy (XLMTM) is a rare congenital myopathy caused by pathogenic variants in the myotubularin 1 (MTM1) gene. XLMTM leads to severe weakness in male infants and majority of them die in the early postnatal period due to respiratory failure. Disease manifestations in female carriers vary from asymptomatic to severe, generalized congenital weakness. Read More

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November 2020

Clinical Reasoning: A 64-year-old woman with progressive leg weakness and ophthalmoplegia.

Neurology 2020 10 17;95(15):e2170-e2173. Epub 2020 Jul 17.

From the Adult Neurology Residency Training Program, Division of Neurology, Department of Medicine (R.T.M.), and Division of Neurology, Department of Medicine, Sunnybrook Health Sciences Centre (R.T.M., A.A., D.F., L.Z.), University of Toronto, Canada.

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October 2020

New Compound Heterozygous Splice Site Mutations of the Skeletal Muscle Ryanodine Receptor () Gene Manifest Fetal Akinesia: A Linkage with Congenital Myopathies.

Mol Syndromol 2020 Jun 1;11(2):104-109. Epub 2020 Apr 1.

2nd Department of Obstetrics and Gynecology, Aretaieio Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.

Mutations in the skeletal muscle ryanodine receptor () gene have been linked to malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. is an intracellular calcium release channel and plays a crucial role in the sarcoplasmic reticulum and transverse tubule connection. Here, we report 2 fetuses from the same parents with compound heterozygous mutations in the gene (c. Read More

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Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions.

Hum Mutat 2020 Jul 11. Epub 2020 Jul 11.

Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.

Biallelic mutations in the C1QBP gene have been associated with mitochondrial cardiomyopathy and combined respiratory-chain deficiencies, with variable onset (including intrauterine or neonatal forms), phenotypes, and severity. We studied two unrelated adult patients from consanguineous families, presenting with progressive external ophthalmoplegia (PEO), mitochondrial myopathy, and without any heart involvement. Muscle biopsies from both patients showed typical mitochondrial alterations and the presence of multiple mitochondrial DNA deletions, whereas biochemical defects of the respiratory chain were present only in one subject. Read More

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Clinical Phenotype and Genetic Features of a Pair of Chinese Twins with Kearns-Sayre Syndrome.

DNA Cell Biol 2020 Aug 29;39(8):1449-1457. Epub 2020 Jun 29.

State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, ENT Institute and Otorhinolaryngology Department, Fudan University Eye & ENT Hospital, Shanghai, People's Republic of China.

Kearns-Sayre Syndrome (KSS) is a severe mitochondrial disorder involving the central nervous system, eyes, ears, skeletal muscles, and heart. The mitochondrial DNA (mtDNA) rearrangements, especially the deletions, are present in almost all KSS patients and considered as the disease-causing factor. However, the size and position of mtDNA deletions are distinct in different individuals. Read More

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Eyelid ptosis (Blepharoptosis) for the primary care practitioner.

Dis Mon 2020 Oct 27;66(10):101040. Epub 2020 Jun 27.

Department of Ophthalmology and Visual Science, University of Chicago, Chicago, IL, United States; Department of Surgery, Northshore University HealthSystem, 2050 Pfingsten Rd., Ste. 280, Glenview, Evanston, IL 60026, United States. Electronic address:

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October 2020

Mutation in 3 Gene in Patients with Horizontal Gaze Palsy with Progressive Scoliosis Syndrome: A Systematic Review.

Int J Environ Res Public Health 2020 06 22;17(12). Epub 2020 Jun 22.

Department of Physics of Condensed Matter, Optics Area, University of Seville, 41012 Seville, Spain.

Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare, inherited disorder characterized by a congenital absence of conjugate horizontal eye movements with progressive scoliosis developing in childhood and adolescence. Mutations in the Roundabout (3) gene located on chromosome 11q23-25 are responsible for the development of horizontal gaze palsy and progressive scoliosis. However, some studies redefined the locus responsible for this pathology to a 9-cM region. Read More

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MYH2 myopathy, a new case expands the clinical and pathological spectrum of the recessive form.

Mol Genet Genomic Med 2020 09 24;8(9):e1320. Epub 2020 Jun 24.

Neuromuscular and Rare diseases Unit, Department of Neuroscience, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

Background: Hereditary myosin myopathies are a group of rare muscle disorders, caused by mutations in genes encoding for skeletal myosin heavy chains (MyHCs). MyHCIIa is encoded by MYH2 and is expressed in fast type 2A and 2B muscle fibers. MYH2 mutations are responsible for an autosomal dominant (AD) progressive myopathy, characterized by the presence of rimmed vacuoles and by a reduction in the number and size of type 2A fibers, and a recessive early onset myopathy characterized by complete loss of type 2A fibers. Read More

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September 2020

Rod bipolar cell dysfunction in POLG retinopathy.

Doc Ophthalmol 2021 Feb 21;142(1):111-118. Epub 2020 Jun 21.

Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.

Objective: To report the clinical and novel electrophysiological features in a child with POLG-related sensory ataxic neuropathy, dysarthria and ophthalmoparesis (SANDO).

Methods: The proband, a male child of Indian descent, underwent serial systemic and ophthalmological evaluations from birth until 14 years of age. Eye examinations included visual acuity and extraocular movement assessments, fundus photography, spectral domain optical coherence tomography and full-field electroretinography (ERG). Read More

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February 2021

The Novel Compound Heterozygous Mutations of Identified in a Family with Distal Arthrogryposis Type 5D.

Biomed Res Int 2020 23;2020:2149342. Epub 2020 May 23.

School of Life Sciences, Central South University, Changsha, China.

Introduction: Distal arthrogryposis type 5D (DA5D) is an autosomal recessive disease. The clinical symptoms include contractures of the joints of limbs, especially camptodactyly of the hands and/or feet, unilateral ptosis, a round-shaped face, arched eyebrows, and micrognathia, without ophthalmoplegia. is a DA5D causative gene that encodes a membrane-bound metalloprotease. Read More

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Atypical case of Miller-Fisher syndrome presenting with severe dysphagia and weight loss.

BMJ Case Rep 2020 May 27;13(5). Epub 2020 May 27.

Internal Medicine, Yale School of Medicine, New Haven, Connecticut, USA

A 71-year-old man developed dysphagia, bilateral lower extremity muscle weakness and weight loss. He was admitted to the hospital after a failed formal swallow evaluation, nearly 3 weeks after symptom onset. In addition to dysphagia and weakness, physical examination was notable for hypophonia, dysarthria, diplopia, horizontal ophthalmoparesis, ptosis, ataxia and hyporeflexia. Read More

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Paroxysmal oculogyric dystonia associated with a de novo 3q29 microdeletion.

Psychiatr Genet 2020 08;30(4):119-123

Massachusetts General Hospital.

3q29 deletion syndrome is caused by a heterozygous 1.6 Mb deletion on chromosome 3, which occurs in about 1 in 30 000 births. Phenotypic features of this syndrome include mild-to-moderate intellectual disability, autism spectrum disorder, slightly dysmorphic facial features, ataxic gait, and chest-wall deformity. Read More

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Congenital Ophthalmoplegia and Late-Onset Limb Weakness Caused by MUSK Mutations.

J Clin Neuromuscul Dis 2020 Jun;21(4):222-224

Neurology Department, Neuromuscular Unit, Hospital Universitario 12 de Octubre, Madrid, Spain; and.

Congenital myasthenic syndromes are clinically and genetically heterogeneous disorders characterized by a neuromuscular transmission defect. Mutations in novel genes have been described in recent years. Among these, MUSK gene mutations are extremely rare, with only 8 families identified worldwide to date. Read More

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Case 278: Mutation in Gene-Horizontal Gaze Palsy and Progressive Scoliosis.

Radiology 2020 06;295(3):736-740

From the Division of Neuroradiology, Department of Diagnostic Imaging, Santa Casa de Misericórdia de São Paulo, Rua Dr Cesário Motta Júnior 112, Vila Buarque, São Paulo, SP 01009-972, Brazil (F.A.S., F.T.P., R.H.N., A.J.d.R.); and Divisions of Neuroradiology (F.A.S., F.T.P., R.H.N., A.S., A.J.d.R.) and Genetics (M.P.M.), Diagnósticos da América SA, São Paulo, Brazil.

HistoryA 13-year-old girl was born to consanguineous parents. She presented with mild intellectual impairment, convergent strabismus, horizontal gaze palsy, and bilateral abducens palsy. Vertical gaze was preserved, and no abnormalities suggesting facial paralysis were noted. Read More

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Response to "Relation between intra-mitochondrial inclusions and pathophysiology of mitochondrial myopathy remains unprecise".

J Neurol Sci 2020 07 11;414:116895. Epub 2020 May 11.

Department of Medicine/Neurology, Hamilton, Ontario, Canada; Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada.

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Parkinsonism with newly diagnosed flare-up rheumatoid arthritis mimicking progressive supranuclear palsy.

Neurol India 2020 Mar-Apr;68(2):481-482

Department of Neurology, Kaohsiung Medical University Hospital, Kaohsiung Medical University; Department of Neurology, School of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.

In order to make a correct diagnosis of idiopathic Parkinson's disease (PD), it is essential to exclude atypical parkinsonian features, such as early dementia, fall, and autonomic dysfunction. Rheumatoid arthritis (RA), which is a systemic inflammatory disorder, although most patients present in a polyarticular manner. Still some may also present with extra-articular involvement including skin, lung, heart, and the central or peripheral nervous systems. Read More

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Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy.

Am J Hum Genet 2020 06 14;106(6):793-804. Epub 2020 May 14.

Department of Neurology, Peking University First Hospital, Beijing 100034, China. Electronic address:

Oculopharyngodistal myopathy (OPDM) is an adult-onset inherited neuromuscular disorder characterized by progressive ptosis, external ophthalmoplegia, and weakness of the masseter, facial, pharyngeal, and distal limb muscles. The myopathological features are presence of rimmed vacuoles (RVs) in the muscle fibers and myopathic changes of differing severity. Inheritance is variable, with either putative autosomal-dominant or autosomal-recessive pattern. Read More

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