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Congenital myasthenia

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https://www.readbyqxmd.com/read/27861229/what-s-in-the-literature
#1
Nicholas J Silvestri, Gil I Wolfe, David Lacomis
In this edition, we focus on neuromuscular junction disorders and myopathy. The newly published international consensus guidelines for the management of myasthenia gravis are reviewed. In addition, various emerging treatment options for myasthenia, including the use of methotrexate, rituximab, subcutaneous immunoglobulin, and thymectomy, are discussed. Recent studies examining the clinical and genetic features of several forms of congenital myasthenia gravis are also highlighted. The clinical features and treatment of late-onset Pompe disease are reviewed, as are studies in facioscapulohumeral dystrophy, idiopathic inflammatory myopathies, and calpainopathy...
December 2016: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/27830186/copy-number-analysis-reveals-a-novel-multiexon-deletion-of-the-colq-gene-in-congenital-myasthenia
#2
Wei Wang, Yanhong Wu, Chen Wang, Jinsong Jiao, Christopher J Klein
Congenital myasthenic syndrome (CMS) is genetically and clinically heterogeneous.(1) Despite a considerable number of causal genes discovered, many patients are left without a specific diagnosis after genetic testing. The presumption is that novel genes yet to be discovered will account for the majority of such patients. However, it is also possible that we are neglecting a type of genetic variation: copy number changes (>50 bp) as causal for some of these patients. Next-generation sequencing (NGS) can simultaneously screen all known causal genes(2) and is increasingly being validated to have a potential to identify copy number changes...
December 2016: Neurology. Genetics
https://www.readbyqxmd.com/read/27706425/clinical-and-genetic-basis-of-congenital-myasthenic-syndromes
#3
Paulo Victor Sgobbi de Souza, Gabriel Novaes de Rezende Batistella, Valéria Cavalcante Lino, Wladimir Bocca Vieira de Rezende Pinto, Marcelo Annes, Acary Souza Bulle Oliveira
Neuromuscular junction disorders represent a wide group of neurological diseases characterized by weakness, fatigability and variable degrees of appendicular, ocular and bulbar musculature involvement. Its main group of disorders includes autoimmune conditions, such as autoimmune acquired myasthenia gravis and Lambert-Eaton syndrome. However, an important group of diseases include congenital myasthenic syndromes with a genetic and sometimes hereditary basis that resemble and mimick many of the classic myasthenia neurological manifestations, but also have different presentations, which makes them a complex clinical, therapeutic and diagnostic challenge for most clinicians...
September 2016: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/27706415/congenital-myasthenic-syndromes-and-myasthenia-gravis-are-challenging-diagnoses-in-neurological-practice
#4
Anamarli Nucci
No abstract text is available yet for this article.
September 2016: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/27685688/myasthenia-gravis-a-population-based-epidemiological-study
#5
S Rutledge, O Kenny, S O'Riordan, C McGuigan, N Tubridy
Myasthenia Gravis (MG) is a disorder affecting components of the neuromuscular junction. Epidemiological studies show rising incidence and prevalence rates. The aim of this study was to determine the incidence and prevalence of MG in the Republic of Ireland. Data sources included patient lists from consultant neurologists and ophthalmologists, a neuroimmunology laboratory, general practitioners and the Myasthenia Gravis Association. A total of 1715 cases were identified, of which 706 definite, probable or possible autoimmune and congenital MG cases were included...
2016: Irish Medical Journal
https://www.readbyqxmd.com/read/27375219/mutations-causing-slow-channel-myasthenia-reveal-that-a-valine-ring-in-the-channel-pore-of-muscle-achr-is-optimized-for-stabilizing-channel-gating
#6
Xin-Ming Shen, Tatsuya Okuno, Margherita Milone, Kenji Otsuka, Koji Takahashi, Hirofumi Komaki, Elizabeth Giles, Kinji Ohno, Andrew G Engel
We identify two novel mutations in acetylcholine receptor (AChR) causing a slow-channel congenital myasthenia syndrome (CMS) in three unrelated patients (Pts). Pt 1 harbors a heterozygous βV266A mutation (p.Val289Ala) in the second transmembrane domain (M2) of the AChR β subunit (CHRNB1). Pts 2 and 3 carry the same mutation at an equivalent site in the ε subunit (CHRNE), εV265A (p.Val285Ala). The mutant residues are conserved across all AChR subunits of all species and are components of a valine ring in the channel pore, which is positioned four residues above the leucine ring...
October 2016: Human Mutation
https://www.readbyqxmd.com/read/27286495/identification-of-myod-interactome-using-tandem-affinity-purification-coupled-to-mass-spectrometry
#7
Ekaterina Boyarchuk, Philippe Robin, Lauriane Fritsch, Véronique Joliot, Slimane Ait-Si-Ali
Skeletal muscle terminal differentiation starts with the commitment of pluripotent mesodermal precursor cells to myoblasts. These cells have still the ability to proliferate or they can differentiate and fuse into multinucleated myotubes, which maturate further to form myofibers. Skeletal muscle terminal differentiation is orchestrated by the coordinated action of various transcription factors, in particular the members of the Muscle Regulatory Factors or MRFs (MyoD, Myogenin, Myf5, and MRF4), also called the myogenic bHLH transcription factors family...
2016: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/27224441/what-s-in-the-literature
#8
Nicholas J Silvestri, Gil I Wolfe, Mark Bromberg, David Lacomis
One of the first questions asked by patients and family members when a diagnosis of amyotrophic lateral sclerosis is made is "what about stem cells?" The term "stem cells" has attractiveness to it, with the assumption that stem cell treatment (stem nerve cells) can replace lost nerve cells. There are perhaps 2 types of stem cell trials, those that are vetted by the Food and Drug Administration and those that have no official oversight and whose results are infrequently published. The issue of the latter was discussed in the last edition of this column...
June 2016: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/27080328/myasthenia-gravis-and-congenital-myasthenic-syndromes-in-dogs-and-cats-a-history-and-mini-review
#9
REVIEW
G Diane Shelton
Myasthenia gravis (MG) is a disorder of neuromuscular transmission in which muscle weakness results from an autoantibody mediated depletion of acetylcholine receptors (AChRs) at the neuromuscular junction. Myasthenia gravis occurs spontaneously in dogs and cats, and as in human MG, an autoimmune response against nicotinic AChRs has been demonstrated and autoantibodies against AChRs implicated in the pathogenesis. While both species are affected with MG, there are distinct differences in clinical presentations and frequency of spontaneous remission...
June 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27048647/mice-with-an-nav1-4-sodium-channel-null-allele-have-latent-myasthenia-without-susceptibility-to-periodic-paralysis
#10
Fenfen Wu, Wentao Mi, Yu Fu, Arie Struyk, Stephen C Cannon
Over 60 mutations of SCN4A encoding the NaV1.4 sodium channel of skeletal muscle have been identified in patients with myotonia, periodic paralysis, myasthenia, or congenital myopathy. Most mutations are missense with gain-of-function defects that cause susceptibility to myotonia or periodic paralysis. Loss-of-function from enhanced inactivation or null alleles is rare and has been associated with myasthenia and congenital myopathy, while a mix of loss and gain of function changes has an uncertain relation to hypokalaemic periodic paralysis...
June 2016: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/26910802/late-presentations-of-congenital-myasthenic-syndromes-how-many-do-we-miss
#11
Nidhi Garg, Con Yiannikas, Todd A Hardy, Katsiaryna Belaya, Jonathan Cheung, David Beeson, Stephen W Reddel
INTRODUCTION: Congenital myasthenic syndromes (CMS) usually present neonatally or in early childhood. When they present later, they may be mistaken for seronegative autoimmune myasthenia, and unnecessary immunosuppressive treatment may be administered. METHODS: Patients who met criteria for seronegative generalized myasthenia without congenital or early childhood onset, but with an affected sibling were tested for CMS associated genes using exome and Sanger sequencing...
October 2016: Muscle & Nerve
https://www.readbyqxmd.com/read/26721333/genetic-defects-in-the-hexosamine-and-sialic-acid-biosynthesis-pathway
#12
REVIEW
Anke P Willems, Baziel G M van Engelen, Dirk J Lefeber
BACKGROUND: Congenital disorders of glycosylation are caused by defects in the glycosylation of proteins and lipids. Classically, gene defects with multisystem disease have been identified in the ubiquitously expressed glycosyltransferases required for protein N-glycosylation. An increasing number of defects are being described in sugar supply pathways for protein glycosylation with tissue-restricted clinical symptoms. SCOPE OF REVIEW: In this review, we address the hexosamine and sialic acid biosynthesis pathways in sugar metabolism...
August 2016: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/26698174/investigation-of-congenital-myasthenia-reveals-functional-asymmetry-of-invariant-acetylcholine-receptor-achr-cys-loop-aspartates
#13
Xin-Ming Shen, Joan Brengman, David Neubauer, Steven M Sine, Andrew G Engel
We identify two heteroallelic mutations in the acetylcholine receptor δ-subunit from a patient with severe myasthenic symptoms since birth: a novel δD140N mutation in the signature Cys-loop and a mutation in intron 7 of the δ-subunit gene that disrupts splicing of exon 8. The mutated Asp residue, which determines the disease phenotype, is conserved in all eukaryotic members of the Cys-loop receptor superfamily. Studies of the mutant acetylcholine receptor expressed in HEK 293 cells reveal that δD140N attenuates cell surface expression and apparent channel gating, predicting a reduced magnitude and an accelerated decay of the synaptic response, thus reducing the safety margin for neuromuscular transmission...
February 12, 2016: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/26583494/anticholinesterase-therapy-worsening-head-drop-and-limb-weakness-due-to-a-novel-dok7-mutation
#14
Dominika Lozowska, Steven P Ringel, Thomas L Winder, Jie Liu, Teerin Liewluck
Dok-7 myasthenia is an autosomal recessive congenital myasthenic syndrome due to DOK7 mutations. Anticholinesterase therapy is ineffective and may worsen the weakness in patients with Dok-7 myasthenia or few other forms of congenital myasthenic syndromes. We describe a 31-year-old man previously diagnosed with seronegative myasthenia gravis. Repetitive stimulation of the right spinal accessory nerve showed 51% decrement. Needle electromyography revealed myopathic changes in clinically affected muscles. Muscle biopsy was normal...
December 2015: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/26547887/clinical-study-of-20-patients-with-incontinentia-pigmenti
#15
Claudia S Poziomczyk, Renan R Bonamigo, Fernanda D Santa Maria, Paulo R G Zen, Ana E Kiszewski
BACKGROUND: Incontinentia pigmenti (IP) is a rare genodermatosis with early prenatal lethality in affected males. Clinical manifestations are usually more exuberant in sporadic than in familial cases. Cutaneous manifestations occur in all sporadic cases and about 96% of familial cases. As well as the skin, other tissues arising from the neuroectoderm may be affected. OBJECTIVES: This study was designed to evaluate dermatologic, dental, neurologic, and ophthalmologic manifestations in patients with IP...
February 2016: International Journal of Dermatology
https://www.readbyqxmd.com/read/26363966/congenital-myasthenic-syndrome-due-to-mutation-in-chrne-gene-with-clinical-worsening-and-thymic-hyperplasia-attributed-to-association-with-autoimmune-myasthenia-gravis
#16
Ernestina Santos, Isabel Moreira, Ester Coutinho, Guilherme Gonçalves, Carlos Lopes, José Lopes Lima, M Isabel Leite
We report a patient with congenital myasthenic syndrome (CMS) due to mutation in CHRNE with symptoms since the age of 4; mild to moderate fatigable weakness involved mainly ocular, bulbar and limb muscles; functional impact of the disease in their development and physical activity was modest. By the age of 34, the patient experienced gradual worsening of fatigue with dyspnoea and pronounced limb weakness, requiring significant increase of pyridostigmine. Further, a remarkable and sustained clinical improvement followed thymectomy with hyperplastic thymus...
December 2015: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/26354438/lateral-diffusion-function-and-expression-of-the-slow-channel-congenital-myasthenia-syndrome-%C3%AE-c418w-nicotinic-receptor-mutation-with-changes-in-lipid-raft-components
#17
Jessica Oyola-Cintrón, Daniel Caballero-Rivera, Leomar Ballester, Carlos A Baéz-Pagán, Hernán L Martínez, Karla P Vélez-Arroyo, Orestes Quesada, José A Lasalde-Dominicci
Lipid rafts, specialized membrane microdomains in the plasma membrane rich in cholesterol and sphingolipids, are hot spots for a number of important cellular processes. The novel nicotinic acetylcholine receptor (nAChR) mutation αC418W, the first lipid-exposed mutation identified in a patient that causes slow channel congenital myasthenia syndrome was shown to be cholesterol-sensitive and to accumulate in microdomains rich in the membrane raft marker protein caveolin-1. The objective of this study is to gain insight into the mechanism by which lateral segregation into specialized raft membrane microdomains regulates the activable pool of nAChRs...
October 30, 2015: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/26296515/salbutamol-and-ephedrine-in-the-treatment-of-severe-achr-deficiency-syndromes
#18
Pedro M Rodríguez Cruz, Jacqueline Palace, Hayley Ramjattan, Sandeep Jayawant, Stephanie A Robb, David Beeson
OBJECTIVE: To evaluate the response to salbutamol and ephedrine in the treatment of congenital myasthenic syndromes due to CHRNE mutations causing severe acetylcholine receptor (AChR)deficiency. METHODS: A cohort study of 6 patients with severe AChR deficiency, symptomatic despite optimal therapy with anticholinesterase and 3,4-diaminopyridine, were analyzed for their response to the addition of salbutamol or ephedrine to their medication. Baseline quantitative myasthenia gravis (QMG) (severity) scores were worse than 15 of 39...
September 22, 2015: Neurology
https://www.readbyqxmd.com/read/26071838/lrp4-in-neuromuscular-junction-and-bone-development-and-diseases
#19
REVIEW
Chengyong Shen, Wen-Cheng Xiong, Lin Mei
Low-density lipoprotein receptor-related protein 4 (LRP4) is a member of the low-density lipoprotein receptor (LDLR) family. Recent studies have revealed multiple functions and complex signaling mechanisms of LRP4 in different organs and tissues. LPR4 mutation or malfunction has been implicated in neurological disorders including congenital myasthenic syndrome, myasthenia gravis, and diseases of bone or kidney. This article is part of a Special Issue entitled "Muscle Bone Interactions".
November 2015: Bone
https://www.readbyqxmd.com/read/26052878/impaired-synaptic-development-maintenance-and-neuromuscular-transmission-in-lrp4-related-myasthenia
#20
Duygu Selcen, Bisei Ohkawara, Xin-Ming Shen, Kathleen McEvoy, Kinji Ohno, Andrew G Engel
IMPORTANCE: Congenital myasthenic syndromes (CMS) are heterogeneous disorders. Defining the phenotypic features, genetic basis, and pathomechanisms of a CMS is relevant to prognosis, genetic counseling, and therapy. OBJECTIVES: To characterize clinical, structural, electrophysiologic, and genetic features of a CMS and to search for optimal therapy. DESIGN, SETTINGS, AND PARTICIPANTS: Two sisters with CMS affecting the limb-girdle muscles were investigated between 2012 and 2014 at an academic medical center by clinical observation, in vitro analysis of neuromuscular transmission, cytochemical and electron microscopy studies of the neuromuscular junction, exome sequencing, expression studies in HEK293 and COS7 cells, and for response to therapy, and they were compared with 15 historical control participants...
August 2015: JAMA Neurology
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