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Congenital myasthenia

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https://www.readbyqxmd.com/read/28337097/neuromuscular-disease-mimicking-myasthenia-gravis-in-a-nigerian-female-adolescent-could-this-be-nemaline-rod-disease
#1
O A Oyinlade, I A Lagunju, B E Adebayo
BACKGROUND: Nemaline rod disease is a congenital myopathy, presentation of which may mimic myasthenia gravis. METHOD: We report a suspected case of nemaline rod disease in a female adolescent who presented with features similar to myasthenia gravis but failed to respond effectively to its conventional management. She had features of respiratory failure and cardiomyopathy. RESULTS: Patient had a turbulent clinical course and finally succumbed to illness on the fifth day of admission...
December 2016: Annals of Ibadan Postgraduate Medicine
https://www.readbyqxmd.com/read/28293536/early-onset-bilateral-juvenile-myasthenia-gravis-masquerading-as-simple-congenital-ptosis
#2
Md Shahid Alam, Pratheeba Devi Nivean
Myasthenia gravis is an autoimmune disorder affecting the neuromuscular junction. Ocular myasthenia gravis presents as ptosis with extraocular motility restriction and is prone to be misdiagnosed as third nerve palsy or congenital or aponeurotic ptosis. Juvenile ocular myasthenia gravis in very young children is difficult to diagnose and can be easily labeled as a case of congenital ptosis, the more so when the condition is bilateral. We present a case of a two-year-old child who presented with bilateral ptosis and was diagnosed as a case of simple congenital ptosis elsewhere with the advice to undergo tarsofrontalis sling surgery...
2017: GMS Ophthalmology Cases
https://www.readbyqxmd.com/read/28229291/a%C3%A2-patient-with-myasthenia-gravis-and-a%C3%A2-large-arachnoid-cyst-report-of-a%C3%A2-case
#3
Mira Bucuk, Iva Gasparovic, Ivan Sonnenschein, Olivio Perkovic
Myasthenia gravis is a chronic autoimmune disease characterized by weakening of voluntary muscles during the day and a marked restitution of function during the night and after rest. The symptoms may worsen over days or weeks, sometimes even in a few hours, and are usually well controlled by appropriate therapy. Arachnoid cysts are congenital or acquired deformities of the arachnoid membrane and are usually too small to cause distinct clinical symptomatology. We describe a case of a 76-year-old myasthenia gravis patient with an arachnoid cyst...
February 22, 2017: Wiener Klinische Wochenschrift
https://www.readbyqxmd.com/read/28221312/what-s-in-the-literature
#4
David Lacomis, Nicholas J Silvestri, Edward J Fine, Gil I Wolfe
In this edition of this column, we review new studies concerning the pathophysiology, treatment, and outcomes of patients with necrotizing myopathy, genetic testing in congenital myopathies, and limb girdle muscular dystrophies, and the incidence of polyneuropathy in the myotonic dystrophies. Various studies in myasthenia gravis, including those concerning antibody testing, clinical features, and quality of life are also reviewed as are recent findings in congenital myasthenic syndromes. Finally, 2 studies concerning polyneuropathy are discussed, including one on the association of polyneuropathy in patients with the metabolic syndrome and one on laboratory testing in patients with otherwise idiopathic small fiber polyneuropathy...
March 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28188302/vesicular-acetylcholine-transporter-defect-underlies-devastating-congenital-myasthenia-syndrome
#5
Adi Aran, Reeval Segel, Kota Kaneshige, Suleyman Gulsuner, Paul Renbaum, Scott Oliphant, Tomer Meirson, Ariella Weinberg-Shukron, Yair Hershkovitz, Sharon Zeligson, Ming K Lee, Abraham O Samson, Stanley M Parsons, Mary-Claire King, Ephrat Levy-Lahad, Tom Walsh
OBJECTIVE: To identify the genetic basis of a recessive congenital neurologic syndrome characterized by severe hypotonia, arthrogryposis, and respiratory failure. METHODS: Identification of the responsible gene by exome sequencing and assessment of the effect of the mutation on protein stability in transfected rat neuronal-like PC12(A123.7) cells. RESULTS: Two brothers from a nonconsanguineous Yemeni Jewish family manifested at birth with severe hypotonia and arthrogryposis...
March 14, 2017: Neurology
https://www.readbyqxmd.com/read/27966543/limb-girdle-myasthenia-with-digenic-rapsn-and-a-novel-disease-gene-ak9-mutations
#6
Ching-Wan Lam, Ka-Sing Wong, Ho-Wan Leung, Chun-Yiu Law
Though dysfunction of neuromuscular junction (NMJ) is associated with congenital myasthenic syndrome (CMS), the proteins involved in neuromuscular transmission have not been completely identified. In this study, we aimed to identify a novel CMS gene in a consanguineous family with limb-girdle type CMS. Homozygosity mapping of the novel CMS gene was performed using high-density single-nucleotide polymorphism microarrays. The variants in CMS gene were identified by whole-exome sequencing (WES) and Sanger sequencing...
February 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27861229/what-s-in-the-literature
#7
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
#8
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
#9
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
#10
EDITORIAL
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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