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Congenital myasthenia

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https://www.readbyqxmd.com/read/29655455/congenital-myasthenic-syndromes
#1
REVIEW
Perry B Shieh, Shin J Oh
The congenital myasthenic syndromes (CMS) are a group of rare genetic conditions characterized by abnormal neuromuscular transmission. Typically, these conditions have been the result of a dysfunctional protein that is present in the presynaptic terminal, the synaptic cleft, or the postsynaptic terminal. Many of these syndromes present within the first few years of life with fluctuating and fatiguable weakness in a distribution similar to myasthenia gravis, although a limb-girdle distribution and late onset are also seen in certain specific types of CMS...
May 2018: Neurologic Clinics
https://www.readbyqxmd.com/read/29626165/collagen-xiii-is-required-for-neuromuscular-synapse-regeneration-and-functional-recovery-after-peripheral-nerve-injury
#2
Zarin Zainul, Anne Heikkinen, Hennariikka Koivisto, Iina Rautalahti, Mika Kallio, Shuo Lin, Heli Härönen, Oula Norman, Markus A Rüegg, Heikki Tanila, Taina Pihlajaniemi
Collagen XIII occurs as both a transmembrane-bound and a shed extracellular protein, and is able to regulate the formation and function of neuromuscular synapses. Its absence results in myasthenia, i.e. pre-and postsynaptic defects at the neuromuscular junction (NMJ), leading to destabilization of the motor nerves, muscle regeneration and atrophy. Mutations in COL13A1 have recently been found to cause congenital myasthenic syndrome (CMS), characterized by fatigue and chronic muscle weakness, which may be lethal...
April 6, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29518833/-clinical-and-genetic-characteristics-of-congenital-myasthenia-syndrome-with-episodic-apnea-caused-by-chat-gene-mutation-a-report-of-2-cases
#3
Z M Liu, F Fang, C H Ding, W H Zhang, J Deng, C H Chen, X Wang, J Liu, Z Li, X L Jia, J S Zeng, S Y Qian
Objective: To investigate the clinical and genetic features of congenital myasthenia syndrome with episodic apnea (CMS-EA) caused by gene mutation of choline acetyltransferase (CHAT) Methods: The clinical data of 2 patients with congenital myasthenia syndrome were collected, and both were diagnosed from 2013 to 2015 in Beijing Children's Hospital, Capital Medical University. The clinical features and gene mutation characteristics were analyzed, and the patients were followed-up for therapeutic efficacy. Results: The two patients (case 1 and case 2) had the onset soon after birth and at 3 months after birth respectively...
March 2, 2018: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29395672/dok7-myasthenic-syndrome-with-subacute-adult-onset-during-pregnancy-and-partial-response-to-fluoxetine
#4
Mariana Santos, Simão Cruz, João Peres, Luís Santos, Purificação Tavares, Jorge Pinto Basto, Vasco Salgado, Ana Herrero Valverde
DOK7 congenital myasthenic syndrome (DOK7-CMS) generally presents early in life and is treated with salbutamol or ephedrine. This report describes an atypical case of a 39-year-old woman who presented with proximal upper limb weakness in the third trimester of pregnancy and was initially diagnosed with seronegative myasthenia gravis. Dramatic clinical worsening under pyridostigmine and further inefficacy of steroids, intravenous human immunoglobulin (IVIG) and plasma exchange (PLEX) led to the presumptive diagnosis of a CMS...
December 13, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29381222/therapeutic-strategies-for-congenital-myasthenic-syndromes
#5
REVIEW
Manon Lee, David Beeson, Jacqueline Palace
To date, more than 25 genes have been implicated in the etiology of the congenital myasthenic syndromes (CMS), and an ever-growing phenotypic landscape is now encountered in the CMS clinic. Unlike the autoimmune form of myasthenia, there is no role for immunomodulatory agents in the treatment of CMS. The present-day drug repertoire comprises acetylcholinesterase inhibitors (mainly pyridostigmine), 3,4-diaminopyridine (3,4-DAP), ephedrine, salbutamol/albuterol, open-channel blockers (fluoxetine, quinidine), or a combination of these...
January 2018: Annals of the New York Academy of Sciences
https://www.readbyqxmd.com/read/29367459/mutations-causing-congenital-myasthenia-reveal-principal-coupling-pathway-in-the-acetylcholine-receptor-%C3%AE%C2%B5-subunit
#6
Xin-Ming Shen, Joan M Brengman, Shelley Shen, Hacer Durmus, Veeramani Preethish-Kumar, Nur Yuceyar, Seena Vengalil, Atchayaram Nalini, Feza Deymeer, Steven M Sine, Andrew G Engel
We identify 2 homozygous mutations in the ε-subunit of the muscle acetylcholine receptor (AChR) in 3 patients with severe congenital myasthenia: εR218W in the pre-M1 region in 2 patients and εE184K in the β8-β9 linker in 1 patient. Arg218 is conserved in all eukaryotic members of the Cys-loop receptor superfamily, while Glu184 is conserved in the α-, δ-, and ε-subunits of AChRs from all species. εR218W reduces channel gating efficiency 338-fold and AChR expression on the cell surface 5-fold, whereas εE184K reduces channel gating efficiency 11-fold but does not alter AChR cell surface expression...
January 25, 2018: JCI Insight
https://www.readbyqxmd.com/read/29301152/a-5-year-follow-up-of-triple-seronegative-myasthenia-gravis-successfully-treated-with-tacrolimus-therapy
#7
Takenori Tozawa, Akira Nishimura, Tamaki Ueno, Daisuke Kaneda, Yuri Miyanomae, Tomohiro Chiyonobu, Masafumi Morimoto, Hajime Hosoi
Seronegative myasthenia gravis (MG) is a generalized form of MG that is diagnosed on the basis of clinical symptoms, electrophysiological testing, and pharmacological responses, in the absence of a seropositive status for anti-acetylcholine receptor (AChR) antibodies. Generalized MG that is seronegative for anti-AChR, anti-muscle-specific kinase (MuSK), and anti-low density lipoprotein receptor related protein 4 (Lrp4) antibodies is known as triple-seronegative MG. We here describe a case of triple-seronegative MG in an 8-year-old boy...
January 4, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29195055/neuromuscular-junction-formation-aging-and-disorders
#8
Lei Li, Wen-Cheng Xiong, Lin Mei
Synapses, the fundamental unit in neuronal circuits, are critical for learning and memory, perception, thinking, and reaction. The neuromuscular junction (NMJ) is a synapse formed between motoneurons and skeletal muscle fibers that is covered by Schwann cells (SCs). It is essential for controlling muscle contraction. NMJ formation requires intimate interactions among motoneurons, muscles, and SCs. Deficits in NMJ formation and maintenance cause neuromuscular disorders, including congenital myasthenic syndrome and myasthenia gravis...
February 10, 2018: Annual Review of Physiology
https://www.readbyqxmd.com/read/29130637/how-chromosomal-deletions-can-unmask-recessive-mutations-deletions-in-10q11-2-associated-with-chat-or-slc18a3-mutations-lead-to-congenital-myasthenic-syndrome
#9
Mathias Schwartz, Damien Sternberg, Sandra Whalen, Alexandra Afenjar, Arnaud Isapof, Brigitte Chabrol, Marie-France Portnoï, Solveig Heide, Boris Keren, Sandra Chantot-Bastaraud, Jean-Pierre Siffroi
A congenital myasthenia was suspected in two unrelated children with very similar phenotypes including several episodes of severe dyspnea. Both children had a 10q11.2 deletion revealed by Single Nucleotide Polymorphisms array or by Next Generation Sequencing analysis. The deletion was inherited from the healthy mother in the first case. These deletions unmasked a recessive mutation at the same locus in both cases, but in two different genes: CHAT and SLC18A3.
November 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29073918/a-first-description-of-the-colombian-national-registry-for-rare-diseases
#10
Heidi Eliana Mateus, Ana María Pérez, Martha Lucía Mesa, Germán Escobar, Jubby Marcela Gálvez, José Ivo Montaño, Martha Lucía Ospina, Paul Laissue
OBJECTIVE: Orphan diseases must be considered a public health concern, underlying country-specific challenges for their accurate and opportune diagnosis, classification and management. Orphan disease registries have not yet been created in South America, a continent having a population of ~ 415 million inhabitants. In Colombia ~ 3 million of patients are affected by rare diseases. The aim of the present study was to establish the first Colombian national registry for rare diseases. The registry was created after the establishment of laws promoting the development of clinical guidelines for diagnosis, management, census and registry of patients suffering rare diseases...
October 26, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/28941526/pediatric-myasthenia-gravis
#11
Jason H Peragallo
Myasthenia gravis is a disorder of neuromuscular transmission that leads to fatigue of skeletal muscles and fluctuating weakness. Myasthenia that affects children can be classified into the following 3 forms: transient neonatal myasthenia, congenital myasthenic syndromes, and juvenile myasthenia gravis (JMG). JMG is an autoimmune disorder that has a tendency to affect the extraocular muscles, but can also affect all skeletal muscles leading to generalized weakness and fatigability. Respiratory muscles may be involved leading to respiratory failure requiring ventilator support...
May 2017: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28939973/sodium-channelopathies-of-skeletal-muscle
#12
Stephen C Cannon
The NaV1.4 sodium channel is highly expressed in skeletal muscle, where it carries almost all of the inward Na(+) current that generates the action potential, but is not present at significant levels in other tissues. Consequently, mutations of SCN4A encoding NaV1.4 produce pure skeletal muscle phenotypes that now include six allelic disorders: sodium channel myotonia, paramyotonia congenita, hyperkalemic periodic paralysis, hypokalemic periodic paralysis, congenital myasthenia, and congenital myopathy with hypotonia...
September 23, 2017: Handbook of Experimental Pharmacology
https://www.readbyqxmd.com/read/28733338/early-and-lethal-neurodegeneration-with-myasthenic-and-myopathic-features-a-new-alg14-cdg
#13
David C Schorling, Simone Rost, Dirk J Lefeber, Lauren Brady, Clemens R Müller, Rudolf Korinthenberg, Mark Tarnopolsky, Carsten G Bönnemann, Richard J Rodenburg, Marianna Bugiani, Maria Beytia, Marcus Krüger, Marjo van der Knaap, Jan Kirschner
OBJECTIVE: To describe the presentation and identify the cause of a new clinical phenotype, characterized by early severe neurodegeneration with myopathic and myasthenic features. METHODS: This case study of 5 patients from 3 families includes clinical phenotype, serial MRI, electrophysiologic testing, muscle biopsy, and full autopsy. Genetic workup included whole exome sequencing and segregation analysis of the likely causal mutation. RESULTS: All 5 patients showed severe muscular hypotonia, progressive cerebral atrophy, and therapy-refractory epilepsy...
August 15, 2017: Neurology
https://www.readbyqxmd.com/read/28726234/-current-status-of-congenital-myasthenic-syndromes
#14
REVIEW
M Bestue-Cardiel, D Natera-de Benito
Since Engel reported the first case of congenital myasthenia in 1977 and the first pathogenic gene was found in 1995, knowledge about congenital myasthenic syndromes has continued to grow. Over the years, the pathogenic basis, its clinical features, the phenotype-genotype correlations that have been established and its therapeutic management have all been described. In this group of diseases the safety margin of neuromuscular transmission is altered by different mechanisms: in the synthesis or storage of acetylcholine quanta in the synaptic vesicles, in the calcium-mediated release of acetylcholine in the nerve terminal or in the efficiency of the quantum released to generate a post-synaptic depolarisation...
August 16, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28495245/massive-parallel-sequencing-identifies-rapsn-and-pdha1-mutations-causing-fetal-akinesia-deformation-sequence
#15
Lore Winters, Evelien Van Hoof, Luc De Catte, Kris Van Den Bogaert, Thomy de Ravel, Liesbeth De Waele, Anniek Corveleyn, Jeroen Breckpot
INTRODUCTION: Fetal akinesia deformation sequence (FADS) or arthrogryposis multiplex congenita (AMC) is characterized by clinical ambiguity and genetic heterogeneity, hampering genetic diagnosis via traditional sequencing methods. Next generation sequencing (NGS) of all known disease-causing genes offers an elegant solution to identify the genetic etiology of AMC/FADS in a diagnostic setting. METHODS: An in-house developed disease-associated gene panel was conducted in two unrelated fetuses with FADS...
April 26, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28429039/-true-thymic-hyperplasia-differential-diagnosis-of-thymic-mass-lesions-in-neonates-and-children
#16
C-A Weis, B Märkl, T Schuster, K Vollert, P Ströbel, A Marx
Reactive and neoplastic thymic pathologies are the main considerations in the case of masses in the anterior and middle part of the mediastinum, while neurogenic tumors are predominant in the posterior mediastinum (which are not dealt with here). In neonates and infants, the commonest pathologies in the anterior mediastinum comprise germ cell tumors (mainly teratomas), congenital thymic cysts and true thymic hyperplasia (TTH). In toddlers, teratomas, yolk sac tumors and cysts predominate. In children over 5 years of age, lymphomas are the commonest mass lesions whereas thymomas and thymic carcinomas are rare...
July 2017: Der Pathologe
https://www.readbyqxmd.com/read/28369367/collagen-xiii-secures-pre-and-postsynaptic-integrity-of-the-neuromuscular-synapse
#17
Heli Härönen, Zarin Zainul, Hongmin Tu, Nikolay Naumenko, Raija Sormunen, Ilkka Miinalainen, Anastasia Shakirzyanova, Tuomo Oikarainen, Azat Abdullin, Paula Martin, Sabrina Santoleri, Jari Koistinaho, Israel Silman, Rashid Giniatullin, Michael A Fox, Anne Heikkinen, Taina Pihlajaniemi
Both transmembrane and extracellular cues, one of which is collagen XIII, regulate the formation and function of the neuromuscular synapse, and their absence results in myasthenia. We show that the phenotypical changes in collagen XIII knock-out mice are milder than symptoms in human patients, but the Col13a1-/- mice recapitulate major muscle findings of congenital myasthenic syndrome type 19 and serve as a disease model. In the lack of collagen XIII neuromuscular synapses do not reach full size, alignment, complexity and function resulting in reduced muscle strength...
June 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28337097/neuromuscular-disease-mimicking-myasthenia-gravis-in-a-nigerian-female-adolescent-could-this-be-nemaline-rod-disease
#18
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
#19
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
#20
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...
May 2017: Wiener Klinische Wochenschrift
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