keyword
MENU ▼
Read by QxMD icon Read
search

myasthenic syndrome

keyword
https://www.readbyqxmd.com/read/28755803/sleep-in-infants-with-congenital-myasthenic-syndromes
#1
Serena Caggiano, Sonia Khirani, Elisabetta Verrillo, Christine Barnerias, Alessandro Amaddeo, Cyril Gitiaux, Briac Thierry, Isabelle Desguerre, Renato Cutrera, Brigitte Fauroux
BACKGROUND AND OBJECTIVES: Infants with congenital myasthenic syndrome (CMS) are at risk of brief resolved unexplained event (BRUE) and sleep-disordered breathing. The aim of the study was to explore sleep in infants with CMS with a particular focus on heart rate (HR) variability. METHODS: Overnight polygraphy was performed and HR variations associated with respiratory events were analysed. Bradycardia and tachycardia were defined as a variation of HR of ±10 bpm from baseline and analysed as events/hour...
July 21, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28733338/early-and-lethal-neurodegeneration-with-myasthenic-and-myopathic-features-a-new-alg14-cdg
#2
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...
July 21, 2017: Neurology
https://www.readbyqxmd.com/read/28726234/-current-status-of-congenital-myasthenic-syndromes
#3
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/28712002/mutations-in-gfpt1-related-congenital-myasthenic-syndromes-are-associated-with-synaptic-morphological-defects-and-underlie-a-tubular-aggregate-myopathy-with-synaptopathy
#4
Stéphanie Bauché, Geoffroy Vellieux, Damien Sternberg, Marie-Joséphine Fontenille, Elodie De Bruyckere, Claire-Sophie Davoine, Guy Brochier, Julien Messéant, Lucie Wolf, Michel Fardeau, Emmanuelle Lacène, Norma Romero, Jeanine Koenig, Emmanuel Fournier, Daniel Hantaï, Nathalie Streichenberger, Veronique Manel, Arnaud Lacour, Aleksandra Nadaj-Pakleza, Sylvie Sukno, Françoise Bouhour, Pascal Laforêt, Bertrand Fontaine, Laure Strochlic, Bruno Eymard, Frédéric Chevessier, Tanya Stojkovic, Sophie Nicole
Mutations in GFPT1 (glutamine-fructose-6-phosphate transaminase 1), a gene encoding an enzyme involved in glycosylation of ubiquitous proteins, cause a limb-girdle congenital myasthenic syndrome (LG-CMS) with tubular aggregates (TAs) characterized predominantly by affection of the proximal skeletal muscles and presence of highly organized and remodeled sarcoplasmic tubules in patients' muscle biopsies. We report here the first long-term clinical follow-up of 11 French individuals suffering from LG-CMS with TAs due to GFPT1 mutations, of which nine are new...
August 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28695360/erratum-to-lambert-eaton-myasthenic-syndrome-lems-a-rare-autoimmune-presynaptic-disorder-often-associated-with-cancer
#5
Benedikt Schoser, Bruno Eymard, Joe Datt, Renato Mantegazza
No abstract text is available yet for this article.
July 10, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28690392/congenital-myasthenic-syndrome-phenotypic-variability-in-patients-harbouring-p-t159p-mutation-in-chrne-gene
#6
Anna Ardissone, Isabella Moroni, Pia Bernasconi, Raffaella Brugnoni
Congenital myasthenic syndromes (CMS) are rare and heterogeneous genetic diseases characterized by compromised neuromuscular transmission and clinical features of fatigable weakness; age at onset, presenting symptoms, distribution of weakness, and response to treatment differ depending on the underlying molecular defect. Mutations in one of the multiple genes, encoding proteins expressed at the neuromuscular junction, are currently known to be associated with subtypes of CMS. The most common CMS syndrome identified is associated with mutation in the CHRNE gene, causing principally muscle nicotinic acetylcholine receptor deficiency, that results in reduced receptor density on the postsynaptic membrane...
March 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/28680320/lambert-eaton-myasthenic-syndrome-with-a-twenty-three-year-delay-in-diagnosis
#7
Elif Gökçal, Azize Esra Gürsoy, Talip Asil, Mustafa Ertaş
No abstract text is available yet for this article.
June 2017: Noro Psikiyatri Arsivi
https://www.readbyqxmd.com/read/28662078/dpagt1-cdg-functional-analysis-of-disease-causing-pathogenic-mutations-and-role-of-endoplasmic-reticulum-stress
#8
Patricia Yuste-Checa, Ana I Vega, Cristina Martín-Higueras, Celia Medrano, Alejandra Gámez, Lourdes R Desviat, Magdalena Ugarte, Celia Pérez-Cerdá, Belén Pérez
Pathogenic mutations in DPAGT1 are manifested as two possible phenotypes: congenital disorder of glycosylation DPAGT1-CDG (also known as CDG-Ij), and limb-girdle congenital myasthenic syndrome (CMS) with tubular aggregates. UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosamine phosphotransferase (GPT), the protein encoded by DPAGT1, is an endoplasmic reticulum (ER)-resident protein involved in an initial step in the N-glycosylation pathway. The aim of the present study was to examine the effect of six variants in DPAGT1 detected in patients with DPAGT1-CDG, and the role of endoplasmic reticulum stress, as part of the search for therapeutic strategies to use against DPAGT1-CDG...
2017: PloS One
https://www.readbyqxmd.com/read/28638036/-seronegative-nonparaneoplastic-lambert-eaton-myasthenic-syndrome
#9
A G Sanadze, D V Sidnev, D A Tumurov
The authors studied two patients with Lambert-Eaton myasthenic syndrome (LEMS) in whom the repeated examination did not find specific of LEMS P/Q type voltage-gates calcium channel autoantibodies. The results of clinical testing and electrophysiological examination showed the typical character of movement disorders with the absence of tendon reflexes and signs of disautonomia as well as a decrease in M-response amplitude and phenomena of decrement with low frequency- and increment with high frequency stimulation...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/28629678/history-of-electromyography-and-nerve-conduction-studies-a-tribute-to-the-founding-fathers
#10
REVIEW
Mohamed Kazamel, Paula Province Warren
The early development of nerve conduction studies (NCS) and electromyography (EMG) was linked to the discovery of electricity. This relationship had been concluded by observing the effect of applying electricity to the body of an animal and discovering that nerves and muscles themselves could produce electricity. We attempt to review the historical evolution of NCS and EMG over the last three centuries by reviewing the landmark publications of Galvani, Adrian, Denny-Brown, Larrabee, and Lambert. In 1771, Galvani showed that electrical stimulation of animal muscle tissue produced contraction and, thereby, the concept of animal electricity was born...
September 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28608304/lambert-eaton-myasthenic-syndrome-lems-a-rare-autoimmune-presynaptic-disorder-often-associated-with-cancer
#11
REVIEW
Benedikt Schoser, Bruno Eymard, Joe Datt, Renato Mantegazza
Lambert-Eaton myasthenic syndrome (LEMS) is a rare autoimmune neuromuscular junction disorder that is related to the loss of functional P/Q-type voltage-gated calcium channels (VGCCs) on presynaptic nerve terminals. Up to 60% of cases occur as a paraneoplastic disorder (SCLC-LEMS), most commonly in association with small cell lung cancer. The remaining cases have an idiopathic non-tumor etiology but are associated with underlying autoimmune disease (NT-LEMS). Patients with LEMS invariably experience progressive proximal muscle weakness, often accompanied by general fatigue and autonomic symptoms...
June 12, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28562525/ophthalmoplegia-associated-with-lung-adenocarcinoma-in-a-patient-with-the-lambert-eaton-myasthenic-syndrome-a-case-report
#12
Yufeng Tang, Ke Wang, Zhonglun Chen, Muke Zhou, Jingfeng Duan, Tao Liu, Dong Zhou
RATIONALE: The Lambert-Eaton myasthenic syndrome (LEMS) is a neuromuscular disease; its unique symptoms of LEMS include dry mouth with a metallic taste, constipation, and erectile dysfunction. As it is quite rare, isolated ocular muscle impairment associated with LEMS east to ignore. PATIENT CONCERNS: A 65-year-old man presented with alternating ptosis and diplopia. Isolated ocular muscle impairment had lasted for 6 years, and the patient was initially diagnosed with ocular myasthenia gravis (MG)...
June 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28544784/presynaptic-congenital-myasthenic-syndrome-with-a-homozygous-sequence-variant-in-lama5-combines-myopia-facial-tics-and-failure-of-neuromuscular-transmission
#13
Ricardo A Maselli, Juan Arredondo, Jessica Vázquez, Jessica X Chong, Michael J Bamshad, Deborah A Nickerson, Marian Lara, Fiona Ng, Victoria L Lo, Peter Pytel, Craig M McDonald
Defects in genes encoding the isoforms of the laminin alpha subunit have been linked to various phenotypic manifestations, including brain malformations, muscular dystrophy, ocular defects, cardiomyopathy, and skin abnormalities. We report here a severe defect of neuromuscular transmission in a consanguineous patient with a homozygous variant in the laminin alpha-5 subunit gene (LAMA5). The variant c.8046C>T (p.Arg2659Trp) is rare and has a predicted deleterious effect. The affected individual, who also carries a rare homozygous sequence variant in LAMA1, had muscle weakness, myopia, and facial tics...
August 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28508085/intragenic-dok7-deletion-detected-by-whole-genome-sequencing-in-congenital-myasthenic-syndromes
#14
Yoshiteru Azuma, Ana Töpf, Teresinha Evangelista, Paulo José Lorenzoni, Andreas Roos, Pedro Viana, Hidehito Inagaki, Hiroki Kurahashi, Hanns Lochmüller
OBJECTIVE: To identify the genetic cause in a patient affected by ptosis and exercise-induced muscle weakness and diagnosed with congenital myasthenic syndromes (CMS) using whole-genome sequencing (WGS). METHODS: Candidate gene screening and WGS analysis were performed in the case. Allele-specific PCR was subsequently performed to confirm the copy number variation (CNV) that was suspected from the WGS results. RESULTS: In addition to the previously reported frameshift mutation c...
June 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28505670/the-increasing-genetic-and-phenotypical-diversity-of-congenital-myasthenic-syndromes
#15
Grace McMacken, Angela Abicht, Teresinha Evangelista, Sally Spendiff, Hanns Lochmüller
No abstract text is available yet for this article.
August 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28478914/late-onset-limb-girdle-muscular-dystrophy-caused-by-gmppb-mutations
#16
Hasan Balcin, Johanna Palmio, Sini Penttilä, Inger Nennesmo, Mikaela Lindfors, Göran Solders, Bjarne Udd
Mutations in GMPPB gene have been reported in patients with early-onset disease ranging from severe congenital muscular dystrophies to limb-girdle muscular dystrophy (LGMD) with mental retardation. More recently mutations in GMPPB have been identified with congenital myasthenic syndromes as well as milder phenotypes. We report two unrelated cases with LGMD that underwent clinical, histopathological and genetic studies. In both cases, we found identical compound heterozygous GMPPB mutations c.79G>C p.D27H and c...
July 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28464723/genetic-landscape-of-congenital-myasthenic-syndromes-from-turkey-novel-mutations-and-clinical-insights
#17
Uluç Yiş, Kerstin Becker, Semra Hız Kurul, Gökhan Uyanik, Erhan Bayram, Göknur Haliloğlu, Ayşe İpek Polat, Müge Ayanoğlu, Derya Okur, Ayşe Fahriye Tosun, Gül Serdaroğlu, Sanem Yilmaz, Haluk Topaloğlu, Banu Anlar, Sebahattin Cirak, Andrew G Engel
Congenital myasthenic syndromes are clinically and genetically heterogeneous disorders of neuromuscular transmission. Most are treatable, but certain subtypes worsen with cholinesterase inhibitors. This underlines the importance of genetic diagnosis. Here, the authors report on cases with genetically proven congenital myasthenic syndromes from Turkey. The authors retrospectively reviewed their experience of all patients with congenital myasthenic syndromes, referred over a 5-year period (2011-2016) to the Child Neurology Department of Dokuz Eylül University, Izmir, Turkey...
July 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28433477/novel-mutations-in-the-c-terminal-region-of-gmppb-causing-limb-girdle-muscular-dystrophy-overlapping-with-congenital-myasthenic-syndrome
#18
Sushan Luo, Shuang Cai, Susan Maxwell, Dongyue Yue, Wenhua Zhu, Kai Qiao, Zhen Zhu, Lei Zhou, Jianying Xi, Jiahong Lu, David Beeson, Chongbo Zhao
Mutations in the GMPPB gene may underlie both limb girdle muscular dystrophy (LGMD) and congenital myasthenic syndrome (CMS). Forty-one cases have been reported to date and hotspot mutations are emerging in the Caucasian population. Clinical and pathological features of 5 patients with compound heterozygous GMPPB mutations were collected and retrospectively reviewed. In vitro functional analysis was performed to investigate the pathogeneity of GMPPB variants. The patients presented with proximal limb weakness in their first to second decades...
March 10, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28374700/-decrement-pattern-of-m-response-amplitude-in-the-low-frequency-repetitive-nerve-stimulation-in-the-muscles-of-patients-with-myasthenia-gravis-and-lambert-eaton-myasthenic-syndrome
#19
COMPARATIVE STUDY
D A Tumurov, A G Sanadze
AIM: To investigate the pattern of decrement in the muscles of patients with myasthenia gravis (MG) and Lambert-Eaton myasthenic syndrome (LEMS). MATERIAL AND METHODS: Twenty-seven patients with MG and 39 patients with LEMS were studied using low frequency repetitive nerve stimulation (3/ sec). RESULTS AND CONCLUSION: The decrease of safety factor of neuromuscular transmission was equal in both groups. At the same time, a significant difference in the decrease of pattern of the amplitude compound of muscle action potential (CMAP) was found...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/28369367/collagen-xiii-secures-pre-and-postsynaptic-integrity-of-the-neuromuscular-synapse
#20
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
keyword
keyword
16306
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"