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JOURNAL ARTICLE
Julian Theuriet, Marion Masingue, Anthony Behin, Ana Ferreiro, Guillaume Bassez, Pauline Jaubert, Oriana Tarabay, Frédéric Fer, Antoine Pegat, Françoise Bouhour, Juliette Svahn, Philippe Petiot, Laurentiu Jomir, Guy Chauplannaz, Catherine Cornut-Chauvinc, Véronique Manel, Emmanuelle Salort-Campana, Shahram Attarian, Etienne Fortanier, Annie Verschueren, Ludivine Kouton, Jean-Philippe Camdessanché, Céline Tard, Armelle Magot, Yann Péréon, Jean-Baptiste Noury, Marie-Christine Minot-Myhie, Maud Perie, Frederic Taithe, Yacine Farhat, Anne-Laure Millet, Pascal Cintas, Guilhem Solé, Marco Spinazzi, Florence Esselin, Dimitri Renard, Sabrina Sacconi, Andra Ezaru, Edoardo Malfatti, Martial Mallaret, Laurent Magy, Eva Diab, Philippe Merle, Maud Michaud, Maxime Fournier, Aleksandra Nadaj Pakleza, Jean-Baptiste Chanson, Claire Lefeuvre, Pascal Laforet, Pascale Richard, Damien Sternberg, Rocio-Nur Villar-Quiles, Tanya Stojkovic, Bruno Eymard
Congenital myasthenic syndromes (CMS) are clinically and genetically heterogeneous diseases caused by mutations affecting neuromuscular transmission. Even if the first symptoms mainly occur during childhood, adult neurologists must confront this challenging diagnosis and manage these patients throughout their adulthood. However, long-term follow-up data from large cohorts of CMS patients are lacking and the long-term prognosis of these patients is largely unknown. We report the clinical features, diagnostic difficulties, and long-term prognosis of a French nationwide cohort of 235 adult patients with genetically confirmed CMS followed in 23 specialized neuromuscular centres...
May 2, 2024: Brain
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JOURNAL ARTICLE
Marilyn Lu, Joan Reisch, Susan Iannaccone, Kaitlin Batley
BACKGROUND: Juvenile myasthenia gravis (JMG) is a rare autoimmune disease that causes fatigable muscle weakness in children aged <18 years. There is currently no curative treatment or internationally accepted standard of care for JMG. The objective is to investigate relationships between clinical presentation, antibody status, severity of disease onset, electrodiagnostic evaluation, and response to therapy in JMG. METHODS: This study was a retrospective chart review...
March 24, 2024: Pediatric Neurology
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EDITORIAL
Leighann Henehan, David Beeson, Jacqueline Palace
No abstract text is available yet for this article.
April 17, 2024: Practical Neurology
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JOURNAL ARTICLE
Oula Norman, Jarkko Koivunen, Riitta Kaarteenaho, Antti M Salo, Joni M Mäki, Johanna Myllyharju, Taina Pihlajaniemi, Anne Heikkinen
BACKGROUND: Collagen XIII is a transmembrane collagen associated with neuromuscular junction development, and in humans its deficiency results in congenital myasthenic syndrome type 19 (CMS19), which leads to breathing difficulties. CMS19 patients usually have restricted lung capacity and one patient developed chronic lung disease. In single-cell RNA sequencing studies, collagen XIII has been identified as a marker for pulmonary lipofibroblasts, which have been implicated in the resolution of pulmonary fibrosis...
December 12, 2023: BMJ Open Respiratory Research
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JOURNAL ARTICLE
Aakash Mahesan, Gautam Kamila, Richa Tiwari, Sumanta Das, Mehar C Sharma, Prashant Jauhari, Biswaroop Chakrabarty, Sheffali Gulati
No abstract text is available yet for this article.
January 1, 2024: Neurology India
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JOURNAL ARTICLE
Juan Pablo Munafó, Brunella Biscussi, Diego Obiol, Marcelo Costabel, Cecilia Bouzat, Ana Paula Murray, Silvia Antollini
Cholinergic deficit is a characteristic factor of several pathologies, such as myasthenia gravis, some types of congenital myasthenic syndromes, and Alzheimer's Disease. Two molecular targets for its treatment are acetylcholinesterase (AChE) and nicotinic acetylcholine receptor (nAChR). In previous studies, we found that caffeine behaves as a partial nAChR agonist and confirmed that it inhibits AChE. Here, we present new bifunctional caffeine derivatives consisting of a theophylline ring connected to amino groups by different linkers...
March 6, 2024: ACS Chemical Neuroscience
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Judith Cossins, Imre Kozma, Claudia Canzonetta, Al Hawkins, David Beeson, Patricio Sepulveda, Yin Dong
Congenital myasthenic syndromes (CMS) are a group of inherited disorders characterised by defective neuromuscular transmission and fatigable muscle weakness. Mutations in DOK7 , a gene encoding a post-synaptic protein crucial in the formation and stabilisation of the neuromuscular junction (NMJ), rank among the leading three prevalent causes of CMS in diverse populations globally. The majority of DOK7 CMS patients experience varying degrees of disability despite receiving optimised treatment, necessitating the development of improved therapeutic approaches...
February 12, 2024: bioRxiv
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JOURNAL ARTICLE
Erika K Williams, Cristina Shea, Paloma Gonzalez-Perez
OBJECTIVES: The objective of this study was to expand the phenotypic spectrum of glutamine-fructose-6-phosphate transaminase 1 ( GFPT1 )-related congenital myasthenia syndrome (CMS). METHODS: A 61-year-old man with agenesis of the left pectoralis major muscle presented with progressive muscle weakness for a decade that transiently improved after exertion. RESULTS: His examination revealed proximal and distal muscle weakness in upper extremities and proximal muscle weakness in lower extremities...
December 2023: Neurology. Genetics
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JOURNAL ARTICLE
Sujatha Manjunathan, Pradeep Kumar Gunasekaran, Veena Laxmi, Ashna Kumar, Lokesh Saini
No abstract text is available yet for this article.
April 2024: Neuropediatrics
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REVIEW
João Aris Kouyoumdjian, Eduardo de Paula Estephan
The nerve terminal and muscle membrane compose the neuromuscular junction. After opening the voltage-gated calcium channels, action potentials from the motor axons provoke a cascade for the acetylcholine release from synaptic vesicles to the synaptic cleft, where it binds to its receptor at the muscle membrane for depolarization. Low amplitude compound muscle action potential typically presents in presynaptic disorders, increasing by more than 100% after a 10-second effort in the Lambert-Eaton myasthenic syndrome and less in botulism...
December 2023: Arquivos de Neuro-psiquiatria
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JOURNAL ARTICLE
Monika Kumari, Nadira Khatoon, Rachita Sharma, Sushanth Adusumilli, Anthony Auerbach, Hemant K Kashyap, Tapan K Nayak
Neuromuscular acetylcholine receptors (AChRs) are hetero-pentameric, ligand-gated ion channels. The binding of the neurotransmitter acetylcholine (ACh) to two target sites promotes a global conformational change of the receptor that opens the channel and allows ion conduction through the channel pore. Here, by measuring free-energy changes from single-channel current recordings and using molecular dynamics simulations, we elucidate how a constricted hydrophobic region acts as a "gate" to regulate the channel opening in the pore of AChRs...
February 5, 2024: Journal of General Physiology
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REVIEW
Heinz Wiendl, Angela Abicht, Andrew Chan, Adela Della Marina, Tim Hagenacker, Khosro Hekmat, Sarah Hoffmann, Hans-Stefan Hoffmann, Sebastian Jander, Christian Keller, Alexander Marx, Arthur Melms, Nico Melzer, Wolfgang Müller-Felber, Marc Pawlitzki, Jens-Carsten Rückert, Christiane Schneider-Gold, Benedikt Schoser, Bettina Schreiner, Michael Schroeter, Bettina Schubert, Jörn-Peter Sieb, Fritz Zimprich, Andreas Meisel
Myasthenia gravis (MG), Lambert-Eaton myasthenic syndrome (LEMS), and congenital myasthenic syndromes (CMS) represent an etiologically heterogeneous group of (very) rare chronic diseases. MG and LEMS have an autoimmune-mediated etiology, while CMS are genetic disorders. A (strain dependent) muscle weakness due to neuromuscular transmission disorder is a common feature. Generalized MG requires increasingly differentiated therapeutic strategies that consider the enormous therapeutic developments of recent years...
2023: Therapeutic Advances in Neurological Disorders
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REVIEW
Masatoshi Hayashi
The pathophysiology of myasthenia gravis (MG) has been largely elucidated over the past half century, and treatment methods have advanced. However, the number of cases of childhood-onset MG is smaller than that of adult MG, and the treatment of childhood-onset MG has continued to be based on research in the adult field. Research on pathophysiology and treatment methods that account for the unique growth and development of children is now desired. According to an epidemiological survey conducted by the Ministry of Health, Labour and Welfare of Japan, the number of patients with MG by age of onset in Japan is high in early childhood...
December 2, 2023: Pathophysiology: the Official Journal of the International Society for Pathophysiology
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Khairunnisa Mukhtiar, Mohammad Raza, Isbaah Tejani, Farhan Ali, Shahnaz Ibrahim
Myasthenia in the infancy and toddler age group is rare and often presents a challenge to treating pediatric neurologists. Our report addresses the challenges encountered when distinguishing myasthenia in infants and toddlers from similar illnesses, as well as the differentiation between congenital myasthenia, transient myasthenia, and autoimmune myasthenia. We present four cases of myasthenia between the ages of 10 and 30 months. The diagnosis and management of these cases were challenging due to the variability in clinical presentation...
2023: SAGE Open Medical Case Reports
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JOURNAL ARTICLE
Antonia McLean, Ian Wilson
Slowly progressive neuromuscular symptoms often have a genetic basis. We present the case of a woman in her 40s with gradually progressive symmetrical weakness and respiratory muscle involvement. Extensive investigation found no specific cause. After a novel neuromuscular gene panel became available, we identified a mutation in the MUSK gene (muscle-specific kinase), confirming a diagnosis of congenital myasthenic syndrome. This group of rare disorders are caused by mutations in genes encoding the neuromuscular junction...
November 20, 2023: Practical Neurology
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JOURNAL ARTICLE
Laura O'Connor, Clas Malmeström, Rui Da Silva Rodrigues, Susanna Brauner, Anna-Karin Wikström, Anna Rostedt Punga
BACKGROUND AND PURPOSE: Few large-scale studies examine whether maternal myasthenia gravis (MG) is a risk factor for complications during pregnancy and childbirth. This study evaluated whether maternal MG is associated with an increased risk of adverse pregnancy, delivery, and neonatal outcomes. METHODS: We conducted a nationwide Swedish register-based cohort study of women who gave birth to singleton infants (≥22 gestational weeks) during 1987-2019. Exposed women were diagnosed with MG before or during the index pregnancy (N = 443)...
October 16, 2023: European Journal of Neurology
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Yatao Yin, Jing Cao, Yuanteng Fan, Yan Xu
Congenital myasthenia syndromes (CMS) are a heterogeneous group of hereditary disorders of the neuromuscular junction. The symptoms include fatigue, muscle weakness, ptosis, mastication or swallowing problem, respiratory distress. We present a 42-year-old male patient who was admitted with complaints of paroxysmal limb weakness for 25 years and got repeated apnea crisis due to using AchE inhibitors. We considered this patient to be COLQ -related CMS because of two types characteristics. One is the symptom will deteriorate or non-responsive after giving AchE inhibitors and the other is repeated compound action potentials may appear after one current stimulation...
September 2023: Heliyon
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REVIEW
Geetanjali Rathore, Peter B Kang
The diagnostic and referral workflow for children with neuromuscular disorders is evolving, particularly as newborn screening programs are expanding in tandem with novel therapeutic developments. However, for the children who present with symptoms and signs of potential neuromuscular disorders, anatomic localization, guided initially by careful history and physical examination, continues to be the cardinal initial step in the diagnostic evaluation. It is important to consider whether the localization is more likely to be in the lower motor neuron, peripheral nerve, neuromuscular junction, or muscle...
December 2023: Pediatric Neurology
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REVIEW
Mohammad N Almohammal
Neonates can have ion channel abnormalities known as channelopathies, which can impact any organ system. These abnormalities cause seizures, which can result in developmental delays and lead to early death. For a child's long-term neurodevelopment, early identification as a channelopathy is essential to avoid any brain damage. Therefore, this review aims to focus on early diagnostic criteria. Since it might be difficult for doctors to interpret the presenting symptoms of channelopathies, a thorough diagnostic examination that follows a methodical step-by-step procedure is essential...
August 2023: Curēus
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JOURNAL ARTICLE
Özlem Özsoy, Tayfun Cinleti, Çağatay Günay, Gamze Sarıkaya Uzan, Özlem Giray Bozkaya, Ahmet Okay Çağlayan, Semra Hız Kurul, Uluç Yiş
BACKGROUND: Congenital myasthenic syndrome is a disease that occurs due to several types such as mutations in different pre-synaptic, synaptic, post-synaptic proteins and, glycosylation defects associated with congenital myopathy. Juvenile myasthenia gravis is an autoimmune condition usually caused by antibodies targeting the acetylcholine receptor. AIMS: Our objective is to conduct an analysis on the subgroup traits exhibited by patients who have been diagnosed with congenital myasthenic syndrome and juvenile myasthenia gravis, with a focus on their long-term monitoring and management...
September 1, 2023: Acta Neurologica Belgica
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