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neuromuscular disorder

Njinkeng J Nkemngu, Joel N Tochie
Neostigmine is the anticholinesterase drug most commonly used to reverse blockade or speed up recovery from neuromuscular blockade from nondepolarizing neuromuscular blocking drugs. Because of its cardiac muscarinic effects, prior or simultaneous administration of glycopyrrolate or atropine is usually recommended. There have been a few case reports of bradycardia, atrio-ventricular (AV) block, and cardiac arrest following neostigmine/glycopyrrolate administration to reverse neuromuscular block affecting several patients...
2018: Anesthesia Progress
Nens van Alfen, Jean K Mah
Neuromuscular ultrasound is a rapidly evolving technique for diagnosing, monitoring and facilitating treatment of patients with muscle and nerve disorders. It is a portable point-of-care technology that is non-invasive, painless and without ionizing radiation. Ultrasound can visualize muscle texture alterations indicating dystrophy or denervation, changes in size and anatomic continuity of nerve fascicles, and its dynamic imaging capabilities allow capturing of contractions and fasciculations. Ultrasound can also provide real-time guidance for needle placement, and can sometimes make a diagnosis when electromyography is not tolerated or not informative anymore...
September 2018: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
Roberta Schellino, Marina Boido, Tiziana Borsello, Alessandro Vercelli
Spinal muscular atrophy (SMA) is a severe neurodegenerative disorder that occurs in early childhood. The disease is caused by the deletion/mutation of the survival motor neuron 1 (SMN1) gene resulting in progressive skeletal muscle atrophy and paralysis, due to the degeneration of spinal motor neurons (MNs). Currently, the cellular and molecular mechanisms underlying MN death are only partly known, although recently it has been shown that the c-Jun NH2 -terminal kinase (JNK)-signaling pathway might be involved in the SMA pathogenesis...
2018: Frontiers in Molecular Neuroscience
Maria Jędrzejowska, Emilia Dębek, Bartłomiej Kowalczyk, Paulina Halat, Anna Kostera-Pruszczyk, Elżbieta Ciara, Aleksandra Jezela-Stanek, Małgorzata Rydzanicz, Piotr Gasperowicz, Monika Gos
INTRODUCTION: Mutations in the TRPV4 gene are associated with neuromuscular disorders and skeletal dysplasias, which present a phenotypic overlap. METHODS: Next generation sequencing and Sanger sequencing were used to analyze the TRPV4 gene. RESULTS: We present two Polish families with TRPV4-related disorder harboring the same p.Arg269His mutation. The disease phenotypic expression was extremely variable (from mild scapular winging to severe hypotonia, global weakness, inability to walk unaided, congenital contractures, scoliosis and respiratory insufficiency), but did not suggest anticipation...
September 19, 2018: Muscle & Nerve
Kristin J Krosschell, Michael Bosch, Leslie Nelson, Tina Duong, Linda P Lowes, Lindsay N Alfano, Danielle Benjamin, Terri B Carry, Ginger Devine, Carolyn Kelley, Rebecca Gadekan, Elizabeth C Malkus, Amy Pasternak, Stephanie Provance-Orr, Lynne Roemeiser-Logan, Alina Nicorici, Donata Trussell, Sally Dunaway Young, Jennifer R Fetterman, Jacqueline Montes, Penny J Powers, Rebecca Quinones, Janet Quigley, Christopher S Coffey, Jon W Yankey, Amy Bartlett, John T Kissel, Stephen J Kolb
BackgroundThe NeuroNEXT SMA Infant Biomarker Study, a two year, longitudinal, multi-center study of infants with SMA type 1 and healthy infants, presented a unique opportunity to assess multi-site rater reliability on three infant motor function tests (MFTs) commonly used to assess infants with SMA type 1.ObjectiveTo determine the effect of prospective MFT rater training and the effect of rater experience on inter-rater and intra-rater reliability for the Test of Infant Motor Performance Screening Items (TIMPSI), the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) and the Alberta Infant Motor Scale (AIMS)...
September 8, 2018: Journal of Neuromuscular Diseases
Juan P Cata, Javier D Lasala, Wendell Williams, Gabriel E Mena
Myasthenia gravis (MG) is a rare neuromuscular disorder characterized by skeletal muscle weakness. Patients with MG who have thymoma and thymic hyperplasia have indications for thymectomy. The perioperative care of patients with MG scheduled for thymus resection should be focused on optimizing their neuromuscular function, identifying factors related to postoperative mechanical ventilation, and avoiding of triggers associated with myasthenic or cholinergic crisis. Minimally invasive surgical techniques, use of regional analgesia, and avoidance or judicious administration of neuromuscular blocking drugs (NMBs) is recommended during the perioperative period...
July 29, 2018: Journal of Cardiothoracic and Vascular Anesthesia
Sonia Messina, Gian Luca Vita
INTRODUCTION: Duchenne muscular dystrophy (DMD) is a devastating, progressive neuromuscular disorder for which there is no cure. As the dystrophin gene is located on the X chromosome, DMD occurs predominately in males. DMD is caused by a lack of functional dystrophin protein resulting from mutations in the 2.2-Mb DMD gene, whichdisrupts the reading frame. Care considerations for DMD advocate a coordinated, multidisciplinary approach to the management of DMD in order to optimize management of the primary manifestations of DMD as well as any secondary complications that may arise...
September 14, 2018: Neurological Sciences
Adrien Moreau, Pascal Gosselin-Badaroudine, Aurélie Mercier, Bettina Burger, Dagmar I Keller, Mohamed Chahine
Dilated cardiomyopathy (DCM) is a structural heart disease that causes dilatation of cardiac chambers and impairs cardiac contractility. The SCN5A gene encodes Nav 1.5, the predominant cardiac sodium channel alpha subunit. SCN5A mutations have been identified in patients with arrhythmic disorders associated with DCM. The characterization of Nav 1.5 mutations located in the voltage sensor domain (VSD) and associated with DCM revealed divergent biophysical defects that do not fully explain the pathologies observed in these patients...
September 14, 2018: Scientific Reports
Philip B Adebayo, Funmilola T Taiwo, Mayowa O Owolabi
Objective: This study aims to assess the frequency and indication for electrodiagnostic referrals as well as to summarize the findings from the procedure at a neurorehabilitation center in Ibadan, Nigeria. Methods: This is a retrospective cross-sectional study. Data from referrals to Blossom Medical Centre/World Federation for Neurorehabilitation (BMC/WFNR) center, Ibadan, Nigeria, from April 2014 to December 2016 were collated and analyzed. Results: Sixty referrals were received during the period of evaluation...
2018: Clinical Neurophysiology Practice
Mohammad Saeidi, Rosa Alikhani, Ahmad Hormati, Seyed Mehdi Sabouri, Reza Aminnejad
Masseter muscle rigidity is a known complication of drugs such as succinylcholine and volatile agents. However, muscle rigidity is an uncommon complication of propofol. We report the case of a 56-year-old ASA-PS class I woman refereeing for colonoscopy due to chronic constipation under deep intravenous sedation. She suffered masseter spasm after the injection of propofol. Masseter spasm should not be considered limited to special drug groups. In any case of difficult mouth opening, masseter spasm should be kept in mind and deepening of anesthesia or complete blockade of neuromuscular junction should be considered by the use of non-depolarizing muscle relaxants...
June 2018: Anesthesiology and Pain Medicine
Shuang Chen, Meng-Bei Xu, Xiao-Li Zhou, Pei-Qing Rong, Ting-Yu Jin, Guo-Qing Zheng
Myasthenia gravis (MG) is an acquired autoimmune disease with the disorder of the neuromuscular junction transmission caused by autoantibodies. Currently, various Chinese herbal medicines (CHMs) are widely used for MG. This meta-analysis was conducted to assess the effectiveness and safety of CHMs for MG and its possible mechanisms. Fourteen studies with 1039 individuals were identified by searching seven databases from inception to March 2017. The methodological quality was assessed by using 7-item criteria from the Cochrane's Collaboration tool, and which assessed ≥4 "yes" in the domains were selected for detailed assessment and meta-analysis...
2018: Frontiers in Pharmacology
J Matthew Kynes, Martin Blakely, Kevin Furman, William B Burnette, Katharina B Modes
Children with neuromuscular diseases present unique challenges to providing safe and appropriate perioperative care. Given the spectrum of disease etiologies and manifestations, this is a population that often requires specialized multidisciplinary care from pediatricians, geneticists, neurologists, dieticians, and pulmonologists which must also be coordinated with surgeons and anesthesiologists when these patients present for surgery. Several of these diseases also have specific pharmacologic implications for anesthesia, most notably mitochondrial disease and muscular dystrophies, which put them at additional risk during the perioperative period particularly in patients presenting without a formal diagnosis...
September 12, 2018: Children
Madhu Nagappa, Parayil Sankaran Bindu, Sanjib Sinha, Pavagada S Mathuranath, Arun B Taly
OBJECTIVE: To share the experience of next-generation sequencing (NGS) in delineating molecular basis of neuro-genetic disorders in adults of Indian origin. PATIENTS AND METHODS: Adults (aged ≥18 years) evaluated in a single neurology unit at a tertiary-care teaching hospital between August 2014 and September 2016, underwent NGS for (i) sporadic occurrence of neurological disorder where an extensive search did not reveal an acquired cause or (ii) familial or sporadic, uncommon, seemingly genetic disorder where single monogenic cause could not be ascertained based on phenotype...
September 7, 2018: Clinical Neurology and Neurosurgery
Rahul S Nanchal, Jonathon D Truwit
Acute respiratory distress syndrome (ARDS) is a clinically and biologically heterogeneous disorder associated with many disease processes that injure the lung, culminating in increased non-hydrostatic extravascular lung water, reduced compliance, and severe hypoxemia. Despite enhanced understanding of molecular mechanisms, advances in ventilatory strategies, and general care of the critically ill patient, mortality remains unacceptably high. The Berlin definition of ARDS has now replaced the American-European Consensus Conference definition...
2018: F1000Research
Muniba Fayyaz, Rollin J Hawley
Needle electromyography is a common procedure used by physicians to detect an underlying neuromuscular disorder. It is performed by inserting a needle electrode in different locations of the muscles and measures the muscle reaction or electrical activity in response to a nerve's stimulation of the muscle on an oscilloscope. The procedure is usually safe, however, in rare cases, the insertion of the needle in the pleura or lung can cause a pneumothorax, which can be life-threatening. Here, we have reported a case in which a puncture in the right cervical paraspinal muscle during a needle electromyography procedure caused a right-sided pneumothorax in a 49-year-old female patient who was further treated in the hospital until the pneumothorax resolved...
July 5, 2018: Curēus
Wooshik Choi, Junghun Lee, Jaeman Lee, Kyeong Ryang Ko, Sunyoung Kim
Hepatocyte growth factor (HGF) has been well characterized for its roles in the migration of muscle progenitors during embryogenesis and the differentiation of muscle stem cells, but its function in adult neurogenic muscle atrophic conditions is poorly understood. Here we investigated whether HGF/c-met signaling has any effects on muscle-atrophic conditions. It was found that HGF expression was upregulated in skeletal muscle tissue following surgical denervation and in hSOD1-G93A transgenic mice showing severe muscle loss...
September 7, 2018: Molecular Therapy. Nucleic Acids
Ilke Kupeli, Emine Tepe, Ufuk Kuyrukluyıldız
Rett syndrome (RS) is a neurodevelopmental disorder characterized by loss of cognitive, motor, and social skills, epilepsy, autistic behavior, abnormal airway patterns, gastroesophageal reflux, nutritional problems, and severe scoliosis. Although girls with RS show normal or near-normal growth until 6-8 months, they lose their skills after that. The anesthetic management of these patients requires care because of all these clinical features. Especially in the postoperative period, prolonged apnea is common and extubation is delayed...
August 2018: Journal of Dental Anesthesia and Pain Medicine
Libby Wood, Guillaume Bassez, Corinne Bleyenheuft, Craig Campbell, Louise Cossette, Aura Cecilia Jimenez-Moreno, Yi Dai, Hugh Dawkins, Jorge Alberto Diaz Manera, Celine Dogan, Rasha El Sherif, Barbara Fossati, Caroline Graham, James Hilbert, Kristinia Kastreva, En Kimura, Lawrence Korngut, Anna Kostera-Pruszczyk, Christopher Lindberg, Bjorn Lindvall, Elizabeth Luebbe, Anna Lusakowska, Radim Mazanec, Giovani Meola, Liannna Orlando, Masanori P Takahashi, Stojan Peric, Jack Puymirat, Vidosava Rakocevic-Stojanovic, Miriam Rodrigues, Richard Roxburgh, Benedikt Schoser, Sonia Segovia, Andriy Shatillo, Simone Thiele, Ivailo Tournev, Baziel van Engelen, Stanislav Vohanka, Hanns Lochmüller
BACKGROUND: Myotonic Dystrophy is the most common form of muscular dystrophy in adults, affecting an estimated 10 per 100,000 people. It is a multisystemic disorder affecting multiple generations with increasing severity. There are currently no licenced therapies to reverse, slow down or cure its symptoms. In 2009 TREAT-NMD (a global alliance with the mission of improving trial readiness for neuromuscular diseases) and the Marigold Foundation held a workshop of key opinion leaders to agree a minimal dataset for patient registries in myotonic dystrophy...
September 5, 2018: Orphanet Journal of Rare Diseases
Olivier Audet, Hung Tien Bui, Maxime Allisse, Alain-Steve Comtois, Mario Leone
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neuromuscular disorder caused by the mutation of the SACS gene. Clinical symptoms of this disease include progressive ataxia, spasticity, and peripheral neuropathy. Similar to other neuromuscular disorders, these patients are prone to physical deconditioning which may lead to a loss of functional capacity. This paper aims to evaluate the impact of a training program on the physical fitness and the functional capacity of ARSACS patients...
August 2018: Intractable & Rare Diseases Research
Nooreen Hussain, Faiz Hussain, Danish Haque, Subramanyam Chittivelu
Myasthenia Gravis (MG) is a disorder of the neuromuscular junction (NMJ) that manifests as fluctuating fatiguable weakness of the muscles. There are many factors that can exacerbate myasthenia symptoms including a variety medications and drugs, systemic illness, and pregnancy. A number of medications have been implicated in exacerbating MG symptoms, including aminoglycosides. We present a case of an elderly female with newly diagnosed MG following the use of tobramycin eye drops for 3 days. There have been limited reports in the literature of topical medications that exacerbate MG symptoms...
2018: Journal of Community Hospital Internal Medicine Perspectives
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