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https://www.readbyqxmd.com/read/29353237/beyond-motor-neurons-expanding-the-clinical-spectrum-in-kennedy-s-disease
#1
REVIEW
Raquel Manzano, Gianni Sorarú, Christopher Grunseich, Pietro Fratta, Emanuela Zuccaro, Maria Pennuto, Carlo Rinaldi
Kennedy's disease, or spinal and bulbar muscular atrophy (SBMA), is an X-linked neuromuscular condition clinically characterised by weakness, atrophy and fasciculations of the limb and bulbar muscles, as a result of lower motor neuron degeneration. The disease is caused by an abnormally expanded triplet repeat expansions in the ubiquitously expressed androgen receptor gene, through mechanisms which are not entirely elucidated. Over the years studies from both humans and animal models have highlighted the involvement of cell populations other than motor neurons in SBMA, widening the disease phenotype...
January 20, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29351413/mitochondrial-content-is-preserved-throughout-disease-progression-in-the-mdx-mouse-model-of-duchenne-muscular-dystrophy-regardless-of-taurine-supplementation
#2
Robert G Barker, Victoria L Wyckelsma, Hongyang Xu, Robyn M Murphy
Mitochondrial dysfunction is a pathological feature of Duchenne muscular Dystrophy (DMD), a debilitating and fatal neuromuscular disorder characterised by progressive muscle wasting and weakness. Mitochondria are a source of cellular ATP and involved in Ca2+ regulation and apoptotic signalling. Ameliorating aberrant mitochondrial function has therapeutic potential for reducing DMD disease severity. The dystrophic mdx mouse exhibits peak muscle damage at 21-28d which stabilises after 8 weeks. The amino acid taurine is implicated in mitochondrial health and function, with endogenous concentrations low when measured during the cycle of peak muscle damage in mdx mice...
December 20, 2017: American Journal of Physiology. Cell Physiology
https://www.readbyqxmd.com/read/29343142/a-500%C3%A2-u-2%C3%A2-ml-dilution-of-abobotulinumtoxina-vs-placebo-randomized-study-in-cervical-dystonia
#3
Mark F Lew, Allison Brashear, Khashayar Dashtipour, Stuart Isaacson, Robert A Hauser, Pascal Maisonobe, Daniel Snyder, William Ondo
Purpose/aim: AbobotulinumtoxinA (Dysport®, Ipsen Biopharmaceuticals, Inc., Basking Ridge, NJ, USA) is an acetylcholine release inhibitor and a neuromuscular blocking agent. The United States prescribing information for abobotulinumtoxinA previously indicated only one dilution for cervical dystonia: 500 U/1 mL. Clinical trial data supporting a larger volume with a 500 U/2 mL dilution would offer clinicians flexibility with injection volume to better meet patient needs. MATERIALS AND METHODS: We conducted a 12-week, phase 3b, multicenter, randomized, double-blind, placebo-controlled trial (NCT01753310)...
January 17, 2018: International Journal of Neuroscience
https://www.readbyqxmd.com/read/29339325/induction-of-anti-agrin-antibodies-causes-myasthenia-gravis-in-mice
#4
Min Yan, Ziyang Liu, Erkang Fei, Wenbing Chen, Xinsheng Lai, Bin Luo, Peng Chen, Hongyang Jing, Jin-Xiu Pan, Michael H Rivner, Wen-Cheng Xiong, Lin Mei
Myasthenia gravis (MG) is an autoimmune disorder ofthe neuromuscular junction (NMJ). Most cases of MG are caused by autoantibodies against the acetylcholine receptor (AChR),muscle-specific kinase (MuSK) and low-density lipoprotein receptor-related protein 4 (LRP4). Recent studies have identified anti-agrin antibodies in MG patients lacking these three antibodies (i.e., triple negative MG). Agrin is a basal lamina protein that has two isoforms. Neural agrin (N-agrin) binds to LRP4 to activate MuSK to induce AChR clusters and is thus critical for NMJ formation...
January 12, 2018: Neuroscience
https://www.readbyqxmd.com/read/29334041/autoantibodies-to-low-density-lipoprotein-receptor-related-protein-4-in-double-seronegative-myasthenia-gravis-a-systematic-review
#5
Stephen Bacchi, Philippe Kramer, Colin Chalk
BACKGROUND: Myasthenia gravis (MG) is an autoimmune disorder of the neuromuscular junction in which a clinical diagnosis may be confirmed with serological testing. The most common autoantibodies used to support a diagnosis of MG are anti-acetylcholine receptor antibodies and anti-muscle-specific tyrosine kinase antibodies. In cases in which both of these autoantibodies are negative (termed double-seronegative [dSNMG]), other autoantibodies such as low-density lipoprotein receptor-related protein 4 (LRP4) may be used to aid in diagnosis...
January 2018: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/29332117/pseudocholinesterase-levels-in-patients-under-electroconvulsive-therapy
#6
Gamze Küçükosman, Özcan Pişkin, Volkan Hancı, Rahşan D Okyay, Hilal Ayoğlu, Bülent S Yurtlu, Mehmet Akın, Işıl Ö Turan
In this study, we aimed to retrospectively assess the correlation of pseudocholinesterase (PChE) levels with age, gender, body weight and diagnosed psychiatric diseases in electroconvulsive therapy (ECT) cases. Methods: This retrospective study was conducted at Bülent Ecevit University Hospital, Zonguldak, Turkey, between 2007 and 2011. In the study, 193 ECT case files were retrospectively scanned to evaluate PChE values before ECT and other file information.  Results: There was no difference between gender in terms of PChE levels...
January 2018: Saudi Medical Journal
https://www.readbyqxmd.com/read/29326002/prevalence-of-adult-pompe-disease-in-patients-with-proximal-myopathic-syndrome-and-undiagnosed-muscle-biopsy
#7
Amir Golsari, Arzoo Nasimzadah, Götz Thomalla, Sarah Keller, Christian Gerloff, Tim Magnus
We examined patients with limb-girdle muscle weakness and/or hyper-CKaemia and undiagnosed muscle biopsy for late onset Pompe disease (LOPD). Patients with an inconclusive limb-girdle muscle weakness who presented at our neuromuscular centre between 2005 and 2015 with undiagnosed muscle biopsies were examined by dry blood spot testing (DBS) including determination of the enzyme activity of acid alpha-glucosidase (GAA). In the case of depressed enzyme activity, additional gene testing of the GAA gene was carried out...
December 7, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29317806/profile-of-sugammadex-for-reversal-of-neuromuscular-blockade-in-the-elderly-current-perspectives
#8
REVIEW
Michele Carron, Francesco Bertoncello, Giovanna Ieppariello
The number of elderly patients is increasing worldwide. This will have a significant impact on the practice of anesthesia in future decades. Anesthesiologists must provide care for an increasing number of elderly patients, who have an elevated risk of perioperative morbidity and mortality. Complications related to postoperative residual neuromuscular blockade, such as muscle weakness, airway obstruction, hypoxemia, atelectasis, pneumonia, and acute respiratory failure, are more frequent in older than in younger patients...
2018: Clinical Interventions in Aging
https://www.readbyqxmd.com/read/29315608/clinical-and-research-strategies-for-limb-girdle-congenital-myasthenic-syndromes
#9
REVIEW
Emily O'Connor, Ana Töpf, René Zahedi, Sally Spendiff, Daniel Cox, Andreas Roos, Hanns Lochmüller
Congenital myasthenic syndromes (CMS) are a group of rare disorders that cause fatigable muscle weakness due to defective signal transmission at the neuromuscular junction, a specialized synapse between peripheral motor neurons and their target muscle fibers. There are now over 30 causative genes that have been reported for CMS. Of these, there are 10 that are associated with a limb-girdle pattern of muscle weakness and are thus classed as LG-CMS. Next-generation sequencing and advanced methods of data sharing are likely to uncover further genes that are associated with similar clinical phenotypes, contributing to better diagnosis and effective treatment of LG-CMS patients...
January 5, 2018: Annals of the New York Academy of Sciences
https://www.readbyqxmd.com/read/29306600/a-missense-mutation-in-dync1h1-gene-causing-spinal-muscular-atrophy-lower-extremity-dominant
#10
Joyutpal Das, James B Lilleker, Kavaldeep Jabbal, John Ealing
Spinal muscular atrophy (SMA) is a hereditary neuromuscular disorder, which causes progressive muscle weakness and in severe cases respiratory failure and death. Although the majority of the SMA cases are autosomal recessive, there is an autosomal dominant variant of SMA that primarily affects the lower extremities, known as 'spinal muscular atrophy - lower extremity, dominant' (SMALED). Mutations in the Dynein Cytoplasmic 1 Heavy Chain 1 (DYNC1H1) gene were the first to be associated with SMALED. Here we report a family with SMALED caused by a pathogenic heterozygous missense c...
December 14, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/29298851/atypical-periodic-paralysis-and-myalgia-a-novel-ryr1-phenotype
#11
Emma Matthews, Christoph Neuwirth, Fatima Jaffer, Renata S Scalco, Doreen Fialho, Matt Parton, Dipa Raja Rayan, Karen Suetterlin, Richa Sud, Roland Spiegel, Rachel Mein, Henry Houlden, Andrew Schaefer, Estelle Healy, Jacqueline Palace, Ros Quinlivan, Susan Treves, Janice L Holton, Heinz Jungbluth, Michael G Hanna
OBJECTIVE: To characterize the phenotype of patients with symptoms of periodic paralysis (PP) and ryanodine receptor (RYR1) gene mutations. METHODS: Cases with a possible diagnosis of PP but additional clinicopathologic findings previously associated with RYR1-related disorders were referred for a tertiary neuromuscular clinical assessment in which they underwent detailed clinical evaluation, including neurophysiologic assessment, muscle biopsy, and muscle MRI. Genetic analysis with next-generation sequencing and/or targeted Sanger sequencing was performed...
January 3, 2018: Neurology
https://www.readbyqxmd.com/read/29296622/relationships-between-grip-strength-myotonia-and-ctg-expansion-in-myotonic-dystrophy-type-1
#12
Jean-Yves Hogrel, Gwenn Ollivier, Isabelle Ledoux, Luc J Hébert, Bruno Eymard, Jack Puymirat, Guillaume Bassez
In myotonic dystrophy type 1, several studies have suggested causal relationships between CTG repeat length and the severity of symptoms, such as weakness or myotonia. We aimed to explore these relationships in a large population of 144 DM1 patients. All patients underwent clinical and functional assessments using a standardized test for grip strength and myotonia assessment. Myotonia was assessed using a fully automatic software based on mathematical modeling of relaxation force curve. CTG repeat length was statistically correlated with both myotonia and grip strength, which are two major primary neuromuscular symptoms of DM1 patients...
December 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29291259/age-related-changes-in-the-structure-and-function-of-mammalian-neuromuscular-junctions
#13
REVIEW
Silvia Willadt, Mark Nash, Clarke Slater
As mammals age, their neuromuscular junctions (NMJs) change their form, with an increasingly complex system of axonal branches innervating increasingly fragmented regions of postsynaptic differentiation. It has been suggested that this remodeling is associated with impairment of neuromuscular transmission and that this contributes to age-related muscle weakness in mammals, including humans. Here, we review previous work on NMJ aging, most of which has focused on either structure or function, as well as a new study aimed at seeking correlation between the structure and function of individual NMJs...
December 31, 2017: Annals of the New York Academy of Sciences
https://www.readbyqxmd.com/read/29288631/gait-disorders
#14
REVIEW
Jessica M Baker
Walking is an extraordinarily complex task requiring integration of the entire nervous system, making gait susceptible to a variety of underlying neurological abnormalities. Gait disorders are particularly prevalent in the elderly and increase fall risk. In this review, we discuss an approach to the examination of gait, and highlight key features of common gait disorders and their underlying causes. We review gaits due to lesions of motor systems (spasticity and neuromuscular weakness), the cerebellum and sensory systems (ataxia), parkinsonism, and frontal lobes and discuss the remarkably diverse phenomenology of functional (psychogenic) gait disorders...
December 27, 2017: American Journal of Medicine
https://www.readbyqxmd.com/read/29282812/frequency-and-circumstances-of-falls-for-people-with-charcot-marie-tooth-disease-a-cross-sectional-survey
#15
Gita M Ramdharry, Louise Reilly-O'Donnell, Robert Grant, Mary M Reilly
OBJECTIVE: People with Charcot-Marie-Tooth (CMT) disease may be at risk of falls due to distal muscle weakness and sensory impairment. We aimed to understand the frequency of falls in a cohort, where they occurred, injury and to what people attributed the possible cause. DESIGN: A cross-sectional survey design was used. It was sent by post to ascertain the frequency of falls and near falls, plus the circumstances of the last three falls events they could recall...
December 28, 2017: Physiotherapy Research International: the Journal for Researchers and Clinicians in Physical Therapy
https://www.readbyqxmd.com/read/29246857/new-cav2-calcium-channel-gating-modifiers-with-agonist-activity-and-therapeutic-potential-to-treat-neuromuscular-disease
#16
Man Wu, Hayley V White, Blake Boehm, Christopher J Meriney, Kaylan Kerrigan, Michael Frasso, Mary Liang, Erika M Gotway, Madeleine Wilcox, Jon W Johnson, Peter Wipf, Stephen D Meriney
Voltage-gated calcium channels (VGCCs) are critical regulators of many cellular functions, including the activity-dependent release of chemical neurotransmitter from nerve terminals. At nerve terminals, the Cav2 family of VGCCs are closely positioned with neurotransmitter-containing synaptic vesicles. The relationship between calcium ions and transmitter release is such that even subtle changes in calcium flux through VGCCs have a strong influence on the magnitude of transmitter released. Therefore, modulators of the calcium influx at nerve terminals have the potential to strongly affect transmitter release at synapses...
December 12, 2017: Neuropharmacology
https://www.readbyqxmd.com/read/29246625/clinical-and-genetic-diversity-of-nemaline-myopathy-from-a-single-neuromuscular-center-in-korea
#17
Jong-Mok Lee, Jeong Geun Lim, Jin-Hong Shin, Young-Eun Park, Dae-Seong Kim
Nemaline myopathy (NM), the most common of the congenital myopathies, is caused by various genetic mutations. In this study, we attempted to identify the causative mutations of NM and to reveal any specific genotype-phenotype relationship in Korean patients with this disease. We investigated the clinical features and genotypes in 15 pathologically diagnosed NM patients, using whole exome sequencing (WES) combined with targeted sequencing and array-based comparative genomic hybridization. This strategy revealed pathogenic causative mutations in seven patients (46...
December 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/29243896/diagnostics-and-current-care-of-myasthenia-gravis
#18
Sari Atula, Kathrin Pfau, Tapani Salmi, Eero Sihvo, Mikko Haapio, Mika Saarela, Mari Auranen
Myasthenia gravis (MG) is the most common neuromuscular transmission disorder, causing weakness of skeletal muscles on exertion. The course of the disease is highly variable, symptoms and signs may change rapidly due to infection or pregnancy. MG is classified using serological, electrophysiological and pharmaceutical tools. A precise diagnosis allows for the choice of right treatment, predicts the course of disease and hence helps with the follow-up. In this review we present Finnish guidelines for diagnostics, treatment and follow-up of MG patients...
2017: Duodecim; Lääketieteellinen Aikakauskirja
https://www.readbyqxmd.com/read/29243682/orthodontic-surgical-treatment-electromyographic-and-kinesiographic-evaluation-in-follow-up-period-experimental-study
#19
Lucia Giannini, Cinzia Maspero, Guido Galbiati, Laima Kairyte, Federica Zanoni, Giampietro Farronato
INTRODUCTION: The aim of this study was to investigate muscular function and mandibular kinesiology of patients undergoing orthodontic-surgical treatment by electromyography and kinesiography. Electromyographic evaluation is essential to estimate masticatory forces in patients undergoing combined surgical-orthodontic treatment. MATERIALS AND METHODS: 60 patients referred for orthodontic surgical treatment were included in the study, 43 patients presented a class III while 17 presented a class II...
2017: Stomatologija
https://www.readbyqxmd.com/read/29241710/new-insights-into-the-gene-expression-associated-to-amyotrophic-lateral-sclerosis
#20
REVIEW
Daniela Recabarren-Leiva, Marcelo Alarcón
Amyotrophic lateral sclerosis (ALS) is the most prevalent neuromuscular disease worldwide. It is a lethal and progressive neurodegenerative disease, principally affecting motor neurons; patient clinical characteristics are muscle weakness, dysphagia and respiratory failure. The mean age is related to family history (40years, familial ALS or FALS) or with no family history (50years), but it is more common in people aged 60-69years. The cause of ALS is not known and it is not known yet why it affects some people and not others...
December 11, 2017: Life Sciences
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