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Neuromuscular weakness

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https://www.readbyqxmd.com/read/28726805/prepl-deficiency-delineation-of-the-phenotype-and-development-of-a-functional-blood-assay
#1
Luc Régal, Emma Mårtensson, Isabelle Maystadt, Nicol Voermans, Damien Lederer, Alberto Burlina, María Jesús Juan Fita, A Jeannette M Hoogeboom, Mia Olsson Engman, Tess Hollemans, Meyke Schouten, Sandra Meulemans, Tord Jonson, Inge François, David Gil Ortega, Erik-Jan Kamsteeg, John W M Creemers
PurposePREPL deficiency causes neonatal hypotonia, ptosis, neonatal feeding difficulties, childhood obesity, xerostomia, and growth hormone deficiency. Different recessive contiguous gene deletion syndromes involving PREPL and a variable combination of SLC3A1 (hypotonia-cystinuria syndrome), CAMKMT (atypical hypotonia-cystinuria syndrome), and PPM1B (2p21 deletion syndrome) have been described. In isolated PREPL deficiency, previously described only once, the absence of cystinuria complicates the diagnosis...
July 20, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28723717/localized-muscle-vibration-reverses-quadriceps-muscle-hypotrophy-and-improves-physical-function-a-clinical-and-electrophysiological-study
#2
Maria Grazia Benedetti, Gennaro Boccia, Lorenzo Cavazzuti, Elena Magnani, Elisabetta Mariani, Alberto Rainoldi, Roberto Casale
Quadriceps weakness has been associated with knee osteoarthritis (OA). High-frequency localized muscle vibration (LMV) has been proposed recently for quadriceps strengthening in patients with knee OA. The purpose of this study was (a) to investigate the clinical effectiveness of high-frequency LMV on quadriceps muscle in patients with knee OA and (b) to disentangle, by means of surface electromyography (sEMG), the underlying mechanism. Thirty patients, aged between 40 and 65 years, and clinically diagnosed with knee OA were included in this randomized, controlled, single-blinded pilot study...
July 18, 2017: International Journal of Rehabilitation Research. Revue Internationale de Recherches de Réadaptation
https://www.readbyqxmd.com/read/28716694/-isolated-long-thoracic-nerve-palsy-more-than-meets-the-eye
#3
Andrés A Maldonado, Scott L Zuckerman, B Matthew Howe, Michelle L Mauermann, Robert J Spinner
INTRODUCTION: Two main hypotheses have been proposed for the pathophysiology of long thoracic nerve (LTN) palsy: nerve compression and nerve inflammation. We hypothesized that critical reinterpretation of electrodiagnostic (EDX) studies and MRIs of patients with a diagnosis of non-traumatic isolated LTN palsy could provide insight into the pathophysiology and, potentially, the treatment. MATERIAL AND METHODS: A retrospective review was performed of all patients with a diagnosis of non-traumatic isolated LTN palsy and an EDX and brachial plexus or shoulder MRI studies performed at our institution...
June 27, 2017: Journal of Plastic, Reconstructive & Aesthetic Surgery: JPRAS
https://www.readbyqxmd.com/read/28716645/update-in-management-of-severe-hypoxemic-respiratory-failure
#4
REVIEW
Dharani Kumari Narendra, Dean R Hess, Curtis N Sessler, Habtamu M Belete, Kalpalatha K Guntupalli, Felix Khusid, Charles Mark Carpati, Mark Elton Astiz, Suhail Raoof
Mortality related to severe-moderate and severe ARDS remains high. We searched the literature to update this topic. We defined severe hypoxemic respiratory failure as PaO2/FIO2 < 150 mm Hg (i.e., severe-moderate and severe ARDS). For these patients, we support setting the ventilator to a tidal volume of 4-8 mL/kg predicted body weight (PBW) with plateau pressure ≤30 cm H2O, and initial PEEP of 10 - 12 cm H2O. To promote alveolar recruitment, we propose increasing PEEP in increments of 2 - 3 cm, provided plateau pressure remains ≤30 cm H2O and driving pressure does not increase...
July 14, 2017: Chest
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
#5
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...
July 15, 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/28688959/from-gene-to-therapy-in-spinal-and-bulbar-muscular-atrophy-are-we-there-yet
#7
REVIEW
Maria Pennuto, Carlo Rinaldi
Abnormal polyglutamine expansions in the androgen receptor (AR) cause a muscular condition, known as Kennedy's disease or spinal and bulbar muscular atrophy (SBMA). The disease is transmitted in an X-linked fashion and is clinically characterized by weakness, atrophy and fasciculations of the limb and bulbar muscles as a result of a toxic gain-of-function of the mutant protein. Notably, affected males also show signs of androgen insensitivity, such as gynaecomastia and reduced fertility. The characterization of the natural history of the disease, the increasing understanding of the mechanism of pathogenesis and the elucidation of the functions of normal and mutant AR have offered a momentum for developing a rational therapeutic strategy for this disease...
July 5, 2017: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/28681861/a-defect-in-myoblast-fusion-underlies-carey-fineman-ziter-syndrome
#8
Silvio Alessandro Di Gioia, Samantha Connors, Norisada Matsunami, Jessica Cannavino, Matthew F Rose, Nicole M Gilette, Pietro Artoni, Nara Lygia de Macena Sobreira, Wai-Man Chan, Bryn D Webb, Caroline D Robson, Long Cheng, Carol Van Ryzin, Andres Ramirez-Martinez, Payam Mohassel, Mark Leppert, Mary Beth Scholand, Christopher Grunseich, Carlos R Ferreira, Tyler Hartman, Ian M Hayes, Tim Morgan, David M Markie, Michela Fagiolini, Amy Swift, Peter S Chines, Carlos E Speck-Martins, Francis S Collins, Ethylin Wang Jabs, Carsten G Bönnemann, Eric N Olson, John C Carey, Stephen P Robertson, Irini Manoli, Elizabeth C Engle
Multinucleate cellular syncytial formation is a hallmark of skeletal muscle differentiation. Myomaker, encoded by Mymk (Tmem8c), is a well-conserved plasma membrane protein required for myoblast fusion to form multinucleated myotubes in mouse, chick, and zebrafish. Here, we report that autosomal recessive mutations in MYMK (OMIM 615345) cause Carey-Fineman-Ziter syndrome in humans (CFZS; OMIM 254940) by reducing but not eliminating MYMK function. We characterize MYMK-CFZS as a congenital myopathy with marked facial weakness and additional clinical and pathologic features that distinguish it from other congenital neuromuscular syndromes...
July 6, 2017: Nature Communications
https://www.readbyqxmd.com/read/28674982/motoneuron-disease-clinical
#9
Hristelina Ilieva, Nicholas J Maragakis
ALS is a neurodegenerative disease in which the primary symptoms result in progressive neuromuscular weakness. Recent studies have highlighted that there is significant heterogeneity with regard to anatomical and temporal disease progression. Importantly, more recent advances in genetics have revealed new causative genes to the disease. New efforts have focused on the development of biomarkers that could aid in diagnosis, prognosis, and serve as pharmacodynamics markers. Although traditional pharmaceuticals continue to undergo trials for ALS, new therapeutic strategies including stem cell transplantation studies, gene therapies, and antisense therapies targeting some of the familial forms of ALS are gaining momentum...
2017: Advances in Neurobiology
https://www.readbyqxmd.com/read/28666511/unilateral-external-ophthalmoplegia-arare-presentation-of-myasthenia-gravis
#10
Muhammad Saim Khan, Asad Habib, Imran Basit
Myasthenia gravis (MG) is a disease of autoimmunity with variable and diverse clinical presentations. The target tissue is neuromuscular junction of skeletal muscles, where efficient nerve impulse transmission is hampered leading to less effective muscle contraction. Patients of MG usually present with bilateral ptosis, diplopia and fatigability, which may or may not coexist with generalised weakness, dysphagia and dysarthria. A46-year male presented with unilateral ptosis and diplopia. Except for unilateral moderate ptosis and restriction of extraocular movements, ocular and systemic examination was normal...
November 2016: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28662779/ocular-vestibular-evoked-myogenic-potential-in-patients-with-myasthenia-gravis-a-prospective-clinical-study
#11
Mohammad El-Sayed Mojahed, Elsaeid Mohamed Thabet, Mohamed Galal El-Khateeb, Ashraf Elsayed Morgan
OBJECTIVE: Myasthenia gravis (MG) is an archetypic disorder of neuromuscular junctions (NMJs) and autoantibody-mediated disease causing fatigable weakness of skeletal muscles with an ocular onset in up to 85%. The aim of this study was to detect extra ocular muscles (EOMs) abnormalities in MG patients using ocular vestibular evoked myogenic potential (oVEMP) n10 response. METHODS: The oVEMP was performed on 40 myasthenia gravis patients that were divided into three groups: newly diagnosed (10 patients), uncontrolled on treatment (15 patients) and controlled on treatment (15 patients) groups in addition to a control group of 10 subjects...
June 26, 2017: Auris, Nasus, Larynx
https://www.readbyqxmd.com/read/28660733/prospective-measurement-of-quality-of-life-in-myotonic-dystrophy-type-1
#12
S Peric, C Heatwole, E Durovic, A Kacar, A Nikolic, I Basta, A Marjanovic, Z Stevic, D Lavrnic, V Rakocevic Stojanovic
INTRODUCTION: Generic patient reported outcome measures have had varied success in tracking QoL in myotonic dystrophy type 1 (DM1). AIM: To analyze changes of Individualized Neuromuscular Quality of Life questionnaire (INQoL) scores in clinic patients with DM1 over a 6-year period. METHOD: Patients completed the INQoL at baseline and after a 6-year period through their attendance in a neurology outpatient clinic. Severity of muscular involvement in DM1 was analyzed using the Muscular Impairment Rating Scale (MIRS)...
June 28, 2017: Acta Neurologica Scandinavica
https://www.readbyqxmd.com/read/28660205/pneumothoraces-in-collagen-vi-related-dystrophy-a-case-series-and-recommendations-for-management
#13
Kristin L Fraser, Scott Wong, A Reghan Foley, Sameer Chhibber, Carsten G Bönnemann, Daniel J Lesser, Carla Grosmann, Anne Rutkowski
Collagen VI-related dystrophy (collagen VI-RD) is a rare neuromuscular condition caused by mutations in the COL6A1, COL6A2 or COL6A3 genes. The phenotypic spectrum includes early-onset Ullrich congenital muscular dystrophy, adult-onset Bethlem myopathy and an intermediate phenotype. The disorder is characterised by distal hyperlaxity and progressive muscle weakness, joint contractures and respiratory insufficiency. Respiratory insufficiency is attributed to chest wall contractures, scoliosis, impaired diaphragmatic function and intercostal muscle weakness...
April 2017: ERJ Open Research
https://www.readbyqxmd.com/read/28658177/short-term-microcurrent-electrical-neuromuscular-stimulation-to-improve-muscle-function-in-the-elderly-a-randomized-double-blinded-sham-controlled-clinical-trial
#14
RANDOMIZED CONTROLLED TRIAL
Dong Rak Kwon, Jihoon Kim, Yongmin Kim, Sungho An, Jinmyoung Kwak, Sungjae Lee, Suyeon Park, Yoon Hee Choi, Yang Kyun Lee, Ji Woong Park
BACKGROUND: Microcurrent electrical neuromuscular stimulation (MENS) has been suggested to improve muscle function and restore damaged muscle. However, current evidence is insufficient to determine the effectiveness of this therapy in age-dependent muscle weakness. Therefore, a prospective, randomized, double-blinded, sham-controlled clinical trial was designed to evaluate the effects of short-term MENS on muscle function in the elderly. METHODS: A total of 38 healthy elderly participants aged 65 years and above were enrolled and randomly divided into 2 stimulation groups: real or sham MENS group...
June 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28658030/fatigue-and-physical-fitness-of-mildly-disabled-persons-with-multiple-sclerosis-a-cross-sectional-study
#15
Maxime Valet, Thierry Lejeune, Yumiko Glibert, Jean C Hakizimana, Vincent Van Pesch, Souraya El Sankari, Christine Detrembleur, Gaëtan Stoquart
Fatigue is frequent and disabling in persons with multiple sclerosis (pwMS) with mild neurological disability. These patients also have impaired physical fitness. Whether mildly disabled pwMS are deconditioned, and this deconditioning is linked to fatigue, remains unknown. Our aim is to determine the physical fitness of mildly disabled patients with multiple sclerosis and study its relationship with perceived fatigue and to link perceived fatigue with other parameters. Twenty patients (14 women; mean age: 45...
June 27, 2017: International Journal of Rehabilitation Research. Revue Internationale de Recherches de Réadaptation
https://www.readbyqxmd.com/read/28650411/recording-fewer-than-20-potential-pairs-with-sfemg-may-suffice-for-the-diagnosis-of-myasthenia-gravis
#16
Alon Abraham, Ari Breiner, Carolina Barnett, Hans D Katzberg, Vera Bril
PURPOSE: Our aim in the current study was to determine the minimum number of SFEMG potential pairs required to confirm neuromuscular junction impairment and relate this number to disease severity. METHODS: Ninety-four patients with myasthenia gravis (MG) attending the neuromuscular clinic from February 2013 to November 2015 were included. The SFEMG sensitivity was determined for each number of recorded pairs up to 20. In addition, we compared clinical and electrophysiologic characteristics between patients with abnormality within the first 3, 4 to 7, and ≥8 recorded pairs to determine whether this number is associated with disease severity...
June 20, 2017: Journal of Clinical Neurophysiology: Official Publication of the American Electroencephalographic Society
https://www.readbyqxmd.com/read/28636643/neuromuscular-electrical-stimulation-prevents-skeletal-muscle-dysfunction-in-adjuvant-induced-arthritis-rat
#17
Koichi Himori, Daisuke Tatebayashi, Keita Kanzaki, Masanobu Wada, Håkan Westerblad, Johanna T Lanner, Takashi Yamada
Skeletal muscle weakness is a prominent feature in patients with rheumatoid arthritis (RA). In this study, we investigated whether neuromuscular electrical stimulation (NMES) training protects against skeletal muscle dysfunction in rats with adjuvant-induced arthritis (AIA). AIA was produced by intraarticular injection of complete Freund's adjuvant into the knees of Wistar rats. For NMES training, dorsiflexor muscles were stimulated via a surface electrode (0.5 ms pulse, 50 Hz, 2 s on/4 s off). NMES training was performed every other day for three weeks and consisted of three sets produced at three min intervals...
2017: PloS One
https://www.readbyqxmd.com/read/28635482/diagnosis-and-management-of-myasthenia-gravis
#18
Christopher Barber
Myasthenia gravis is a rare long-term neurological condition that is characterised by fluctuating skeletal muscle weakness and fatigue, as well as respiratory difficulties. It is both an acquired autoimmune disease and a chronic neuromuscular disorder. Because of its rarity, myasthenia gravis is relatively unknown and may be unfamiliar to many nurses. While there are various types of myasthenia, this article focuses on myasthenia gravis, exploring its symptoms, diagnosis and treatment, and examining the nurse's role in managing the condition...
June 21, 2017: Nursing Standard
https://www.readbyqxmd.com/read/28620310/abdominal-binding-improves-neuromuscular-efficiency-of-the-human-diaphragm-during-exercise
#19
Sara J Abdallah, David S Chan, Robin Glicksman, Cassandra T Mendonca, Yuanming Luo, Jean Bourbeau, Benjamin M Smith, Dennis Jensen
We tested the hypothesis that elastic binding of the abdomen (AB) would enhance neuromuscular efficiency of the human diaphragm during exercise. Twelve healthy non-obese men aged 24.8 ± 1.7 years (mean ± SE) completed a symptom-limited constant-load cycle endurance exercise test at 85% of their peak incremental power output with diaphragmatic electromyography (EMGdi) and respiratory pressure measurements under two randomly assigned conditions: unbound control (CTRL) and AB sufficient to increase end-expiratory gastric pressure (Pga,ee) by 5-8 cmH2O at rest...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28608304/lambert-eaton-myasthenic-syndrome-lems-a-rare-autoimmune-presynaptic-disorder-often-associated-with-cancer
#20
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
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