journal
https://read.qxmd.com/read/38593477/debamestrocel-multimodal-effects-on-biomarker-pathways-in-amyotrophic-lateral-sclerosis-are-linked-to-clinical-outcomes
#1
JOURNAL ARTICLE
Stacy R Lindborg, Namita A Goyal, Jonathan Katz, Matthew Burford, Jenny Li, Haggai Kaspi, Natalie Abramov, Bruno Boulanger, James D Berry, Katharine Nicholson, Tahseen Mozaffar, Robert Miller, Liberty Jenkins, Robert H Baloh, Richard Lewis, Nathan P Staff, Margaret Ayo Owegi, Bob Dagher, Netta R Blondheim-Shraga, Yael Gothelf, Yossef S Levy, Ralph Kern, Revital Aricha, Anthony J Windebank, Robert Bowser, Robert H Brown, Merit E Cudkowicz
INTRODUCTION/AIMS: Biomarkers have shown promise in amyotrophic lateral sclerosis (ALS) research, but the quest for reliable biomarkers remains active. This study evaluates the effect of debamestrocel on cerebrospinal fluid (CSF) biomarkers, an exploratory endpoint. METHODS: A total of 196 participants randomly received debamestrocel or placebo. Seven CSF samples were to be collected from all participants. Forty-five biomarkers were analyzed in the overall study and by two subgroups characterized by the ALS Functional Rating Scale-Revised (ALSFRS-R)...
April 9, 2024: Muscle & Nerve
https://read.qxmd.com/read/38558464/pseudoexon-activation-by-deep-intronic-variation-in-gne-myopathy-with-thrombocytopenia
#2
JOURNAL ARTICLE
Kexin Jiao, Nachuan Cheng, Xiao Huan, Jialong Zhang, Yu Ding, Xinghua Luan, LingChun Liu, Xilu Wang, Bochen Zhu, Kunzhao Du, Jiale Fan, Mingshi Gao, Xingyu Xia, Ningning Wang, Tao Wang, Jianying Xi, Sushan Luo, Jiahong Lu, Chongbo Zhao, Dongyue Yue, Wenhua Zhu
INTRODUCTION/AIMS: GNE myopathy is a rare autosomal recessive disorder caused by pathogenic variants in the GNE gene, which is essential for the sialic acid biosynthesis pathway. Although over 300 GNE variants have been reported, some patients remain undiagnosed with monoallelic pathogenic variants. This study aims to analyze the entire GNE genomic region to identify novel pathogenic variants. METHODS: Patients with clinically compatible GNE myopathy and monoallelic pathogenic variants in the GNE gene were enrolled...
April 1, 2024: Muscle & Nerve
https://read.qxmd.com/read/38558014/feasibility-of-virtual-reality-and-comparison-of-its-effectiveness-to-biofeedback-in-children-with-duchenne-and-becker-muscular-dystrophies
#3
JOURNAL ARTICLE
Merve Kurt-Aydin, Dilan Savaş-Kalender, Tülay Tarsuslu, Uluç Yis
INTRODUCTION/AIMS: The utilization of virtual reality (VR) and biofeedback training, while effective in diverse populations, remains limited in the treatment of Duchenne and Becker muscular dystrophies (D/BMD). This study aimed to determine the feasibility of VR in children with D/BMD and compare the effectiveness of VR and biofeedback in children with D/BMD. METHODS: The study included 25 children with D/BMD. Eight children in the control group participated in a routine follow-up rehabilitation program, while the remaining children were randomly assigned to the VR (n = 9) and biofeedback (n = 8) groups for a 12-week intervention...
April 1, 2024: Muscle & Nerve
https://read.qxmd.com/read/38556796/fkrp-related-muscular-dystrophy-responsive-to-immunotherapy
#4
LETTER
S Waller, J Stockwell, T Tay, R Pamphlett, S Beuzeville, W Huynh
No abstract text is available yet for this article.
March 31, 2024: Muscle & Nerve
https://read.qxmd.com/read/38551101/cross-sectional-study-of-patients-with-vcp-multisystem-proteinopathy-1-using-dual-energy-x-ray-absorptiometry
#5
JOURNAL ARTICLE
Rod Carlo Agram Columbres, Vu Luu, Minh Nguyen, Virginia Kimonis
INTRODUCTION/AIMS: VCP multisystem proteinopathy 1 (MSP1), encompassing inclusion body myopathy (IBM), Paget's disease of bone (PDB) and frontotemporal dementia (FTD) (IBMPFD), features progressive muscle weakness, fatty infiltration, and disorganized bone structure in Pagetic bones. The aim of this study is to utilize dual-energy x-ray absorptiometry (DXA) parameters to examine it as a biomarker of muscle and bone disease in MSP1. METHODS: DXA scans were obtained in 28 patients to assess body composition parameters (bone mineral density [BMD], T-score, total fat, and lean mass) across different groups: total VCP disease (n = 19), including myopathy without Paget's ("myopathy"; n = 12) and myopathy with Paget's ("Paget"; n = 7), and unaffected first-degree relatives serving as controls (n = 6)...
March 29, 2024: Muscle & Nerve
https://read.qxmd.com/read/38549468/hyperexcitability-of-the-asymptomatic-motor-cortex-in-a-case-of-mills-syndrome
#6
LETTER
Martin T Conwill, James J P Alix, Pamela J Shaw
No abstract text is available yet for this article.
March 29, 2024: Muscle & Nerve
https://read.qxmd.com/read/38549445/motor-unit-number-estimation-via-mscanfit-mune-in-spinal-muscular-atrophy
#7
JOURNAL ARTICLE
Veria Vacchiano, Francesca Morabito, Claudia Faini, Giovanna Nocera, Riccardo Not, Gaia Scarpini, Martina Romagnoli, Antonella Pini, Rocco Liguori
INTRODUCTION/AIMS: MScanFit MUNE (MScanFit) is a novel tool to derive motor unit number estimates (MUNEs) from compound muscle action potential (CMAP) scans. Few studies have explored its utility in 5q spinal muscular atrophy (SMA5q) patients, assessing only the abductor pollicis brevis (APB) muscle. We aimed to assess different distal muscles in pediatric and adult SMA5q patients, further evaluating clinical-electrophysiological correlations. METHODS: We analyzed MScanFit parameters reflecting the extent of denervation (MUNE; N50) and parameters of collateral reinnervation in APB, abductor digiti minimi (ADM), and tibialis anterior (TA) muscles...
March 29, 2024: Muscle & Nerve
https://read.qxmd.com/read/38549195/serial-electrodiagnostic-testing-utility-and-indications-in-adult-neurological-disorders
#8
JOURNAL ARTICLE
Sandra L Hearn, Amro Maher Stino, Ileana M Howard, Gautam Malhotra, Lawrence Robinson
Although existing guidelines address electrodiagnostic (EDX) testing in identifying neuromuscular conditions, guidance regarding the uses and limitations of serial (or repeat) EDX testing is limited. By assessing neurophysiological change longitudinally across time, serial electrodiagnosis can clarify a diagnosis and potentially provide valuable prognostic information. This monograph presents four broad indications for serial electrodiagnosis in adult peripheral neurological disorders. First, where clinical change has raised suspicion for a new or ongoing lesion, EDX reassessment for spatial spread of abnormality, involvement of previously normal muscle or nerve, and/or evolving pathophysiology can clarify a diagnosis...
March 28, 2024: Muscle & Nerve
https://read.qxmd.com/read/38545741/redundant-nerve-roots-on-magnetic-resonance-imaging-can-predict-ongoing-denervation-in-patients-with-lumbar-spinal-stenosis
#9
JOURNAL ARTICLE
Seoyeong Park, Sung Hwan Hong, Sun Gun Chung, Keewon Kim
INTRODUCTION/AIMS: Redundant nerve roots (RNRs) are abnormally elongated and tortuous nerve roots that develop secondary to degenerative spinal stenosis. RNRs have been associated with poorer clinical outcomes after decompression surgery; however, studies on their clinical characteristics are limited. This study aimed to investigate the association between RNRs and denervation potentials, that is, abnormal spontaneous activity (ASA), on electromyography. METHODS: We retrospectively reviewed data of patients who underwent an electrodiagnostic study of the lower extremities between January 2020 and March 2023...
March 28, 2024: Muscle & Nerve
https://read.qxmd.com/read/38533679/the-utility-of-electrodiagnostic-testing-in-unprovoked-rhabdomyolysis-in-the-era-of-next-generation-sequencing
#10
JOURNAL ARTICLE
Michael P Skolka, Margherita Milone, William J Litchy, Ruple S Laughlin, Devon I Rubin, Teerin Liewluck
INTRODUCTION/AIMS: Rhabdomyolysis is an etiologically heterogeneous, acute necrosis of myofibers characterized by transient marked creatine kinase (CK) elevation associated with myalgia, muscle edema, and/or weakness. The study aimed to determine the role of electrodiagnostic (EDX) testing relative to genetic testing and muscle biopsy in patients with unprovoked rhabdomyolysis in identifying an underlying myopathy. METHODS: EDX database was reviewed to identify unprovoked rhabdomyolysis patients who underwent EDX testing between January 2012 and January 2022...
March 27, 2024: Muscle & Nerve
https://read.qxmd.com/read/38533668/hereditary-motor-sensory-neuropathy-with-proximal-involvement-hmsn-p-associated-with-tfg-p-pro285leu-variant-in-an-italian-family-with-a-motor-neuron-disease-like-clinical-picture
#11
LETTER
Sara Cabras, Francesca Di Pede, Antonio Canosa, Maurizio Grassano, Tiziana Enrica Mongini, Giulio Gadaleta, Andrea Calvo, Adriano Chiò, Cristina Moglia, Salvatore Gallone
No abstract text is available yet for this article.
March 27, 2024: Muscle & Nerve
https://read.qxmd.com/read/38529885/botulinum-toxin-injections-for-the-treatment-of-neurogenic-thoracic-outlet-syndrome-a-systematic-review
#12
REVIEW
Tyler T Woodworth, Austin Le, Campbell Miller, Aaron Conger, Mark A Mahan, Daniel M Cushman
Botulinum toxin (BTX) injections into the musculature surrounding the brachial plexus have been examined as a potential treatment for neurogenic thoracic outlet syndrome (nTOS). This systematic review identified 15 publications, of which one was a randomized controlled trial. BTX injections performed with ultrasound or electromyographic guidance, and with the inclusion of the pectoralis minor muscle, in addition to the anterior and/or middle scalenes, tended to provide greater symptom improvement and may predict response to first rib resection...
March 26, 2024: Muscle & Nerve
https://read.qxmd.com/read/38517116/quantitative-ultrasonography-reveals-skeletal-muscle-abnormalities-in-carriers-of-dmd-pathogenic-variants
#13
JOURNAL ARTICLE
Bruna Melo Coelho Loureiro, Mariana Rabelo de Brito, Cristina Iwabe, Sergio San Juan Dertkigil, Marcondes C França
INTRODUCTION/AIMS: Carriers of DMD pathogenic variants may become symptomatic and develop muscle-related manifestations. Despite that, few studies have attempted to characterize changes in the muscles of these carriers using imaging tools, particularly muscle ultrasound (MUS). The aim of this study was to compare lower limb MUS findings in carriers of DMD pathogenic variants (cDMD) vs healthy controls. METHODS: Twenty-eight women (15 cDMD and 13 controls) underwent clinical evaluation and MUS...
March 22, 2024: Muscle & Nerve
https://read.qxmd.com/read/38515223/cardiopulmonary-exercise-testing-on-adaptive-equipment-in-children-and-adults-with-friedreich-ataxia
#14
JOURNAL ARTICLE
Nicolette A Cilenti, Jaclyn G Tamaroff, Christopher J Capiola, Walter Faig, Michael G McBride, Stephen M Paridon, Shannon O'Malley, Jonathan B Edelson, David R Lynch, Shana E McCormack, Kimberly Y Lin
INTRODUCTION/AIMS: Traditional exercise is often difficult for individuals with Friedreich ataxia (FRDA), and evidence is limited regarding how to measure exercise performance in this population. We evaluated the feasibility, reliability, and natural history of adaptive cardiopulmonary exercise test (CPET) performance in children and adults with FRDA. METHODS: Participants underwent CPET on either an arm cycle ergometer (ACE) or recumbent leg cycle ergometer (RLCE) at up to four visits (baseline, 2 weeks, 4 weeks, and 1 year)...
March 21, 2024: Muscle & Nerve
https://read.qxmd.com/read/38511270/longitudinal-data-of-serum-creatine-kinase-levels-and-motor-pulmonary-and-cardiac-functions-in-337-patients-with-duchenne-muscular-dystrophy
#15
JOURNAL ARTICLE
Hiroyuki Awano, Yoshinori Nambu, Chieko Itoh, Akihiro Kida, Tetsushi Yamamoto, Tomoko Lee, Yasuhiro Takeshima, Kandai Nozu, Masafumi Matsuo
INTRODUCTION/AIMS: Duchenne muscular dystrophy (DMD) presents with skeletal muscle weakness, followed by cardiorespiratory involvement. The need for longitudinal data regarding DMD that could serve as a control for determining treatment efficacy in clinical trials has increased notably. The present study examined the longitudinal data of Japanese DMD patients collectively and assessed individual patients with pathogenic variants eligible for exon-skipping therapy. METHODS: Patients with DMD who visited Kobe University Hospital between March 1991 and March 2019 were enrolled...
March 21, 2024: Muscle & Nerve
https://read.qxmd.com/read/38488306/evaluating-disease-status-in-idiopathic-inflammatory-myopathies-with-quantitative-muscle-ultrasound
#16
JOURNAL ARTICLE
Jie Ying Tan, Cheng Yin Tan, Mohd Azly Yahya, Nortina Shahrizaila, Khean Jin Goh
INTRODUCTION/AIMS: Muscle strength, functional status, and muscle enzymes are conventionally used to evaluate disease status in idiopathic inflammatory myopathies (IIM). This study aims to investigate the role of quantitative muscle ultrasound in evaluating disease status in IIM patients. METHODS: Patients with IIM, excluding inclusion body myositis, were recruited along with age- and sex-matched healthy controls (HC). All participants underwent muscle ultrasound and clinical assessments...
March 15, 2024: Muscle & Nerve
https://read.qxmd.com/read/38488281/role-of-artificial-intelligence-in-neuromuscular-and-electrodiagnostic-medicine
#17
JOURNAL ARTICLE
(no author information available yet)
No abstract text is available yet for this article.
March 15, 2024: Muscle & Nerve
https://read.qxmd.com/read/38488222/changes-in-the-excitability-of-anterior-horn-cells-in-a-mental-rotation-task-of-body-parts
#18
JOURNAL ARTICLE
Makoto Nomura, Yoichiro Aoyagi, Toshiaki Suzuki
INTRODUCTION/AIMS: Mental rotation (MR), a tool of implicit motor imagery, is the ability to rotate mental representations of two- or three-dimensional objects. Although many reports have described changes in brain activity during MR tasks, it is not clear whether the excitability of anterior horn cells in the spinal cord can be changed. In this study, we examined whether MR tasks of hand images affect the excitability of anterior horn cells using F-wave analysis. METHODS: Right-handed, healthy participants were recruited for this study...
March 15, 2024: Muscle & Nerve
https://read.qxmd.com/read/38482981/survival-among-patients-receiving-eteplirsen-for-up-to-8%C3%A2-years-for-the-treatment-of-duchenne-muscular-dystrophy-and-contextualization-with-natural-history-controls
#19
JOURNAL ARTICLE
Joel Iff, Nicolae Done, Edward Tuttle, Yi Zhong, Fangzhou Wei, Basil T Darras, Craig M McDonald, Eugenio Mercuri, Francesco Muntoni
INTRODUCTION/AIMS: Eteplirsen, approved in the US for patients with Duchenne muscular dystrophy (DMD) with exon 51 skip-amenable variants, is associated with attenuated ambulatory/pulmonary decline versus DMD natural history (NH). We report overall survival in a US cohort receiving eteplirsen and contextualize these outcomes versus DMD NH. METHODS: US patients with DMD receiving eteplirsen were followed through a patient support program, with data collected on ages at eteplirsen initiation and death/end of follow-up...
March 14, 2024: Muscle & Nerve
https://read.qxmd.com/read/38477416/neuromuscular-consequences-of-spinal-cord-injury-new-mechanistic-insights-and-clinical-considerations
#20
REVIEW
Mathew I B Debenham, Colin K Franz, Michael J Berger
The spinal cord facilitates communication between the brain and the body, containing intrinsic systems that work with lower motor neurons (LMNs) to manage movement. Spinal cord injuries (SCIs) can lead to partial paralysis and dysfunctions in muscles below the injury. While traditionally this paralysis has been attributed to disruptions in the corticospinal tract, a growing body of work demonstrates LMN damage is a factor. Motor units, comprising the LMN and the muscle fibers with which they connect, are essential for voluntary movement...
March 13, 2024: Muscle & Nerve
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