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Journal of Neuromuscular Diseases

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https://read.qxmd.com/read/30614809/report-of-a-treat-nmd-world-duchenne-organisation-meeting-on-dystrophin-quantification-methodology
#1
Annemieke Aartsma-Rus, Jennifer Morgan, Pallavi Lonkar, Hendrik Neubert, Jane Owens, Michael Binks, Marisol Montolio, Rahul Phadke, Nicole Datson, Judith Van Deutekom, Glenn E Morris, V Ashutosh Rao, Eric P Hoffman, Francesco Muntoni, Virginia Arechavala-Gomeza
Representatives of academia, patient organisations, industry and the United States Food and Drug Administration attended a workshop on dystrophin quantification methodology. The aims of the workshop were to provide an overview of methods used to quantify dystrophin levels in human skeletal muscle and their applicability to clinical trial samples, outline the gaps with regards to validating the methods for robust clinical applications prior to regulatory agency review, and to align future efforts towards further optimizing these methods...
January 2, 2019: Journal of Neuromuscular Diseases
https://read.qxmd.com/read/30614808/management-of-adrenal-insufficiency-risk-after-long-term-systemic-glucocorticoid-therapy-in-duchenne-muscular-dystrophy-clinical-practice-recommendations
#2
Sasigarn A Bowden, Anne M Connolly, Kathi Kinnett, Philip S Zeitler
Long-term glucocorticoid therapy has improved outcomes in patients with Duchenne muscular dystrophy. However, the recommended glucocorticoid dosage suppresses the hypothalamic-pituitary-adrenal axis, leading to adrenal insufficiency that may develop during severe illness, trauma or surgery, and after discontinuation of glucocorticoid therapy. The purpose of this review is to highlight the risk of adrenal insufficiency in this patient population, and provide practical recommendations for management of adrenal insufficiency, glucocorticoid withdrawal, and adrenal function testing...
January 2, 2019: Journal of Neuromuscular Diseases
https://read.qxmd.com/read/30594933/perspectives-on-spinraza-nusinersen-treatment-study-views-of-individuals-and-parents-of-children-diagnosed-with-spinal-muscular-atrophy
#3
Michelle Pacione, Carly E Siskind, John W Day, Holly K Tabor
BACKGROUND: Spinal muscular atrophy (SMA) is a genetic disorder characterized by muscle loss. In December 2016 the FDA approved the first and only treatment drug for SMA: Spinraza (nusinersen). Despite excitement and optimism, there are no published data on the perceptions of individuals with SMA and their families about the benefits, risks, and challenges associated with treatment. OBJECTIVE: This qualitative interview study sought to characterize the perspectives of patients/families with SMA who did not want, or were unsure about, receiving this new innovative treatment for a previously untreatable and often fatal condition...
2019: Journal of Neuromuscular Diseases
https://read.qxmd.com/read/30562906/perceived-fatigue-in-spinal-muscular-atrophy-a-pilot-study
#4
Sally Dunaway Young, Jacqueline Montes, Samantha S Kramer, Bernadette Podwika, Ashwini K Rao, Darryl C De Vivo
BACKGROUND: Fatigue is a common complaint in spinal muscular atrophy (SMA). Fatigability is well described in ambulatory SMA but the relationship to perceived fatigue has not been evaluated. Understanding this relationship has proven challenging for most disorders. OBJECTIVE: To assess the relationship of perceived fatigue to fatigability, function, and quality of life in SMA. METHODS: Thirty-two participants with SMA (21.9% type 2, 78.1% type 3) were recruited...
December 14, 2018: Journal of Neuromuscular Diseases
https://read.qxmd.com/read/30562905/lower-extremity-functional-outcome-measures-in-duchenne-muscular-dystrophy-a-delphi-survey
#5
Claudia R Senesac, Donovan J Lott, Rebecca J Willcocks, Tina Duong, Barbara K Smith
BACKGROUND: Duchenne muscular dystrophy (DMD) is a progressive neuromuscular disease characterized by progressive muscle weakness, multiple system involvement and premature mortality. Effective treatments for DMD through clinical trials and natural history studies are currently underway. Clinical trials in DMD typically include several outcome measures of motor function. Research sites and studies have been found to have slightly different operational definitions for a given functional outcome resulting in different procedures and protocols for these measurements...
December 14, 2018: Journal of Neuromuscular Diseases
https://read.qxmd.com/read/30562904/echographic-assessment-of-diaphragmatic-function-in-duchenne-muscular-dystrophy-from-childhood-to-adulthood
#6
Abdallah Fayssoil, Cendrine Chaffaut, Adam Ogna, Tanya Stojkovic, Laure Lamothe, Dominique Mompoint, Paris Meng, Helene Prigent, Bernard Clair, Anthony Behin, Pascal Laforet, Guillaume Bassez, Robert Carlier, David Orlikowski, Helge Amthor, Susana Quijano Roy, Pascal Crenn, Sylvie Chevret, Bruno Eymard, Frederic Lofaso, Djillali Annane
BACKGROUND: Duchenne muscular dystrophy (DMD) is an X-linked recessive genetic muscle disorder. Respiratory muscle function is classically affected in this disease. Ultrasound recently emerged as a non-invasive tool to assess diaphragm function. However, there are only a few studies using diaphragm ultrasound (US) in DMD. PURPOSE: We aimed to assess diaphragm ultrasound patterns in DMD, their relationship with age and their association with home mechanical ventilation (HMV)...
December 8, 2018: Journal of Neuromuscular Diseases
https://read.qxmd.com/read/30507584/muscle-strength-and-aerobic-capacity-in-patients-with-cidp-one-year-after-participation-in-an-exercise-trial
#7
Lars K Markvardsen, Anne-Kathrine R Carstens, Kirsten L Knak, Kristian Overgaard, John Vissing, Henning Andersen
BACKGROUND: We have previously shown that patients with chronic inflammatory demyelinating polyneuropathy (CIDP) improve muscle strength and aerobic capacity after resistance and aerobic exercise. OBJECTIVE: The purpose of this study was to determine if muscle strength and aerobic capacity are preserved one year after discontinuation of regular exercise. METHODS: All patients in the previous exercise study were eligible for a one-year follow-up with measurement of combined isokinetic muscle strength (cIKS) by dynamometry and maximal oxygen consumption velocity (VO2-max)...
November 27, 2018: Journal of Neuromuscular Diseases
https://read.qxmd.com/read/30714971/myotubular-trust-2019-call-for-projects-open-to-international-applications
#8
(no author information available yet)
No abstract text is available yet for this article.
2019: Journal of Neuromuscular Diseases
https://read.qxmd.com/read/30714970/the-position-of-neuromuscular-patients-in-shared-decision-making-report-from-the-235th-enmc-workshop-milan-italy-january-19-20-2018
#9
Hanns Lochmüller, Anna Ambrosini, Baziel van Engelen, Mats Hansson, Aad Tibben, Alexandra Breukel, Ellen Sterrenburg, Guus Schrijvers, Ingeborg Meijer, George Padberg, Holly Peay, Lucia Monaco, Mike Snape, Anne Lennox, Elena Mazzone, Nathalie Bere, Mencia de Lemus, Erik Landfeldt, Raffaella Willmannon
In the era of patient-centered medicine, shared decision-making (SDM) - in which healthcare professionals and patients exchange information and preferences and jointly reach a decision - has emerged as the gold standard model for the provision of formal healthcare. Indeed, in many geographical settings, patients are frequently invited to participate in choices concerning the design and delivery of their medical management. From a clinical perspective, benefits of this type of patient involvement encompass, for example, enhanced treatment satisfaction, improved medical compliance, better health outcomes, and maintained or promoted quality of life...
2019: Journal of Neuromuscular Diseases
https://read.qxmd.com/read/30714969/responsiveness-to-change-of-5-point-mrc-scale-endurance-and-functional-evaluation-for-assessing-myositis-in-daily-clinical-practice
#10
Océane Landon-Cardinal, Hervé Devilliers, Nathalie Chavarot, Kuberaka Mariampillai, Aude Rigolet, Baptiste Hervier, Yves Allenbach, Olivier Benveniste
BACKGROUND: Manual muscle testing has been widely used for the evaluation of muscle strength in myositis, yet less attention has been devoted to the evaluation of muscle function and endurance. OBJECTIVE: Our objective was therefore to compare the responsiveness to change of muscle strength, endurance and functional testing following induction therapy for severe myositis flare (requiring high-dose corticosteroids and combined immunotherapy) in patients with a diagnosis of dermatomyositis, immune-mediated necrotizing myopathy, or overlap myositis...
2019: Journal of Neuromuscular Diseases
https://read.qxmd.com/read/30714968/reliability-and-validity-of-self-report-questionnaires-as-indicators-of-fatigue-in-ryr1-related-disorders
#11
Anna Kuo, Joshua J Todd, Jessica W Witherspoon, Tokunbor A Lawal, Jeffery Elliott, Irene C Chrismer, Monique O Shelton, Muslima S Razaqyar, Minal S Jain, Ruhi Vasavada, Melissa Waite, Bart Drinkard, Darren Michael, Alicia Richarte, Carsten G Bönnemann, Katherine G Meilleur
BACKGROUND: RYR1-related disorders (RYR1-RD), are a spectrum of genetic neuromuscular disorders. Affected individuals frequently experience fatigue yet appropriate tools to assess RYR1-RD-associated fatigue remain underdeveloped. OBJECTIVE: This study assessed the reliability and validity of two self-report questionnaires, the multidimensional fatigue inventory (MFI-20) and adult/pediatric functional assessment of chronic illness-fatigue (FACIT-F/Peds-FACIT-F) as potential fatigue measures in RYR1-RD affected individuals...
2019: Journal of Neuromuscular Diseases
https://read.qxmd.com/read/30714967/exploration-of-new-contrasts-targets-and-mr-imaging-and-spectroscopy-techniques-for-neuromuscular-disease-a-workshop-report-of-working-group-3-of-the-biomedicine-and-molecular-biosciences-cost-action-bm1304-myo-mri
#12
Gustav J Strijkers, Ericky C A Araujo, Noura Azzabou, David Bendahan, Andrew Blamire, Jedrek Burakiewicz, Pierre G Carlier, Bruce Damon, Xeni Deligianni, Martijn Froeling, Arend Heerschap, Kieren G Hollingsworth, Melissa T Hooijmans, Dimitrios C Karampinos, George Loudos, Guillaume Madelin, Benjamin Marty, Armin M Nagel, Aart J Nederveen, Jules L Nelissen, Francesco Santini, Olivier Scheidegger, Fritz Schick, Christopher Sinclair, Ralph Sinkus, Paulo L de Sousa, Volker Straub, Glenn Walter, Hermien E Kan
Neuromuscular diseases are characterized by progressive muscle degeneration and muscle weakness resulting in functional disabilities. While each of these diseases is individually rare, they are common as a group, and a large majority lacks effective treatment with fully market approved drugs. Magnetic resonance imaging and spectroscopy techniques (MRI and MRS) are showing increasing promise as an outcome measure in clinical trials for these diseases. In 2013, the European Union funded the COST (co-operation in science and technology) action BM1304 called MYO-MRI (www...
2019: Journal of Neuromuscular Diseases
https://read.qxmd.com/read/30452422/phase-1-study-of-edasalonexent-cat-1004-an-oral-nf-%C3%AE%C2%BAb-inhibitor-in-pediatric-patients-with-duchenne-muscular-dystrophy
#13
Erika Finanger, Krista Vandenborne, Richard S Finkel, H Lee Sweeney, Gihan Tennekoon, Sabrina Yum, Maria Mancini, Pradeep Bista, Andrew Nichols, Hanlan Liu, Angelika Fretzen, Joanne M Donovan
BACKGROUND: Edasalonexent is an orally administered small molecule designed to inhibit NF-κB, which is activated from infancy in Duchenne muscular dystrophy and is central to causing muscle damage and preventing muscle regeneration. OBJECTIVE: Evaluate the safety, tolerability, pharmacokinetics and exploratory pharmacodynamics of three doses of edasalonexent in ambulatory males ≥4 to <8 years of age with genetically confirmed Duchenne muscular dystrophy. METHODS: This was a 1-week, open-label, multiple-dose study with 3 sequential ascending doses (33, 67 and 100 mg/kg/day) of edasalonexent administered under different dietary conditions to 17 males with a mean age of 5...
November 15, 2018: Journal of Neuromuscular Diseases
https://read.qxmd.com/read/30452423/pattern-of-habitual-physical-exercise-in-myasthenia-gravis-patients
#14
Laura O'Connor, Elisabet Westerberg, Anna Rostedt Punga
BACKGROUND: Notwithstanding the amount of deliberate exercise, the daily patterns of active versus sedentary behavior have a major influence on health outcomes [1]. Patterns of habitual active and sedentary behavior in Myasthenia Gravis (MG) patients, as well as their possible relations to disease activity, are not known. OBJECTIVE: To evaluate baseline patterns of physical and sedentary behavior in MG patients. METHODS: Activity patterns of twenty-seven MG patients were assessed by a Dynaport MoveMonitor (McRoberts) accelerometer, worn for seven consecutive days...
November 12, 2018: Journal of Neuromuscular Diseases
https://read.qxmd.com/read/30400104/increased-blood-pressure-and-body-mass-index-as-potential-modifiable-factors-in-the-progression-of-myocardial-dysfunction-in-duchenne-muscular-dystrophy
#15
N M van de Velde, A A W Roest, E W van Zwet, E H Niks
BACKGROUND: Duchenne muscular dystrophy (DMD) is characterized by progressive cardiomyopathy. Left ventricular (LV) function may worsen by factors increasing LV afterload such as hypertension and obesity. OBJECTIVE: To identify potential modifiable risk factors for progression of cardiomyopathy in Duchenne muscular dystrophy (DMD). METHODS: We retrospectively analysed systolic blood pressures (SBP) and body-mass indexes (BMI) from 273 visits of 65 DMD patients aged 4-18 years between 2003 and 2016, divided in 14 age groups...
October 29, 2018: Journal of Neuromuscular Diseases
https://read.qxmd.com/read/30372688/homozygous-nonsense-mutation-p-q274x-in-trim63-murf1-in-a-patient-with-mild-skeletal-myopathy-and-cardiac-hypertrophy
#16
Manu Jokela, Peter Baumann, Sanna Huovinen, Sini Penttilä, Bjarne Udd
TRIM63 mutations have been described as a potential cause for cardiac and skeletal myopathy in only one family so far. We describe a new patient carrying the same homozygous TRIM63 nonsense mutation c.739 C>T p.Q247X, that was originally reported in two members of a Spanish family manifesting cardiac hypertrophy. One of these original patients also had an additional heterozygous mutation in TRIM54 and a much more severe phenotype also involving skeletal muscles, and a digenic inheritance was therefore suggested...
October 25, 2018: Journal of Neuromuscular Diseases
https://read.qxmd.com/read/30175982/respiratory-assessment-of-als-patients-a-nationwide-survey-of-current-dutch-practice
#17
T B M Tilanus, J T Groothuis, J M C Ten Broek-Pastoor, J Doorduin, B G M van Engelen, M J Kampelmacher, J Raaphorst
BACKGROUND AND OBJECTIVE: Non-invasive ventilation (NIV) is an established treatment for respiratory failure in patients with amyotrophic lateral sclerosis (ALS). Several studies have shown room for improvement with regard to respiratory care for ALS patients, including latency of referral. These studies focused on the time period starting at the moment of referral to a home ventilation service (HVS) onwards. In the current study we performed a nationwide survey to gain insight in the trajectory before referral...
August 27, 2018: Journal of Neuromuscular Diseases
https://read.qxmd.com/read/30373960/report-on-the-4th-ottawa-international-conference-on-neuromuscular-disease-and-biology-september-5-7-2017-ottawa-canada
#18
Jodi Warman Chardon, Bernard J Jasmin, Rashmi Kothary, Robin J Parks
No abstract text is available yet for this article.
2018: Journal of Neuromuscular Diseases
https://read.qxmd.com/read/30372689/respiratory-assessment-of-als-patients-a-nationwide-survey-of-current-dutch-practice
#19
T B M Tilanus, J T Groothuis, J M C Ten Broek-Pastoor, J Doorduin, B G M van Engelen, M J Kampelmacher, J Raaphorst
BACKGROUND AND OBJECTIVE: Non-invasive ventilation (NIV) is an established treatment for respiratory failure in patients with amyotrophic lateral sclerosis (ALS). Several studies have shown room for improvement with regard to respiratory care for ALS patients, including latency of referral. These studies focused on the time period starting at the moment of referral to a home ventilation service (HVS) onwards. In the current study we performed a nationwide survey to gain insight in the trajectory before referral...
2018: Journal of Neuromuscular Diseases
https://read.qxmd.com/read/30320597/diagnostic-accuracy-of-phenotype-classification-in-duchenne-and-becker-muscular-dystrophy-using-medical-record-data1
#20
Jennifer G Andrews, Molly M Lamb, Kristin Conway, Natalie Street, Christina Westfield, Emma Ciafaloni, Dennis Matthews, Christopher Cunniff, Shree Pandya, Deborah J Fox
Dystrophinopathies are caused by mutations in DMD resulting in progressive muscle weakness. They are historically divided into the more severe Duchenne (DMD) and milder Becker (BMD) muscular dystrophy phenotypes. Classification is important for research and clinical care. The purpose of this study was to describe a multi-variable approach to classifying cases from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet) and to assess the accuracy of the diagnostic classification scheme...
2018: Journal of Neuromuscular Diseases
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