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Journal of Neuromuscular Diseases

Lotte Heutinck, Merel Jansen, Yolanda van den Elzen, Dick van der Pijl, Imelda J M de Groot
BACKGROUND: In boys with Duchenne muscular dystrophy (DMD), loss of upper limb function becomes more evident after the onset of wheelchair-dependency, because of the inability to lift the arms against gravity. With an increasing population of older wheelchair-dependent boys with DMD it is worthwhile to know whether training can delay the loss of upper limb functions. Dynamic arm supports may enable boys with impaired arm function to train their muscles without becoming exhausted by providing external mechanical compensation for muscle weakness...
July 6, 2018: Journal of Neuromuscular Diseases
Luc J Hébert, Christophe Vial, Jean-Yves Hogrel, Jack Puymirat
BACKGROUND: In Myotonic Dystrophy type 1 (DM1) patients, ankle muscles are affected early and this impairment is reported to be a good biological marker for longitudinal studies. OBJECTIVE: To characterize the ankle dorsiflexion (DF) and eversion (EV) maximal isometric muscle strength changes in adult DM1 patients over 5 years using a standardized handheld dynamometer protocol and the Myoankle method, compare the changes measured with both methods and to the standard error of measurement, and verify the relationship between ankle muscle strength and gait performance...
June 4, 2018: Journal of Neuromuscular Diseases
Maria E Farrugia, Marina Di Marco, Denyse Kersel, Caroline Carmichael
BackgroundFatigue in myasthenia gravis (MG) is common and difficult to manage. Unlike myasthenic weakness it is not amenable to drug therapies.ObjectiveOur primary aim was to investigate whether a combination of physical and psychological therapy would help address symptoms of fatigue in MG patients, who have stable disease but residual problematic fatigue. Our secondary aim was to quantitate fatigue by applying different scores and to ascertain which would be most relevant to apply in MG.MethodsWe recruited 10 MG patients with stable disease and who suffer from fatigue...
June 4, 2018: Journal of Neuromuscular Diseases
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No abstract text is available yet for this article.
2018: Journal of Neuromuscular Diseases
Hanns Lochmüller, David Evans, Wildon Farwell, Richard Finkel, Nathalie Goemans, Mencia de Lemus, Vitaliy Matyushenko, Francesco Muntoni, Marie-Christine Ouillade, Inge Schwersenz, Petra Wilson
No abstract text is available yet for this article.
2018: Journal of Neuromuscular Diseases
Ellen Strijbos, Jan J G M Verschuuren, Jan B M Kuks
A patient with autoimmune myasthenia gravis and a clinical and serological follow-up of 13 years is described. In this unique case, serum samples were available up to two years before the clinical onset of the myasthenia gravis and showed gradual increase of acetylcholine receptor antibodies, starting two years before onset of the clinical symptoms.
2018: Journal of Neuromuscular Diseases
Jens Schmidt
Inflammatory disorders of the skeletal muscle include polymyositis (PM), dermatomyositis (DM), (immune mediated) necrotizing myopathy (NM), overlap syndrome with myositis (overlap myositis, OM) including anti-synthetase syndrome (ASS), and inclusion body myositis (IBM). Whereas DM occurs in children and adults, all other forms of myositis mostly develop in middle aged individuals. Apart from a slowly progressive, chronic disease course in IBM, patients with myositis typically present with a subacute onset of weakness of arms and legs, often associated with pain and clearly elevated creatine kinase in the serum...
2018: Journal of Neuromuscular Diseases
Allan M Glanzman, Elena S Mazzone, Sally Dunaway Young, Richard Gee, Kristy Rose, Anna Mayhew, Leslie Nelson, Chris Yun, Katie Alexander, Basil T Darras, Zarazuela Zolkipli-Cunningham, Gihan Tennekoon, John W Day, Richard S Finkel, Eugenio Mercuri, Darryl C De Vivo, Ron Baldwin, Kathie M Bishop, Jacqueline Montes
BACKGROUND: Training methodology was established to optimize reliability of outcome measures in the nusinersen clinical trials. The Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND), Hammersmith Functional Motor Scale Expanded (HFMSE), and Revised Upper Limb (RULM) were primary or secondary outcomes. METHODS: Video review, quarterly conference calls, and item scoring checks supported evaluator competence. Baseline and screening along with video review established intra and inter-rater reliability...
2018: Journal of Neuromuscular Diseases
Océane Landon-Cardinal, Diane Friedman, Marguerite Guiguet, Pascal Laforêt, Nicholas Heming, Emmanuelle Salort-Campana, Fabienne Jouen, Yves Allenbach, Olivier Boyer, Lucienne Chatenoud, Bruno Eymard, Tarek Sharshar, Olivier Benveniste
BACKGROUND: Several retrospective case series have suggested rituximab (RTX) might improve patients with refractory Myasthenia Gravis (MG). OBJECTIVE: In this study, we aimed to evaluate prospectively the efficacy of RTX on muscle function in refractory generalized anti-acetylcholine receptor (AChR) MG patients. METHODS: Enrolled patients received 1 g of RTX at day 0, day 14, and 6-month follow-up (M6). The primary endpoint was improvement of muscle function at 12-month (M12) based on myasthenic muscle score (MMS)...
2018: Journal of Neuromuscular Diseases
Lisa Clausen, Judith Cossins, David Beeson
BACKGROUND: Congenital myasthenic syndromes (CMS) are a group of inherited neuromuscular transmission disorders causing fatiguable muscle weakness. ADRB2 agonists have been observed to provide therapeutic benefit where destabilisation of NMJ structures is part of the underlying pathology, such as in DOK7, COLQ and MuSK CMS as well as in slow channel syndrome. However, very little is known about the molecular mechanisms underlying the effects of ADRB2 agonists in CMS. OBJECTIVE: In vitro investigation into whether an ADRB2 agonist affects the AChR clustering pathway and has the potential to increase the number and stability of AChR clusters...
2018: Journal of Neuromuscular Diseases
Émilie Petitclerc, Luc J Hébert, Jean Mathieu, Johanne Desrosiers, Cynthia Gagnon
BACKGROUND: Although adult and late-onset DM1 phenotypes DM1 present distinct lower limb weaknesses portraits, resulting physical limitations have never been described separately for each phenotype. OBJECTIVE: To characterize the lower limb weaknesses and physical limitations among the DM1 adult and late-onset phenotypes separately and to document the contribution of weaknesses on mobility to optimize the management of this population. METHODS: The strength of four muscle groups among 198 participants was quantified...
2018: Journal of Neuromuscular Diseases
Caroline Van Heugten, Susan Meuleman, Danique Hellebrekers, Esther Kruitwagen-van Reenen, Johanna Visser-Meily
BACKGROUND: Myotonic Dystrophy type 1 (DM1) is primarily a neuromuscular disease but can also have neuropsychological consequences (i.e.cognitive, emotional and behavioural) which can influence daily living and societal participation. Not much is known about the level of participation of DM1 patients and their relatives and the factors influencing participation. This information can guide the development of rehabilitation programs and identify those at risk of long-term participation problems...
2018: Journal of Neuromuscular Diseases
Astrid Pechmann, Thorsten Langer, David Schorling, Sabine Stein, Sibylle Vogt, Ulrike Schara, Heike Kölbel, Oliver Schwartz, Andreas Hahn, Kerstin Giese, Jessika Johannsen, Jonas Denecke, Claudia Weiß, Manuela Theophil, Janbernd Kirschner
BACKGROUND: Spinal muscular atrophy (SMA) is a neuromuscular disorder characterized by muscle weakness and muscle atrophy. Nusinersen acts as a splicing modifier and has recently been approved for intrathecal treatment of SMA. OBJECTIVE: Prior to approval, nusinersen was provided to patients with SMA type 1 in Germany within an Expanded Access Program (EAP). In contrast to previous clinical trials, children of different age groups and different stages of the disease were treated with nusinersen...
2018: Journal of Neuromuscular Diseases
Kylie M Cornwall, Russell J Butterfield, Antonio Hernandez, Chad Heatwole, Nicholas E Johnson
Congenital muscular dystrophies (CMD) cause progressive muscle weakness resulting in severe motor disabilities. Previous studies focused on the effects of motor disability. Here, we explore other factors affecting health related quality-of-life (HRQOL) in CMD. Qualitative interviews were conducted with participant-parent dyads to identify symptoms having the greatest impact on HRQOL. Symptoms were classified into themes and domains representing physical, mental, social health, and disease specific issues. Social role limitations and specific activity impairment were frequently mentioned...
2018: Journal of Neuromuscular Diseases
Jacqueline Glascock, Jacinda Sampson, Amanda Haidet-Phillips, Anne Connolly, Basil Darras, John Day, Richard Finkel, R Rodney Howell, Katherine Klinger, Nancy Kuntz, Thomas Prior, Perry B Shieh, Thomas O Crawford, Douglas Kerr, Jill Jarecki
BACKGROUND: Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by the degeneration of alpha motor neurons in the spinal cord, leading to muscular atrophy. SMA is caused by deletions or mutations in the survival motor neuron 1 gene (SMN1). In humans, a nearly identical copy gene, SMN2, is present. Because SMN2 has been shown to decrease disease severity in a dose-dependent manner, SMN2 copy number is predictive of disease severity. OBJECTIVE: To develop a treatment algorithm for SMA-positive infants identified through newborn screening based upon SMN2 copy number...
2018: Journal of Neuromuscular Diseases
Lisa Belter, Suzanne F Cook, Thomas O Crawford, Jill Jarecki, Cynthia C Jones, John T Kissel, Mary Schroth, Kenneth Hobby
BACKGROUND: The Cure SMA database is one of the largest patient reported databases for people affected with SMA. OBJECTIVE: The purpose of this study was to examine a subset of affected SMA persons with types I, II, and III from a patient reported database. METHODS: Individuals with SMA were selected from the database using a date of first contact to Cure SMA between 2010 and 2016. Data analyzed included age at diagnosis, number of weeks from SMA diagnosis to contacting Cure SMA, and geographic distribution of individuals...
2018: Journal of Neuromuscular Diseases
Erik Stålberg, João Aris Kouyoumdjian, Gabriel Pina Paiva, Larissa Luri Yanaze, Donald B Sanders
Comparing results from jitter studies performed with voluntary and electrical activation is difficult to perform quantitatively, particularly in complex signals as seen in reinnervation. High jitter values in individual spikes in these multispike signals can be missed with both activation methods, which introduces a bias towards more normal values.With voluntary activation, triggering on a spike from an abnormal end-plate in multispike potentials will overestimate individual jitter values and the number of abnormal jitter values...
2018: Journal of Neuromuscular Diseases
John C W Hildyard, Frances Taylor-Brown, Claire Massey, Dominic J Wells, Richard J Piercy
BACKGROUND: Dogs with dystrophin-deficient muscular dystrophy are valuable models of the equivalent human disease, Duchenne Muscular Dystrophy (DMD): unlike the mdx mouse, these animals present a disease severity and progression that closely matches that found in human patients. Canine models are however less thoroughly characterised than the established mdx mouse in many aspects, including gene expression. Analysis of expression in muscle plays a key role in the study of DMD, allowing monitoring and assessment of disease progression, evaluation of novel biomarkers and gauging of therapeutic intervention efficacy...
2018: Journal of Neuromuscular Diseases
Xavière Lornage, Pascal Sabouraud, Béatrice Lannes, Dominique Gaillard, Raphaël Schneider, Jean-François Deleuze, Anne Boland, Julie Thompson, Johann Böhm, Valérie Biancalana, Jocelyn Laporte
Congenital myopathies are clinically and genetically heterogeneous, and are classified based on typical structural abnormalities on muscle sections. Recessive mutations in the striated muscle preferentially expressed protein kinase (SPEG) were recently reported in patients with centronuclear myopathy (CNM) associated in most cases with dilated cardiomyopathy. Here we report the identification of novel biallelic truncating SPEG mutations in a patient with moderate congenital myopathy without clinical and histological hallmarks of CNM and without cardiomyopathy...
2018: Journal of Neuromuscular Diseases
Madoka Mori-Yoshimura, Satomi Mitsuhashi, Harumasa Nakamura, Hirofumi Komaki, Kanako Goto, Naohiro Yonemoto, Fumi Takeuchi, Yukiko K Hayashi, Miho Murata, Yuji Takahashi, Ichizo Nishino, Shin'ichi Takeda, En Kimura
BACKGROUND: Obtaining an adequate number of patients to conduct a natural history study for rare diseases such as Becker muscular dystrophy (BMD) is difficult. OBJECTIVES: The present study used data from Remudy, a national registry for neuromuscular diseases in Japan, to conduct a phenotypic analysis of BMD. METHODS: We analyzed Remudy data of participants with dystrophinopathy. All participants who were aged 17 and older and were ambulant at age 13 were included in this study...
2018: Journal of Neuromuscular Diseases
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