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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...
April 16, 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...
April 16, 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 Crawford, Doug 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...
March 26, 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...
March 26, 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...
March 26, 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...
March 26, 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...
March 26, 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...
March 26, 2018: Journal of Neuromuscular Diseases
Stöllberger Claudia, Josef Finsterer
No abstract text is available yet for this article.
2018: Journal of Neuromuscular Diseases
Maaike van Putten, Annemieke Aartsma-Rus, Miranda D Grounds, Joe N Kornegay, Anna Mayhew, Thomas H Gillingwater, Shin'ichi Takeda, Markus A Rüegg, Annamaria De Luca, Kanneboyina Nagaraju, Raffaella Willmann
A workshop took place in 2015 to follow up TREAT-NMD activities dedicated to improving quality in the preclinical phase of drug development for neuromuscular diseases. In particular, this workshop adressed necessary future steps regarding common standard experimental protocols and the issue of improving the translatability of preclinical efficacy studies.
2018: Journal of Neuromuscular Diseases
Payam Mohassel, Andrew L Mammen
Anti-HMGCR myopathy was first recognized and characterized in patients with a history of statin exposure and immune-mediated necrotizing myopathy. After the discovery of anti-HMGCR autoantibodies, several international groups identified and characterized more patients, expanding the phenotypic spectrum of this disease to include pediatric patients and young adults without statin exposure and those with a chronic myopathy resembling limb-girdle muscular dystrophy. We provide a summary of clinical findings, pathologic features, muscle imaging, and immunogenetic risk factors of the disease...
2018: Journal of Neuromuscular Diseases
Sudha Bhattacharya, Satish V Khadilkar, Atchayaram Nalini, Aparna Ganapathy, Ashraf U Mannan, Partha P Majumder, Alok Bhattacharya
BACKGROUND: GNE myopathy is an adult onset recessive genetic disorder that affects distal muscles sparing the quadriceps. GNE gene mutations have been identified in GNE myopathy patients all over the world. Homozygosity is a common feature in GNE myopathy patients worldwide. OBJECTIVES: The major objective of this study was to investigate the mutation spectrum of GNE myopathy in India in relation to the population diversity in the country. MATERIALS AND METHODS: We have collated GNE mutation data of Indian GNE myopathy patients from published literature and from recently identified patients...
2018: Journal of Neuromuscular Diseases
Florian Barthélémy, Aurélia Defour, Nicolas Lévy, Martin Krahn, Marc Bartoli
Skeletal muscle undergoes many micro-membrane lesions at physiological state. Based on their sizes and magnitude these lesions are repaired via different complexes on a specific spatio-temporal manner. One of the major repair complex is a dysferlin-dependent mechanism. Accordingly, mutations in the DYSF gene encoding dysferlin results in the development of several muscle pathologies called dysferlinopathies, where abnormalities of the membrane repair process have been characterized in patients and animal models...
2018: Journal of Neuromuscular Diseases
Michael W Lawlor, Susan T Iannaccone, Katherine Mathews, Francesco Muntoni, Sherita Alai-Hansen, Joanne C Odenkirchen, Robin S Feldman
BACKGROUND: A Congenital Muscular Dystrophy (CMD) Working Group (WG) consisting of international experts reviewed common data elements (CDEs) previously developed for other neuromuscular diseases (NMDs) and made recommendations for all types of studies on CMD. OBJECTIVES: To develop a comprehensive set of CDEs, data definitions, case report forms and guidelines for use in CMD clinical research to facilitate interoperability of data collection, as part of the CDE project at the National Institute of Neurological Disorders and Stroke (NINDS)...
2018: Journal of Neuromuscular Diseases
George J Francis, Amy E Cook, Donald W Morrish, K Ming Chan, Hernish J Acharya
Many neuromuscular diseases (NMD) result in muscle weakness, immobility and greater fracture risk. The objective of this study is to determine the fracture risk of adult patients at a multidisciplinary NMD clinic. Fracture risk was calculated using the Fracture Risk Assessment Tool, the presence of osteoporosis was quantified using bone densitometry and contributing co-morbidities were screened through serum markers. Of the 36 patients studied, 47% were found to be of moderate and high fracture risk. Two thirds of these patients had not been previously screened or treated for osteoporosis...
2018: Journal of Neuromuscular Diseases
I A Pierry, Jjp Alix, D G Rao, N Hoggard, J Bigley, C J McDermott, I D Wilkinson, P J Shaw, T M Jenkins
No abstract text is available yet for this article.
2018: Journal of Neuromuscular Diseases
Ario Mirian, Lawrence Korngut
BACKGROUND: Serological testing is routinely performed in the work up for a diagnosis of Amyotrophic Lateral Sclerosis (ALS) to exclude pathologies with similar clinical phenotypes. OBJECTIVE: To determine the proportion of serological workup that changes the primary diagnosis and/or clinical management for patients presenting with signs of ALS. METHODS: A retrospective chart review was conducted on patients from the Calgary Neuromuscular Intake Clinic in which the neurologist working diagnosis post-assessment is ALS...
2018: Journal of Neuromuscular Diseases
Abdallah Fayssoil, Anthony Behin, Adam Ogna, Dominique Mompoint, Helge Amthor, Bernard Clair, Pascal Laforet, Arnaud Mansart, Helene Prigent, David Orlikowski, Tanya Stojkovic, Stéphane Vinit, Robert Carlier, Bruno Eymard, Frederic Lofaso, Djillali Annane
Respiratory muscles are classically involved in neuromuscular disorders, leading to a restrictive respiratory pattern. The diaphragm is the main respiratory muscle involved during inspiration. Ultrasound imaging is a noninvasive, radiation-free, accurate and safe technique allowing assessment of diaphragm anatomy and function. The authors review the pathophysiology of diaphragm in neuromuscular disorders, the methodology and indications of diaphragm ultrasound imaging as well as possible pitfalls in the interpretation of results...
2018: Journal of Neuromuscular Diseases
Benjamin Gallais, Cynthia Gagnon, Isabelle Côté, Geneviève Forgues, Luc Laberge
BACKGROUND: Apathy is a common debilitating symptom of myotonic dystrophy type 1 (DM1). The Apathy Evaluation Scale (AES) has been identified as a promising measurement instrument to be used in DM1 but its metrological properties must be further documented. OBJECTIVE: To determine the internal consistency of the Self (AES-S), Informant (AES-I), and Clinician (AES-C) versions of the AES and to assess the test-retest reliability, standard error of measurement, and minimal detectable change of the AES-S and AES-I in a sample of DM1 patients and their related informants...
2018: Journal of Neuromuscular Diseases
T Bernard Kinane, Oscar H Mayer, Petra W Duda, Linda P Lowes, Stephanie L Moody, Jerry R Mendell
BACKGROUND: Duchenne muscular dystrophy (DMD) is a rare, degenerative, X-linked genetic disease that results in progressive muscle loss and premature death, most commonly from respiratory or cardiac failure. DMD is primarily caused by whole exon deletions, resulting in a shift of the dystrophin mRNA reading frame that prevents production of functional dystrophin protein. Eteplirsen, a phosphorodiamidate morpholino oligomer (PMO), is designed to skip exon 51, restore the reading frame, and induce production of internally shortened dystrophin in patients with mutations amenable to such treatment...
2018: Journal of Neuromuscular Diseases
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