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Journal of Neuromuscular Diseases

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https://www.readbyqxmd.com/read/28436394/sarcomere-dysfunction-in-nemaline-myopathy
#1
Josine M de Winter, Coen A C Ottenheijm
Nemaline myopathy (NM) is among the most common non-dystrophic congenital myopathies (incidence 1:50.000). Hallmark features of NM are skeletal muscle weakness and the presence of nemaline bodies in the muscle fiber. The clinical phenotype of NM patients is quite diverse, ranging from neonatal death to normal lifespan with almost normal motor function. As the respiratory muscles are involved as well, severely affected patients are ventilator-dependent. The mechanisms underlying muscle weakness in NM are currently poorly understood...
April 19, 2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/28339402/outcomes-of-hospitalised-muscular-dystrophy-patients
#2
Ghilas Boussaid, Hélène Prigent, Gilbert Caranhac, Djillali Annane, Christian Devaux, David Orlikowski, Frédéric Lofaso
BACKGROUND: In France, referral centres in teaching hospitals were created 10 years ago to provide MD patients with treatments and follow-up designed to prevent complications and improve outcomes. Respiratory failure is a major cause of death among subjects with MD, and its prevention and treatment can serve as a touchstone for assessing the effectiveness of MD care pathways. OBJECTIVE: We report data from a preliminary study of admissions of MD patients in France and of factors associated with mortality, with special emphasis on respiratory failure [RF]...
March 20, 2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/28269796/cysteine-supplementation-may-be-beneficial-in-a-subgroup-of-mitochondrial-translation-deficiencies
#3
(no author information available yet)
No abstract text is available yet for this article.
2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/28269795/smn-blood-levels-in-a-porcine-model-of-spinal-muscular-atrophy
#4
Chitra Iyer, Xueqian Wang, Samantha R Renusch, Sandra I Duque, Allison M Wehr, Xiaokui-Molly Mo, Vicki L McGovern, W David Arnold, Arthur H M Burghes, Stephen J Kolb
BACKGROUND: Spinal Muscular Atrophy (SMA) is an autosomal recessive motor neuron disease that results in loss of spinal motor neurons, muscular weakness and, in severe cases, respiratory failure and death. SMA is caused by a deletion or mutation of the SMN1 gene and retention of the SMN2 gene that leads to low SMN expression levels.The measurement of SMN mRNA levels in peripheral blood samples has been used in SMA clinical studies as a pharmacodynamic biomarker for response to therapies designed to increase SMN levels...
2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/28269794/myofibrillar-myopathies-new-perspectives-from-animal-models-to-potential-therapeutic-approaches
#5
Sabrina Batonnet-Pichon, Anthony Behin, Eva Cabet, Florence Delort, Patrick Vicart, Alain Lilienbaum
Myofibrillar myopathies (MFMs) are muscular disorders involving proteins that play a role in the structure, maintenance processes and protein quality control mechanisms closely related to the Z-disc in the muscular fibers. MFMs share common histological characteristics including progressive disorganization of the interfibrillar network and protein aggregation. Currently no treatment is available. In this review, we describe first clinical symptoms associated with mutations of the six genes (DES, CRYAB, MYOT, ZASP, FLNC and BAG3) primary involved in MFM and defining the origin of this pathology...
2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/28269793/proton-magnetic-resonance-spectroscopy-indicates-preserved-cerebral-biochemical-composition-in-duchenne-muscular-dystrophy-patients
#6
Nathalie Doorenweerd, Melissa Hooijmans, Stephanie A Schubert, Andrew G Webb, Chiara S M Straathof, Erik W van Zwet, Mark A van Buchem, Jan J G M Verschuuren, Jos G M Hendriksen, Erik H Niks, Hermien E Kan
BACKGROUND: Duchenne muscular dystrophy (DMD) is caused by the absence of dystrophin. DMD is associated with specific learning and behavioural disabilities. In the brain, dystrophin is associated with GABAA receptors and aquaporin-4 in neurons and astrocytes, respectively, but little is known about its function. OBJECTIVE AND METHODS: In this study we aimed to compare the biochemical composition between patients and healthy controls in brain regions that are naturally rich in dystrophin using magnetic resonance spectroscopy...
2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/28269792/ryr1-related-myopathies-clinical-histopathologic-and-genetic-heterogeneity-among-17-patients-from-a-portuguese-tertiary-centre
#7
Raquel Samões, Jorge Oliveira, Ricardo Taipa, Teresa Coelho, Márcio Cardoso, Ana Gonçalves, Rosário Santos, Manuel Melo Pires, Manuela Santos
BACKGROUND: Pathogenic variants in ryanodine receptor type 1 (RYR1) gene are an important cause of congenital myopathy. The clinical, histopathologic and genetic spectrum is wide. OBJECTIVE: Review a group of the patients diagnosed with ryanodinopathy in a tertiary centre from North Portugal, as an attempt to define some phenotypical patterns that may help guiding future diagnosis. METHODS: Patients were identified from the database of the reference centre for Neuromuscular Disorders in North Portugal...
2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/28269791/measuring-habitual-physical-activity-in%C3%A2-neuromuscular-disorders-a-systematic-review
#8
Aura Cecilia Jimenez-Moreno, Jane Newman, Sarah J Charman, Michael Catt, Michael I Trenell, Grainne S Gorman, Jean-Yves Hogrel, Hanns Lochmüller
BACKGROUND: Free-living or habitual physical activity (HPA) refers to someone's performance in his or her free-living environment. Neuromuscular disorders (NMD) manifest through HPA, and the observation of HPA can be used to identify clinical risks and to quantify outcomes in research. This review summarizes and analyses previous studies reporting the assessment of HPA in NMD, and may serve as the basis for evidence-based decision-making when considering assessing HPA in this population...
2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/28269790/cardiac-involvement-classification-and-therapeutic-management-in-patients-with-duchenne-muscular-dystrophy
#9
Abdallah Fayssoil, Soumeth Abasse, Katy Silverston
Duchenne muscular dystrophy (DMD) is an inherited myogenic disorder due to mutations in the dystrophin gene on chromosome Xp21.1. The clinical picture included peripheral muscle weakness, cardiomyopathy and chronic respiratory insufficiency. In this paper, the authors review cardiac involvement in patients with DMD, propose a cardiac impairment classification and discuss therapeutic management options.
2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/28269789/histopathologic-and-biochemical-evidence-for-mitochondrial-disease-among-279-patients-with-severe-statin-myopathy
#10
Tieying Hou, Yilan Li, Weiwei Chen, Reid R Heffner, Georgirene D Vladutiu
BACKGROUND: Statins have well-known benefits in the prevention of cardiovascular disease, however, 7-29% of patients develop muscle side effects and up to 0.5% develop severe symptoms. Mitochondrial dysfunction has been associated with severe statin-induced myopathy (SM); however, there is a paucity of systematic studies in affected individuals. OBJECTIVES: The goal of this study was to combine clinical and laboratory features with quantitative biochemical and histopathologic studies of skeletal muscle biopsies from SM cases to determine what proportion could be attributed to mitochondrial dysfunction and how many of these had primary respiratory chain defects...
2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/28106565/neuromyelitis-optica-in-a-patient-from-family-with-both-myotonic-dystrophy-type%C3%A2-1-and-2
#11
V Rakocevic-Stojanovic, S Peric, I Dujmovic, J Drulovic, J Pesovic, D Savic-Pavicevic
INTRODUCTION: The aim of this study was to present a family co-segregating myotonic dystrophy type 1 (DM1) and 2 (DM2), and one member affected with neuromyelitis optica (NMO). CASE REPORT: Index case underwent cataract surgery at age 39. Although she had no muscle symptoms, genetic testing revealed a DM2 mutation and a DM1 protomutation. The patient noticed difficulties in climbing stairs at age 47. Clinical examination showed mild muscle weakness, calf hypertrophy, mild myotonia and several multisystem signs...
2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/28106564/andersen-tawil-syndrome-with-early-onset-myopathy-2-cases
#12
Gokcen Oz Tuncer, Serap Teber, Muhammed Gültekin Kutluk, Pelin Albayrak, Gülhis Deda
No abstract text is available yet for this article.
2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/27911339/author-index-volume-3-2016
#13
(no author information available yet)
No abstract text is available yet for this article.
November 29, 2016: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/27911338/sleepiness-and-sleep-related-breathing-disorders-in-myotonic-dystrophy-and-responses-to-treatment-a-prospective-cohort-study
#14
Sophie D West, Hanns Lochmüller, Joan Hughes, Antonio Atalaia, Chiara Marini-Bettolo, Simon V Baudouin, Kirstie N Anderson
OBJECTIVE: We conducted prospective assessments in people with myotonic dystrophy type 1 (DM1) with daytime sleepiness, provided targeted therapies and assessed response. METHODS: Patients had overnight sleep assessments. Treatment with continuous positive airway pressure (CPAP) for OSA, non-invasive ventilation (NIV) for respiratory failure, modafinil for excessive daytime sleepiness were commenced. RESULTS: 120 people were studied: mean age 46...
November 29, 2016: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/27911337/effect-of-the-butyrate-prodrug-pivaloyloxymethyl-butyrate-an9-on-a-mouse-model-for-spinal-muscular-atrophy
#15
Jonathan D Edwards, Matthew E R Butchbach
Spinal muscular atrophy (SMA) is an early-onset motor neuron disease that leads to loss of muscle function. Butyrate (BA)-based compounds markedly improve the survival and motor phenotype of SMA mice. In this study, we examine the protective effects of the BA prodrug pivaloyloxymethyl butyrate (AN9) on the survival of SMNΔ7 SMA mice. Oral administration of AN9 beginning at PND04 almost doubled the average lifespan of SMNΔ7 SMA mice. AN9 treatment also increased the growth rate of SMNΔ7 SMA mice when compared to vehicle-treated SMNΔ7 SMA mice...
November 29, 2016: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/27911336/decreased-aerobic-capacity-in%C3%A2-ano5-muscular-dystrophy
#16
Emil Ylikallio, Mari Auranen, Ibrahim Mahjneh, Antti Lamminen, Maria Kousi, Ann-Liz Träskelin, Tiina Muurinen, Mervi Löfberg, Tapani Salmi, Anders Paetau, Anna-Elina Lehesjoki, Päivi Piirilä, Sari Kiuru-Enari
BACKGROUND: Anoctaminopathies are muscle diseases caused by recessive mutations in the ANO5 gene. The effects of anoctaminopathy on oxidative capacity have not previously been studied in a controlled setting. OBJECTIVE: To characterize oxidative capacity in a clinically and genetically well-defined series of patients with anoctaminopathy. METHODS: We sequenced the ANO5 gene in 111 Finnish patients with suspected LGMD2. Patients with positive findings underwent close clinical examination, including electromyography, muscle MRI, and, in selected cases, muscle biopsy...
November 29, 2016: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/27911335/european-cross-sectional-survey-of%C3%A2-current-care-practices-for-duchenne-muscular-dystrophy-reveals-regional-and%C3%A2-age-dependent-differences
#17
Julia Vry, Kathrin Gramsch, Sunil Rodger, Rachel Thompson, Birgit F Steffensen, Jes Rahbek, Sam Doerken, Adrian Tassoni, María de Los Angeles Beytía, Velina Guergueltcheva, Teodora Chamova, Ivailo Tournev, Anna Kostera-Pruszczyk, Anna Kaminska, Anna Lusakowska, Lenka Mrazova, Lenka Pavlovska, Jana Strenkova, Petr Vondráček, Marta Garami, Veronika Karcagi, Ágnes Herczegfalvi, Katherine Bushby, Hanns Lochmüller, Janbernd Kirschner
BACKGROUND: Publication of comprehensive clinical care guidelines for Duchenne muscular dystrophy (DMD) in 2010 was a milestone for DMD patient management. Our CARE-NMD survey investigates the neuromuscular, medical, and psychosocial care of DMD patients in Europe, and compares it to the guidelines. METHODS: A cross-sectional survey of 1677 patients contacted via the TREAT-NMD patient registries was conducted using self-report questionnaires in seven European countries...
November 29, 2016: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/27911334/matrix-metalloproteinases-and-tissue-inhibitor-of-metalloproteinases-in%C3%A2-inflammation-and-fibrosis-of-skeletal-muscles
#18
Hala S Alameddine, Jennifer E Morgan
In skeletal muscles, levels and activity of Matrix MetalloProteinases (MMPs) and Tissue Inhibitors of MetalloProteinases (TIMPs) have been involved in myoblast migration, fusion and various physiological and pathological remodeling situations including neuromuscular diseases. This has opened perspectives for the use of MMPs' overexpression to improve the efficiency of cell therapy in muscular dystrophies and resolve fibrosis. Alternatively, inhibition of individual MMPs in animal models of muscular dystrophies has provided evidence of beneficial, dual or adverse effects on muscle morphology or function...
November 29, 2016: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/27911333/the-%C3%A2-strand-ryhming-test-is-not-a-feasible-measure-in-ambulatory-patients-with%C3%A2-amyotrophic-lateral-sclerosis
#19
Annerieke C van Groenestijn, Olaf Verschuren, Carin D Schröder, Leonard H van den Berg, Johanna M A Visser-Meily
BACKGROUND: Ambulatory patients with Amyotrophic Lateral Sclerosis (ALS) show a decreased aerobic capacity which may hamper the ability to perform activities of daily living. A standardized measure, however, for assessing aerobic capacity in patients with ALS during the disease course, is lacking. OBJECTIVE: To examine the feasibility of the Åstrand-Ryhming (ÅR) test protocol longitudinally in ambulatory patients with amyotrophic lateral sclerosis (ALS). METHODS: Seven ambulatory male patients with spinal ALS onset were assessed at baseline and at 4, 7 and 10 months' follow-up...
November 29, 2016: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/27911332/type-0-spinal-muscular-atrophy-further%C3%A2-delineation-of-prenatal-and%C3%A2-postnatal-features-in-16-patients
#20
Sarah Grotto, Jean-Marie Cuisset, Stéphane Marret, Séverine Drunat, Patricia Faure, Séverine Audebert-Bellanger, Isabelle Desguerre, Vincent Flurin, Anne-Gaëlle Grebille, Anne-Marie Guerrot, Hubert Journel, Gilles Morin, Ghislaine Plessis, Sylvain Renolleau, Joëlle Roume, Brigitte Simon-Bouy, Renaud Touraine, Marjolaine Willems, Thierry Frébourg, Eric Verspyck, Pascale Saugier-Veber
BACKGROUND: Spinal muscular atrophy (SMA) is caused by homozygous inactivation of the SMN1 gene. The SMN2 copy number modulates the severity of SMA. The 0SMN1/1SMN2 genotype, the most severe genotype compatible with life, is expected to be associated with the most severe form of the disease, called type 0 SMA, defined by prenatal onset. OBJECTIVE: The aim of the study was to review clinical features and prenatal manifestations in this rare SMA subtype. METHODS: SMA patients with the 0SMN1/1SMN2 genotype were retrospectively collected using the UMD-SMN1 France database...
November 29, 2016: Journal of Neuromuscular Diseases
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