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Neuromuscular Disorders: NMD

Richa Kulshrestha, Natalie Forrester, Thalia Antoniadi, Tracey Willis, Sethil Kumar Sethuraman, Martin Samuels
Immunoglobulin-helicase-μ-binding protein 2 (IGHMBP2) mutations are associated with partial continuum between two extremes of rapidly lethal disorder of spinal muscular atrophy with respiratory distress type 1 (SMARD1), with infantile axonal neuropathy, diaphragmatic weakness and commonly death before 1 year of age, and Charcot-Marie-Tooth disease (CMT) type 2S with slowly progressive weakness and sensory loss but no significant respiratory compromise. We present an atypical case of CMT2S. A 9 month old boy presented with bilateral feet deformities and axonal neuropathy...
October 5, 2018: Neuromuscular Disorders: NMD
Matthias Baumann, Christiane Gumpold, Wolfgang Mueller-Felber, Benedikt Schoser, Christine Haberler, Wolfgang N Loescher, Kevin Rostásy, Michael B Fischer, Julia V Wanschitz
Regenerative processes that counteract perifascicular muscle atrophy and capillary loss in juvenile dermatomyositis (JDM) are not well characterized. We aimed to analyze the pattern of myo-regeneration in relation to vascular damage and repair in muscle specimens from JDM patients. Myogenic regulatory factors that are sequentially expressed during myogenesis were studied by immunohistochemistry. Capillary density, numbers of CD34+ endothelial progenitor cells within the endomysium and molecules implicated in angiogenesis were evaluated by double-immunofluorescence techniques...
September 19, 2018: Neuromuscular Disorders: NMD
Esther E D H Abel, Edith H C Cup, Anke Lanser, Wouter K G Leclercq, Joost Raaphorst, George W Padberg, Ton Satink, Nicol C Voermans
Overweight and obesity are common in patients with facioscapulohumeral dystrophy (FSHD) and myotonic dystrophy type 1 (DM1). Lifestyle change is often challenging for patients with neuromuscular diseases, especially to increase physical activity. When lifestyle changes have not been effective, bariatric surgery is a treatment option. However, very little is known about the benefits and risks in patients with neuromuscular disorders. This study therefore aims to obtain insight into the patients' perspectives and experiences, the outcome, effects and risks of bariatric surgery in these disorders...
September 19, 2018: Neuromuscular Disorders: NMD
Nanna W Dombernowsky, Joakim N E Ölmestig, Nanna Witting, Christina Kruuse
Neuronal nitric oxide synthase (nNOS) is involved in nitric oxide (NO) production and suggested to play a crucial role in blood flow regulation of skeletal muscle. During activation of the muscle, NO helps attenuate the sympathetic vasoconstriction to accommodate increased metabolic demands, a phenomenon known as functional sympatholysis. In inherited myopathies such as the dystrophinopathies Duchenne and Becker muscle dystrophies (DMD and BMD), nNOS is lost from the sarcolemma. The loss of nNOS may cause functional ischemia contributing to skeletal and cardiac muscle cell injury...
September 11, 2018: Neuromuscular Disorders: NMD
Leonela N Luce, Micaela Carcione, Chiara Mazzanti, Marcela Ferrer, Irene Szijan, Florencia Giliberto
Dystrophinopathies are neuromuscular X-linked recessive diseases caused by mutations in the DMD gene. This study aimed to identify DMD gene small mutations by Whole Exome Sequencing (WES), in order to confirm clinical diagnosis, identify candidates for Ataluren treatment and perform carrier status testing. Furthermore, was our goal to characterize the DMD sequence variants and identify ancestral haplotypes. We analyzed 40 non-related individuals (38 affected boys with dystrophinopathy presumptive clinical diagnosis and 2 at-risk women) with negative MLPA results...
September 6, 2018: Neuromuscular Disorders: NMD
Eduardo de Paula Estephan, Antonio Alberto Zambon, Paulo Eurípedes Marchiori, André Macedo Serafim da Silva, Vitor Marques Caldas, Cristiane Araújo Martins Moreno, Umbertina Conti Reed, Rita Horvath, Ana Töpf, Hanns Lochmüller, Edmar Zanoteli
Mutations in RAPSN are an important cause of congenital myasthenic syndrome (CMS), leading to endplate acetylcholine receptor deficiency. We present three RAPSN early-onset CMS patients (from a Brazilian cohort of 61 CMS patients). Patient 1 and patient 2 harbor the mutation p.N88K in homozygosity, while patient 3 harbors p.N88K in compound heterozygosity with another pathogenic variant (p.V165M; c.493G ≥ A). At onset, patient 3 presented with more severe symptoms compared to the other two, showing generalized weakness and repeated episodes of respiratory failure in the first years of life...
September 5, 2018: Neuromuscular Disorders: NMD
Claudia Cutellè, Emanuele Rastelli, Manuela Gibellini, Giulia Greco, Erica Frezza, Annalisa Botta, Chiara Terracciano, Roberto Massa
We aimed to validate the Nine Hole Peg Test as a measure of dexterity in myotonic dystrophy type 1 (DM1). Fifty patients with adult-onset, genetically confirmed DM1 were evaluated by Nine Hole Peg Test and re-evaluated at one week. Myotonia was not a limiting factor. The first test was compared with that performed by normal subjects (n = 28). Contextually, patients underwent handgrip and three-finger pinch assessments by handheld dynamometer. The Nine Hole Peg Test showed high intra-rater and inter-rater reliability in DM1 [ICC 0...
August 31, 2018: Neuromuscular Disorders: NMD
Markus Schuelke, Michael Schwarz, Werner Stenzel, Hans H Goebel
No abstract text is available yet for this article.
August 30, 2018: Neuromuscular Disorders: NMD
Annegret Quade, Joachim Weis, Ingo Kurth, Roman Rolke, Marion Bienert, Simone Schrading, Dorothea Rohrmann, Zafer Yüksel, Martin Häusler
We report a 9-year-old girl homozygous for a loss-of-function mutation in the PIEZO-2 gene. She showed generalized muscular hypotonia with severe scoliosis, joint deformities, deficient proprioceptive function and selective atrophy and signal alterations of both gastrocnemii on whole body MRI scan. Light microscopic and ultrastructural examination showed few atrophic fibres, abnormal mitochondria, focal myofibrillar disruption and endomysial capillary microangiopathy.
August 29, 2018: Neuromuscular Disorders: NMD
Pedro J Tomaselli, Alejandro Horga, Alexander M Rossor, Zane Jaunmuktane, Andrea Cortese, Julian C Blake, Natalia Zarate-Lopez, Henry Houlden, Mary M Reilly
Biallelic mutations in the IGHMBP2 have been associated with two distinct phenotypes: spinal muscular atrophy with respiratory distress type 1 (SMARD1) and CMT2S. We describe a patient who developed progressive muscle weakness and wasting in her upper and lower limbs from infancy. She developed respiratory involvement at age 9, eventually requiring 24-h non-invasive ventilation, and severe autonomic dysfunction restricted to the gastrointestinal tract. Neurophysiological studies at age 27 years revealed absent sensory and motor responses and severe chronic denervation changes in proximal muscles of the upper limbs...
August 29, 2018: Neuromuscular Disorders: NMD
Craig M McDonald, Heather Gordish-Dressman, Erik K Henricson, Tina Duong, Nanette C Joyce, Sanjay Jhawar, Mika Leinonen, Fengming Hsu, Anne M Connolly, Avital Cnaan, Richard T Abresch
We describe changes in pulmonary function measures across time in Duchenne muscular dystrophy patients treated with glucocorticoids (GCs) > 1 year compared to GC naïve patients in the Cooperative International Research Group Duchenne Natural History Study, a multicenter prospective cohort study. 397 participants underwent 2799 pulmonary function assessments over a period up to 10 years. Fifty-three GC naïve participants (< 1 month exposure) were compared to 322 subjects with > 1 year cumulative GC treatment...
August 29, 2018: Neuromuscular Disorders: NMD
Stephanie M Shrader, SeungWoo Jung, Thomas S Denney, Bruce F Smith
In humans, dystrophin mutations cause the X-linked recessive disorder known as Duchenne muscular dystrophy (DMD). These mutations result in skeletal and cardiac muscle damage with mortality increasingly associated with cardiomyopathy. We have identified a novel dystrophin mutation in exon 21 in a line of Australian Labradoodles; affected dogs develop progressive clinical signs including poor weight gain and weight loss, gait abnormalities, exercise intolerance, skeletal muscle atrophy, macroglossa, ptyalism, dysphagia, kyphosis, and a plantigrade stance...
August 29, 2018: Neuromuscular Disorders: NMD
Oscar H Mayer, Andrea Aliverti, Thomas Meier
No abstract text is available yet for this article.
August 25, 2018: Neuromuscular Disorders: NMD
Hacer Durmus, Xin-Ming Shen, Piraye Serdaroglu-Oflazer, Bulent Kara, Yesim Parman-Gulsen, Coskun Ozdemir, Joan Brengman, Feza Deymeer, Andrew G Engel
No abstract text is available yet for this article.
October 2018: Neuromuscular Disorders: NMD
Florian Barthélémy, Nicolas Wein
Dystrophinopathies are diseases caused by mutations in the Duchenne Muscular Dystrophy gene (DMD) encoding the dystrophin protein. Depending on the type of mutation, patients develop either the severe DMD or the milder Becker Muscular Dystrophy. Although substantial effort was made, the pathophysiology and variation in disease severity are still poorly understood. During the last two decades, relentless efforts were made to develop therapeutic strategies. Among these, gene therapy and cell replacement therapy appear very promising...
October 2018: Neuromuscular Disorders: NMD
Keiko Ishigaki, Chikoto Ihara, Harumasa Nakamura, Madoka Mori-Yoshimura, Kazushi Maruo, Mariko Taniguchi-Ikeda, En Kimura, Terumi Murakami, Takatoshi Sato, Tatsushi Toda, Hisanobu Kaiya, Makiko Osawa
Fukuyama congenital muscular dystrophy (FCMD) is the second most common form of muscular dystrophy in the Japanese population and is caused by mutations in the fukutin (FKTN) gene. In 2011, the Japan Muscular Dystrophy Association (JMDA) developed a nationwide registry of genetically confirmed patients with FCMD. We retrospectively reviewed the registry dataset of patients with FCMD to obtain data, including age, sex, developmental milestones, intellectual level, complications, and primary treatments. In total, 207 patients with FCMD (104 boys and 103 girls) were registered by the end of September 2013...
October 2018: Neuromuscular Disorders: NMD
Anton Ivanyuk, Nuria García Segarra, Thierry Buclin, Andrea Klein, David Jacquier, Christopher J Newman, Clemens Bloetzer
Rhabdomyolysis with myoglobinuria is a recognized complication of dystrophinopathies. It can be triggered by infections, exercise or volatile anesthetics. To our knowledge, it has never been reported in boys with Duchenne muscular dystrophy (DMD) after the administration of bisphosphonates. We report two patients with DMD who presented an apparent transient rhabdomyolysis with myoglobinuria after zoledronate administration. Possible mechanisms could involve hypophosphatemia, a known dose-dependent side effect of bisphosphonates, and/or direct myotoxicity of biphosphonates...
October 2018: Neuromuscular Disorders: NMD
Frédéric Lofaso, Hèlene Prigent, Djillali Annane, David Orlikowski, Karim Wahbi, Pascal Laforêt, Bruno Eymard, Tanya Stojkovic, Anthony Béhin, Ghilas Boussaid
No abstract text is available yet for this article.
October 2018: Neuromuscular Disorders: NMD
M J Damen, A van der Meer, N C Voermans, A A Tieleman
We report a patient with progressive proximal muscle weakness in her legs, early-onset cataract and perceptive hearing loss, who was recently diagnosed with myotonic dystrophy type 2 (DM2). She also had two autoimmune disorders in her history, namely Graves' disease and celiac disease. Previous studies have shown a high frequency of autoimmune diseases (21%) in patients with DM2. This is the first report of a patient with DM2 and two autoimmune diseases which both have not yet been described in DM2. The cause of this association might be explained at DNA, mRNA and protein levels, including genetic mutation in flanking genes and the toxic effect of the DM2 mutation on proteins involved in inflammation...
October 2018: Neuromuscular Disorders: NMD
B Schoser
No abstract text is available yet for this article.
October 2018: Neuromuscular Disorders: NMD
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