Neuromuscular Disorders

Jennifer Morgan, Gillian Butler-Browne, Francesco Muntoni, Ketan Patel, skeletal muscle stem cells involvement in pathology study group July 17, 2019

Twenty six participants representing patients, funding agencies and basic and clinical scientists involved in research into skeletal muscle stem cells and muscular dystrophies from France, Germany, Italy, India, UK, Australia, Spain, USA, The Netherlands and Switzerland met in Hoofddorp, The Netherlands on 25 – 27 January 2019.… Read More...

Sandra Donkervoort, James J. Dowling, Jocelyn Laporte, Daniel MacArthur, Carsten G. Bönnemann, 214th ENMC workshop participants July 13, 2019

At this ENMC meeting, a multidisciplinary group of 26 participants, including 22 clinical and basic science researchers from 11 different countries and 4 patient advocacy representatives convened to discuss the formation of a formal consortium to improve diagnosis and gene discovery for congenital myopathy (CM) and congenital muscular dystrophy (CMD).… Read More...

Stefan Nicolau, Teerin Liewluck, Xin-Ming Shen, Duygu Selcen, Andrew G. Engel, Margherita Milone July 6, 2019

Mutations in guanosine diphosphate mannose pyrophosphorylase B (GMPPB) have been found to cause a wide spectrum of neuromuscular syndromes, including congenital muscular dystrophy, limb girdle muscular dystrophy with or without cognitive impairment, recurrent rhabdomyolysis and congenital myasthenic syndrome (CMS) [1–3]. Some patients also present with myopathy-CMS overlap phenotypes [2].… Read More...

John P. Bourke, Michela Guglieri, Denis Duboc, for the ENMC 238th Workshop Study Group July 2, 2019

Twenty four neuromuscular experts, cardiologists, patient representatives and a trainee, supported by the ENMC Young Scientist Programme, from seven European countries (Belgium, Czech Republic, France, Germany, Italy, Netherlands, United Kingdom) and the United States participated in the workshop. The aims of were to: (1) agree diagnostic standards, thresholds for initiating therapy and an optimal therapy regime for cardiac dystrophinopathy; (2) determine whether there are clinically relevant genotype-phenotype correlations for cardiomyopathy in DMD; (3) review current knowledge on the potential of genetic therapies to prevent cardiac dystrophinopathy and (4) agree on guidance for the use of implantable cardioverer defibrillators and left ventricular assist devices in the management of patients with advanced cardiomyopathy.… Read More...

J. Hoskens, N. Goemans, H. Feys, L. De Waele, M. Van den Hauwe, K. Klingels June 29, 2019

Duchenne muscular dystrophy (DMD) is a X linked recessive inherited disorder characterized by a progressive muscle breakdown affecting skeletal, cardiac and respiratory muscles. A delay in motor development is one of the main characteristic of the early stage of this disease.… Read More...

Grazia Crescimanno, Francesca Greco, Rosaria D'Alia, Luigi Messina, Oreste Marrone June 29, 2019

Duchenne muscular dystrophy (DMD) is one of the most common neuromuscular diseases. It determines a progressive impairment of muscular function that can lead to inability to move, respiratory failure and death [1–3]. Although improvement in disease management and therapeutic advancements have significantly increased life expectancy [4,5], the progression of the disease and of the functional impairment is not arrested by the present treatment modalities.… Read More...

Jens Spiesshoefer, Carolin Henke, Hans Joachim Kabitz, Tobias Brix, Dennis Görlich, Simon Herkenrath, Winfried Randerath, Peter Young, Matthias Boentert June 22, 2019

Late-onset Pompe disease (LOPD) is an autosomal-recessive lysosomal storage disease caused by deficiency of the α-1,4-glucosidase enzyme [1]. This causes accumulation of glycogen in various tissues but mainly in skeletal muscle, leading to myofibrillar dysfunction, muscle atrophy and lipodystrophic changes [1].… Read More...

Alberto R. M. Martinez, Melina P. Martins, Carlos Roberto Martins, Ingrid Faber, Thiago J. R. Rezende, Anamarli Nucci, Marcondes Cavalcante França June 21, 2019

Abstract

Introduction

Sensory neuronopathies (SN) result from dorsal root ganglia damage and manifest with a combination of sensory deficits and proprioceptive ataxia. Characterization of the natural history and development of therapeutic trials are hampered by the lack of clinical scales that capture the whole spectrum of SN‐related manifestations.… Read More...

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