Newsletter #96 – July 2023

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	Newsletter #96 – July 2023

A look back at the Conference and Muscle Week The first Muscle Conference, organised by the Institute of Myology and AFM-Téléthon, took place on Thursday 1 June. On the programme: four thematic round tables attended by experts from a wide range of backgrounds who, each in their own field, reiterated the importance of considering muscle and its many benefits for the body. They all spoke of the need to improve information for the general public, education and training for healthcare professionals in the cross-disciplinary field of myology, and public health and prevention policies to improve muscular health and therefore general health at all stages of life. > Replays of the discussions (in French) This Muscle Conference inaugurated the first Muscle Week, held throughout France from 1 to 7 June 2023, the aim of which was both to raise awareness among the general public of the importance of muscle for health and to shed light on myology, a discipline that is still too far under-recognised even though it is essential. On 3 June, the Institute of Myology opened its doors and welcomed the public for conferences, exhibitions, workshops, strength tests, games, quizzes and lab visits. Muscle Week came to a close with an exceptional live broadcast on 7 June from the Institute of Myology’s Neuromuscular Physiology and Evaluation Laboratory, featuring Mélinée Frenkian, Director of Strategic Projects at the Institute of Myology, Anne-Claire de Baecque, Head of Sport and Myology Resource Development and Valérie Decostre, PhD, Physiotherapist, Research Officer, as well as a special guest: Grégory Coupet, former goalkeeper for the French Football Team and sports ambassador for the Myology Institute Association. > Watch the special Muscle Week Live broadcast (in French) > Discover the educational website dedicated to muscle (in French) Until our next issue in September, we wish you all a great summer!
At the Institute
Fabrice Chrétien appointed Director of Scientific Strategy at the Institute of Myology Fabrice Chretien, currently Director of NIC, has just been appointed Director of Scientific Strategy at the Institute of Myology. His mandate will be to define the scientific vision of the Institute, and subsequently of the Foundation, in conjunction with the Board of Directors. He will be assisted in his mission by Olivier Stephan, Head of Scientific Operations. Read more
Bruno Cadot wins the Tremplin ASEAN prize awarded by the French Ministry of Higher Education and Research and the French Academy of Sciences This prize rewards existing cooperation between two teams, one French and the other from the ASEAN zone bringing together 7 Asian countries. Its aim is to encourage cross-border mobility of young researchers. Read more
The Institute's Myology Summer School celebrates its 25th anniversary Since its inception, the Summer School of Myology has trained over 1,000 doctors of 70 different nationalities on 5 continents. Coming from Argentina, Brazil, Nepal, Peru, Latvia, Lebanon, Ivory Coast, Benin, Iran, India, Italy, Spain, England, etc., the doctors and researchers now form a truly international network of myology experts. Read more
Review of the 2023 session of the Summer School of Myology Andoni Urtizberea reviews the 2023 session of the Summer School of Myology, which was held from 12-16 June 2023 in a hybrid version. Read more
Researchers from the Institute’s NMR laboratory at the ISMRM 2023 conference Members of the NMR Imaging and Spectroscopy Laboratory presented the team's work at the annual ISMRM (International Society for Magnetic Resonance in Medicine) conference, held in Toronto from June 3 to 8, 2023. Read more
Our latest news
DM1: a promising new approach to gene therapy This strategy consists of turning off expression of the mutated DMPK gene that causes DM1 using a technique called CRISPRi (or CRISPR interference). This tool is derived from the CRISPR/Cas9 system, the inventors of which were awarded the Nobel Prize in 2020. Read more
Effects of valproic acid on skeletal muscle in two mouse models of DMD Valproic acid (VPA) is thought to improve serological and histological markers of damage in dystrophin-deficient murine muscles. Researchers tested the ability of VPA to reduce susceptibility to contraction-induced functional loss in two mouse models of DMD. Read more
Caveolinopathy: clinical, histological and muscle imaging characteristics and follow-up of a multicentre retrospective cohort Caveolinopathies are a small group of neuromuscular diseases associated with dysfunction of a family of proteins located in muscle membrane crevices. Data from 23 patients with symptomatic CAV3 mutations from 16 different families were analysed. Read more
Analysis of the largest cohort of patients with anoctaminopathy An international multicentre study reports the results of the analysis of the characteristics of 234 patients with anoctaminopathy. Read more
International guidelines for VCP myopathies An international consortium of experts, two of whom belong to the Institut de Myologie in Paris, has drawn up recommendations for this myopathy, which remains rare. Read more
Description of the first Franco-Swiss cohort in SORD-related peripheral neuropathy Defects in the SORD gene lead to hereditary distal motor neuropathy (dHMN type) or distal sensory-motor neuropathy (Charco-Marie-Tooth type). Experts from the FILNEMUS network, in association with their Swiss colleagues, published a cohort of 30 patients in March 2023. Read more
More breaking news
Base editing, under investigation in SMA This base-specific approach may allow modification of the SMN2 gene in all SMA patients, independent of the mutations that lead to loss of SMN1. Read more
The largest cohort of fetal acetylcholine receptor antibody-associated disorders A large international collaboration has reported 46 cases associated with maternal anti-fetal acetylcholine receptor antibodies (fRACh), the largest cohort ever described to date. Read more
Duchenne muscular dystrophy Restoration of brain dystrophin improves memory in mdx mice Small molecules to improve the efficacy of tricyclo-DNA antisense oligonucleotides in mdx mice DMD: first study of DEC cell therapy in humans Elevidys, the first microdystrophin gene therapy authorised for DMD, subject to conditions New results from the STRIDE study with ataluren in DMD The role of video games in the lives of young adults with DMD
Myasthenia gravis American guidelines for better assessment criteria in the evaluation of myasthenia gravis Juvenile myasthenia is different from adult myasthenia and has a relatively benign course The largest cohort of fetal acetylcholine receptor antibody-associated disorders A desensitisation protocol for myasthenic patients with intolerance to pyridostigmine The benefits of physical preparation before thymectomy in MG Is an oxymetazoline-based eye drop effective in the treatment of MG? A complementary tool for evaluating MG
Charcot-Marie-Tooth disease Five drug candidates for giant axon neuropathy Whole genome screening may be useful in the molecular diagnosis of CMT Plasma dosage of neurofilaments does not really reflect the progression of CMT
Spinal muscular atrophy Treating riboflavin transporter deficiency before birth Magnetic resonance imaging abnormalities in SMA Cure SMA 2023 Conference report
Pompe disease Risk of myocarditis identified in primates receiving gene therapy for Pompe disease Pompe disease: positive results from the COMET trial
Neuromuscular diseases The frequency of assisted ventilation is greater than its intensity Muscle ultrasound in search of standardised protocols A review of the literature confirms the value of motor function measurement (MFM)
Other neuromuscular diseases A significant proportion of fibromyalgia patients are positive for antibodies specific to or associated with myositis Vitamin and mineral deficiencies in FSH Chimeric proteins improve peripheral neuropathy in the mouse model of CMD 1A A European study clarifies the cardiac phenotype of children with muscular laminopathy Description of a French cohort of patients with caveolinopathy Extended-release aceneuramic acid is beneficial in GNE myopathy in Japan National recommendations for the management of dysimmune polyradiculoneuritis Muscle tremor is no longer the exclusive preserve of the MYBPC1 gene
In brief
AGENDA 10-14 July 2023 - 5th Neuromuscular Translational Summer School - Leiden, The Netherlands - Read more
14 September 2023 - EURO-NMD webinar - Prof. Dr. Anders Oldfors - Mitochondrial Myopathies - Read more
18-21 September 2023 - Neuropathies Rehabilitation Summer School - Roma, Italia - Read more
3-7 October 2023 - WMS 28 - Charleston, USA - Read more
14 November 23 - British Myology Society Muscle MRI workshop - Online - Read more
DOCUMENTATION Advances in research in myasthenia gravis brochure update - Read more

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Legal This newsletter is about the medical-scientific actuality of the Association Institute of Myology. It is published every two months. Chief Editor: Vincent Varlet. Editorial Board: Fabrice Chrétien; Bertrand Fontaine; Emmanuelle Guiraud; Delphine Olivier; J. Andoni Urtizberea; Vincent Varlet. Editorial staff: Anne Berthomier. Do you have any questions? Would you like to share some news? Please contact us. © 2023 - AFM - Association Institut de Myologie. ISSN 1772-9866 You are receiving this email because you have subscribed to the Association Institute of Myology’s newsletter. You no longer wish to receive our newsletter? You can unsubscribe from our mailing list by clicking here.