Newsletter #88

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	Newsletter #88

In a few days, the 2021 Telethon will kick off! Soprano, the mentor of this edition, will be in the spotlight alongside the AFM-Telethon, families and thousands of volunteers. Everyone will do their utmost to raise the counter during the 30 hours. Among the highlights of this year, the 1st LOVERUN BY TÉLÉTHON. The principle: on December 4th, 2021, meet in an exceptional place, the Stade de France, to run as a duo or in a group, united by a link, for the benefit of the Telethon. > I take my tickets Do you want to own a unique work of contemporary art? To live an exceptional experience with a personality? To give you a collector’s item? The GREAT TOMBOLA OF THE TELETHON is back! > I try my luck At the Institute of Myology, staff have been mobilizing since mid-November to do their Telethon and offers you BOOKTHON (book and toy sales), TOMBOLA et PIEDTHONE (freestyle running). > Find the events on offer by the institute (in french) > I make a donation to support the fundraising of the Institute of Myology!
At the institute
Grand Live Special Ambition Myology Foundation with Dr Vincent Varlet in replay Grand Live replay during which Vincent VARLET, Secretary General of the Institute of Myology, presented on Thursday 18 November at 6.30 p.m., our research center dedicated to the Science of Muscle and its DataMyo project which places digital and artificial intelligence at the heart of research development issues in order to improve diagnosis and the emergence of new treatments. Read more
A cross-perspective into DATAMYO A cross-perspective into this project by Dr Vincent Varlet (Secretary General of the Institute of Myology, Emergency doctor) and Dr Teresinha Evangelista (Neurologist and Histopathologist at the Institute of Myology). Read more
Myasthenia gravis: launch of the MYaEX study The Institute of Myology and AFM-Telethon are launching MYaEX, a large national survey that aims to understand what determines the practice of physical exercise in these pathologies of the neuromuscular junction, and to identify the factors that can slow down or facilitate it. Read more
The institute’s teams present at the ‘Journées de la Société Française de Myologie’ This meeting is a privileged moment for exchanges between clinicians and fundamental researchers around the latest discoveries in the field of myology. Read more
The operation ‘1000 researchers in schools in France and abroad’ continues The operation “1000 researchers in schools in France and abroad” bringing together researchers, middle and high school students, for a moment of sharing intended to discover the reality of research, is underway and will end on the 3rd December, the day the Telethon 2021 will be launched. Read more
Our latest news
Next-generation pacemaker successfully implanted in an adult with DMD Heart complications are part of the natural history of Duchenne muscular dystrophy (DMD), especially in adulthood, where they are responsible for a significant number of deaths. Besides cardiomyopathy related to fibrotic degeneration of the myocardial tissue, heart rhythm disorders and, especially, conduction disorders, represent clinical situations that are critical and not uncommon. Read more
The Institute of Myology jointly discovers a new form of X-linked distal myopathy An international collaboration that included researchers from the Institute of Myology has discovered a new form of distal myopathy, in 10 men. This condition was identified in 5 different countries, and researchers are suggesting that cases exist in all populations, with a probable founder effect in France and in southern Europe. Read more
Can physical exercise at home be useful in patients with myasthenia gravis? Myasthenia gravis is the result of an imbalance in the immune system, causing the production of autoantibodies that act against one of the building blocks of the neuromuscular junction. This non-hereditary neuromuscular disease is characterised by a muscle deficit that usually comes and goes, with particular ocular and bulbar impact, and when it becomes generalised, can be the cause of significant disability and, very often, persistent fatigue. Read more
SMA type 1: the results of the STR1VE-EU trial confirm the efficacy of Zolgensma These data confirm the significant improvement obtained during the STR1VE trial, an American trial with the same design, conducted among 22 participants, and the results of which appeared in April 2021. Read more
LAMA2-related CMD: full body MRI of 27 patients shows consistent topography of brain and muscle impairments Results of an analysis of images obtained from full body magnetic resonance imaging (MRI) of 27 patients with LAMA2-related congenital muscular dystrophy (CMD), aged 2 to 62 years, 6 of whom had never acquired the ability to walk Read more
A recurrent mutation of the RYR1 gene is responsible for a congenital form of myopathy with benign progression Although the usual mode of presentation of RYR1-related myopathies is that of congenital myopathy, the range of phenotypes related to pathogenic variants of this gene is constantly widening. Read more
An axonal form of Charcot-Marie-Tooth disease is clinically similar to proximal spinal muscular atrophy European researchers have identified thirty individuals with a rare form of axonal CMT disease with mutations in the NEFH gene, coding a neurofilament (CMT type 2CC). Read more
The measured impact of Covid-19 in neuromuscular patients during the first French confinement The French Rare Health Care for Neuromuscular Diseases Network (FILNEMUS) and patient associations, notably the AFM-Telethon, conducted a multicenter study during the first wave of the Covid-19 pandemic in France, from March 25, 2020 to May 11, 2020. Read more
Muscular dystrophy: the challenges of cell transplantation Cell transplantation has been considered a possible treatment strategy for muscular dystrophy for decades, but there have been more failures than successes, if not encouraging results so far. Read more
The diaphragm, a predictor of restrictive respiratory failure in DMD patients Respiratory status is a key determinant of prognosis in patients with DMD, the most common myopathy in children. The disease results in progressive muscle deficit predominantly at the root of the limbs and is accompanied by cardio-respiratory complications. Read more
More breaking news
A monoclonal antibody effective against the fibrosis observed in DMD In DMD, the fibrosis observed in both skeletal muscle and myocardium is the most often irreversible outcome of a process of degeneration of the muscle fiber. American researchers have developed a monoclonal antibody directed against the LTBP4 protein which interacts with the growth factor TGFb. Read more
The plectinopathies: a wide range of neuromuscular and non-neuromuscular phenotypes Plectin is a large protein that stabilises the position of intermediate filaments inside the cell. An Austrian team has reviewed this protein’s involvement in the area of neuromuscular disease and beyond. Read more
Spinal muscular atrophy SMA type 1: preliminary results of FIREFISH, a trial evaluating risdiplam Preliminary results of FIREFISH, a trial evaluating ridisplam in type 1 SMA Better known risks of Zolgensma WMS2021 and SMA: between innovative therapy and biotherapy Newborn screening for SMA becomes official in Belgium The deterioration of respiratory and motor parameters is confirmed in non-walking patients with type III SMA HAS opinion for Evrysdi® (risdiplam) Specific anthropometric curves for patients with SMA ? An indwelling intrathecal catheter used experimentally in the US for nusinersen injections in SMA A motion analysis tool without body sensors developed for the objective assessment of movement in children with SMA Dual therapy, more effective in SMA?
Inflammatory myopathies Inflammatory myopathies: the molecular benefits of physical activity are revealed Maxillary and oral disorders should be investigated in inflammatory myopathies Japanese guidelines for the diagnosis and treatment of interstitial lung disease accompanying certain systemic diseases Autoimmune necrotizing myopathy in children, a diagnostic and therapeutic challenge
Duchenne muscular dystrophy Functionally repaired DMD heart cells with Crispr-Cas9 A monoclonal antibody effective against the fibrosis observed in DMD Eteplirsen acts long-term on respiratory function and walking in DMD The STRIDE follow-up registry and a retrospective Swedish study provide new data regarding the effects of ataluren in DMD at over 5 years
Charcot-Marie-Tooth disease Reducing oxidative stress confines the development of symptoms in GDAP1-related CMT in mice German recommendations for the diagnosis of hereditary or acquired neuropathies in pediatrics The combination of two functional scores is useful to establish orthosis indications in CMT
Myasthenia gravis A Swedish study finds that MG treatment leaves unsatisfactory symptomatic state for patients in almost half of cases No increased risk of osteoporotic fracture in myasthenia gravis despite corticosteroid therapy
Facio-scapulo-humeral myopathy WMS 2021: fairly encouraging results of losmapimod in facio-scapulo-humeral myopathy A machine learning module for the diagnosis of FSH
Metabolic diseases Gastrointestinal manifestations of Pompe disease: confirmation of smooth muscle involvement 114DG11: a therapeutic hope for polyglucosans myopathies
Basic research and other disorders MRI signal abnormalities in adults with Brown-Vialetto-Van Laere syndrome ManNAc in GNE myopathy: new positive results Interesting genotype-phenotype correlations in a French cohort of patients with neuromuscular disease Soft chest orthosis improves upper limb function in case of shoulder blade detachment MLIP: a new autosomal recessive gene responsible for rhabdomyolysis Study of a large British series of patients with congenital myotonia confirms the value of functional genetic studies DMOP: a Dutch study specifies the evolutionary profile of the disease Post hoc analysis and case report support dichlorphenamide in muscle channelopathies Description of the largest cohort of patients with a rare form of LGMD CMD linked to LAMA2 deficiency: a pattern of specific muscle damage emerges on MRI
In brief
7th TREAT-NMD International Conference 2022 This conference will take place from June 15th to 17th, 2022 in Vancouver, Canada. Read more
Job opportunities The Institute of Myologie is recruiting two Clinical Research Associate (M/F) and a Paediatrician or Neuroaediatrician (M/F) (in French). 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: Bertrand Fontaine; Emmanuelle Guiraud; Delphine Olivier; J. Andoni Urtizberea; Vincent Varlet. Editorial staff: Anne Berthomier. Also participate: Lawrence Chambers; Hala Alameddine. Do you have any questions? Would you like to share some news? Please contact us. © 2021 - 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.