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Institut de la Myologie

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
Inflammatory myopathies
Duchenne muscular dystrophy
Charcot-Marie-Tooth disease
Myasthenia gravis
Facio-scapulo-humeral myopathy
Metabolic diseases
Basic research and other disorders
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

Newsletter subscription
Every two months, the newsletter from the Institute of Myology informed you on developments in myology research, with a summary of the latest scientific, medical, political and community news about neuromuscular diseases. You can read our newsletter by subscribing. You can unsubscribe here.
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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.