Our science & medical news
RSS feedAppropriate use of mexiletine in myotonic dystrophy: a consensus in France
Experts in Steinert disease (DM1) have just produced recommendations concerning the use of mexiletine, a class I anti-arrhythmic agent which may improve the lack of muscle relaxation (myotonia): three neurologists and five cardiologists took part in the working group, data from the literature and experience gained from prescribing this drug off-label were taken into account, … [Read more]
PNDS recommendations on FHSD published internationally
The National Diagnostic and Care Protocol (PNDS) for facioscapulohumeral muscular dystrophy (FSHD) was published in France at the very end of 2021. A recent article published in the Journal of Neurology takes up the main points, focusing in particular on : the diagnosis, which is sometimes complex for clinical and/or genetic reasons, with the publication … [Read more]
A French study on quality of life in non-dystrophic myotonia
The responses of 47 patients with non-dystrophic myotonia to a French questionnaire on the impact of myotonia (French IMPACT survey 2022) showed that : the main symptoms reported were muscular stiffness (98%), muscular pain (83%), falls (70%) and anxiety (77%), which had a severe impact on their daily lives; a large majority of patients (96%) … [Read more]
Characteristics of juvenile myasthenia gravis – Interview with FrĂ©dĂ©rique Truffaut
FrĂ©dĂ©rique Truffaut works in the Myasthenia Gravis: etiology, pathophysiology & therapeutic approach team headed by Rozen Le Panse, within the Institute’s Center of Research in Myology. She has just published an article* in Science Reports on the specific features of juvenile myasthenia compared with myasthenia in adults. In what context did you carry out this … [Read more]
Normal strength is not essential for a functional hand – Interview with ValĂ©rie Decostre
ValĂ©rie Decostre is a physiotherapist and researcher at the Neuromuscular Physiology and Evaluation Laboratory, directed by Jean-Yves Hogrel, at the Neuromuscular Investigation Center of the Institute of Myology. She has just published an article (1) examining the link between strength and muscle function of the hand in Duchenne muscular dystrophy (DMD) and spinal muscular atrophy … [Read more]
Lessons from the long-term follow-up of over 200 adults with congenital myasthenic syndrome in France
A retrospective study based on data from 235 adults collected by a total of 23 French expert centres, during a follow-up period averaging 34 years, shows all the diagnostic difficulties of congenital myasthenic syndromes, with :
- onset in adulthood in 12.3% of cases,
- an average delay before clinical diagnosis of 17.2 years and before genetic diagnosis of 22 years,
- an initial misdiagnosis in 58.7% of patients (congenital myopathy, seronegative autoimmune myasthenia, muscular dystrophy, etc.).
The results of this major study also highlight the importance of having a genetic diagnosis, as this has an influence on the phenotype and course, as well as on the risks of exacerbation, respiratory assistance and loss of walking ability. However, the majority of patients in the French cohort had a favourable long-term prognosis and were neither ventilated nor using a wheelchair at the time of their last consultation.
Inclusion myositis and sirolimus: the final results of the Rapami trial pave the way for a phase III
Sporadic inclusion myositis combines inflammatory processes and degeneration. It is the most common myositis after the age of 50, but also the only one that is refractory to the usual treatments for these autoimmune diseases (corticoids, immunosuppressants). Between 2015 and 2017, with financial support from the AFM-TĂ©lĂ©thon, Prof. Olivier Benveniste’s team conducted a randomised, double-blind, … [Read more]
Effect of sirolimus on muscle in inclusion myositis observed by MRI and spectroscopy – Interview with Harmen Reyngoudt
Harmen Reyngoudt is co-director of the Institute’s NMR imaging and spectroscopy laboratory. He has just published an article* in J Cachexia Sarcopenia Muscle on the effect of sirolimus on muscle assessed by magnetic resonance imaging and spectroscopy. Interview with Harmen Reyngoudt. What is the background to this work? In order to make progress in clinical … [Read more]
The wide variety of clathrin assemblies
Clathrin is a protein that forms triskels that assemble into honeycomb-like networks on the plasma membrane, but also on internal membranes, such as the Golgi apparatus and tubular endosomes. Clathrin assemblies mainly regulate the intracellular trafficking of various protein components. Clathrin also has non-endocytic functions in cell adhesion through interactions with specific integrins. It contributes … [Read more]
A look back at Myology 2024
More than 1,100 myology specialists and nearly 90 speakers came together at Myology 2024, the international scientific congress dedicated to muscle science and medicine. Organised by the AFM-TĂ©lĂ©thon, it was held in Paris from 22 to 25 April 2024. The richness of the Myology 2024 programme testifies to the dynamism of research in myology and the … [Read more]
