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A unique microscopy technology has revealed previously unknown mechanisms of endocytosis in the axon – Interview with Stéphane Vassilopoulos

Satish Babu Moparthi, post-doctoral fellow, and Stéphane Vassilopoulos, co-director of the ‘Muscle cell organization and therapy of dominant centronuclear myopathy‘ team at the Research Centre of the Institute of Myology, have just published an article in the journal Science* in collaboration with Christophe Leterrier’s team (Aix-Marseille University, CNRS). Using a combination of two cutting-edge technologies, they … [Read more]

The Fondation Leducq has recently awarded funding to the PRIORITY international network of excellence, coordinated by Dr Gisèle Bonne.

The PRIORITY international network of excellence has just been awarded an $8,000,000 grant from the Fondation Leducq. PRIORITY is a research consortium of 8 partners, 4 from Europe and 4 from North America*, which will work on LMNA gene-related dilated cardiomyopathy (LMNA-DCM). PRIORITY will be coordinated by Dr Gisèle Bonne (Institut de Myologie, France) and … [Read more]

The relationship between muscle strength and function in the upper limb now better established in DMD and SMA

Researchers coordinated by the Institute of Myology have studied the threshold of muscle strength loss beyond which motor function is compromised in the hand: 91 patients with Duchenne muscular dystrophy (DMD) and 77 with SMN1-related proximal spinal muscular atrophy (SMA) took part in the study, hand grip strength and thumb-index grip strength were measured using … [Read more]

A comparison focusing on thymic histology between different cohorts of myasthenia gravis

Researchers at the Institute of Myology used a French database to compare early-onset (217) and classic forms of myasthenia (721): the files from this database were analysed clinically, immunologically and histologically (data from examination of the thymus when it had been removed), juvenile forms of myasthenia were subdivided into two groups according to age of … [Read more]

Does thymectomy have harmful long-term consequences?

A retrospective study recently published in the New England Journal of Medicine has raised the question of an increased long-term risk, in terms of cancer, autoimmune disease and mortality, after thymectomy as part of cardiothoracic surgery. In Neurology, international specialists in myasthenia (including a researcher from the Institute of Myology) and cardiothoracic surgery review what … [Read more]

DM1: Setting up a cognitive remediation group – Interview with Sabrina Sayah and Thibaud Guillopé

Sabrina Sayah and Thibaud Guillopé are clinical psychologists specialising in neuropsychology in the Psychology and Neuropsychology team at the Institute of Myology. They presented their clinical work at the Neuroscience DMU Day held at the ICM on 22 June. Their poster having been selected, T. Guillopé was able to give an oral presentation of the … [Read more]

Appropriate 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 Frédérique Truffaut

Frédérique 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]