Blog Archives
Prevalence of GNE myopathy probably underestimated
GNE myopathy (GNEM) remains a particularly rare neuromuscular disease (with an estimated 1 to 9 cases per 1 million), probably because it remains poorly understood and poorly diagnosed: in addition to the international patient register, researchers belonging to the international consortium dedicated to GNEM have used information contained in the literature and in public databases … [Read more]
Lecture: Experimental models in research, advances and ethical issues
REGISTRATION Free access, with prior registration As part of its reflections on Science, ethics and innovation in the field of life, the Institute of Myology is hosting a lecture in French: EXPERIMENTAL MODELS IN RESEARCH: ADVANCES AND ETHICAL ISSUES by Athanassia Sotiropoulos Senior researcher, Head of GIS-FC3R Thursday 25 September 2025, … [Read more]
French experience of spinal surgery in patients with type II SMA
Researchers at the Centre de Référence des maladies neuromusculaires at Trousseau Hospital in Paris have studied data from patients with SMN1 type II-related proximal spinal muscular atrophy operated on for spinal deformity: the study included 25 patients operated on between 2009 and 2022 and divided into two groups, receiving either magnetic growth rods (MCGR type) … [Read more]
DIU in Myology 2025-2026 session: applications are now open
The DIU (Inter-University Diploma, a post-graduate diploma) in Myology, which brings together Sorbonne University and the University of Aix-Marseille-II, aims to provide students with a coherent, structured and modern vision of Myology in its anatomical-physiological foundations, its clinical practice, its complementary explorations and its developments in terms of research. Delivered in French, this course is … [Read more]
Antibodies to MuSK CRD are pathogenic in a mouse model of myasthenia gravis
Myasthenia gravis (MG) is caused by autoantibodies directed mainly against the acetylcholine receptor (AChR) or the MuSK receptor tyrosine kinase located at the neuromuscular junction. Several studies have reported immunoreactivity against the Frizzled cysteine-rich domain (CRD) of MuSK in patients, although the pathogenicity of the antibodies involved remains unknown. A collaboration involving several teams from … [Read more]
Genomic screening at birth: a revolution in the making
Screening for rare diseases at birth using molecular biology is becoming a reality in several countries. The Screen4Care project brought together a group of experts including clinicians, biologists and representatives of both patients and industry: from an initial list of 484 actionable genes, the experts defined six selection criteria largely inspired by the Wilson and … [Read more]
Inhibition of glutamate dehydrogenase as a new therapeutic approach in DMD
European and Chinese researchers have focused on the glutamate pathway as a possible therapeutic target in Duchenne muscular dystrophy (DMD): this molecule plays an important role in the presynaptic endings of neuromuscular junctions, pharmacological inhibition of the enzyme GLUD-1 (glutamate dehydrogenase 1) by compound R162 was analysed in mdx mice, a model of DMD, the … [Read more]
MoCo MRF T1-FF: a new approach to accurately assess upper body muscle tissues using NMR despite respiratory motion
Over the last decade, MR Fingerprinting (MRF) has emerged as an effective paradigm for the rapid and simultaneous quantification of several parameters using MRI. This method was adapted in 2020 by the NMR Laboratory – Spectroscopy Laboratory at the Institute of Myology to measure parameters that are interesting biomarkers in neuromuscular disorders: water T1 as an … [Read more]
Mapping dystrophin expression in the central nervous system
In the context of the cognitive difficulties frequently observed in Duchenne muscular dystrophy (DMD), British researchers have reported work on the presence of dystrophin in the brain, whether adult or simply developing: transcripts of the DMD gene were analysed on samples from a bank of brain tissue at different stages of development, in particular, the … [Read more]
Towards European standardisation of registers and digital tools for myasthenia gravis
European experts met in conclave at the European Neuromuscular Center (ENMC) to define standards for the identification and management of patients with autoimmune myasthenia gravis. The ten patient registries currently in use or under development were analysed and compared, with expectations and objectives varying depending on the point of view (that of clinicians, patient associations, … [Read more]
