Blog Archives
A model to predict the distance covered during the 6MWT in Pompe disease
Researchers from the Laboratory of Physiology and Neuromuscular Evaluation at the Institute of Myology have developed and validated predictive models for the performance of the 6-minute walk test (6MWT) in Pompe disease, using simpler, less demanding tests. In fact, the 6MWT, which is commonly used to assess functional capacity in neuromuscular diseases, can prove difficult … [Read more]
ERN EURO-NMD webinar, 28 May: Dr. Nicol Voermans & Ria de Haas, PhD (the Netherlands)
FSHD webinar series – Episode 4: “Clinical Trial Readiness” Wednesday 28 May 2025 – 16:00 – 17:00 Paris time Dr. Nicol Voermans & Ria de Haas, PhD (Radboud University Nijmegen Medical Centre, the Netherlands) > + infos Organized by EURO-NMD in collaboration with ERN-RND.
The Institute’s teams at the 5th International Meeting on Laminopathies from 21 to 23 May in Paris
The 5th International Meeting on Laminopathies, being held in Paris from 21 to 23 May, brings together international experts in nuclear envelope proteins and associated diseases, including muscular dystrophies, cardiomyopathies, accelerated ageing syndromes such as Hutchinson-Gilford progeria and metabolic disorders. This meeting, which gathers together cardiologists, neurologists, endocrinologists, paediatricians, geneticists, researchers and patients, aims to … [Read more]
A natural history study of upper limb function in SMA type II
The Spanish network responsible for monitoring patients with SMN1-related proximal spinal muscular atrophy (SMA) retrospectively studied the evolution of upper limb function in SMA type II : 149 patients with type II SMA took part in the study, which consisted of measuring the Revised Upper Limb Module (RULM) functional score at regular intervals. The participants … [Read more]
M&M’s – Muscle Monday Seminar – 19 May – Aurélie Goyenvalle (France)
Antisense approaches for the treatment of Duchenne muscular dystrophy and recent advances to address DMD brain comorbidities Monday 19 May 2025 – 12h00-13h00 Aurélie Goyenvalle, PhD (Laboratory Biotherapies for neuromuscular diseases at the University of Versailles, France) More information on the presentation and the speaker On prior registration for people outside the Institute of Myology: … [Read more]
ERN EURO-NMD webinar, 22 May: Prof. Tracey Willis (UK)
FSHD webinar series – Episode 3: “Pediatric FSHD” Thursday 22 May 2025 – 16:00 – 17:00 Paris time Prof. Tracey Willis (Robert Jones and Agnes Hunt Orthopaedic and District Hospital NHS Trust, UK) > + infos Organized by EURO-NMD in collaboration with ERN-RND.
Researchers from the Institute at the 15th MGFA International Conference
Institute researchers at the 15th International MGFA ConferenceInstitute experts presented their work at the 15th International MGFA Conference on myasthenia gravis and associated disorders, held from 13 May to 15 May 2025 in The Hague, Netherlands. Organised by the Myasthenia Gravis Foundation of America (MGFA), this conference brings together neuromuscular researchers and healthcare professionals to … [Read more]
Results of a European survey on the management of bone problems in neuromuscular diseases
The partial or total immobility caused by many neuromuscular diseases, whether or not associated with the deleterious effect of corticosteroid therapy, is often the cause of bone problems (osteoporosis, osteopenia, fractures, compression, etc.): The Euro-NMD neuromuscular reference network (ERN) has conducted a double survey on these complications, which are frequently encountered over the long term, … [Read more]
A new murine model of myasthenia gravis that is more effective and better suited to animal welfare
The Myasthenia gravis, etiology, pathophysiology & therapeutical approaches team, led by Rozen Le Panse at the Institute of Myology’s Myology Research Centre, has developed a new experimental murine model of myasthenia gravis (N-EAMG) that is at least as effective as the classic experimental model (C-EAMG) and offers several advantages. N-EAMG: is better suited to animal … [Read more]
Identification of effective, non-invasive MRI markers in LGMD R9
French researchers from the Institute of Myology, Genethon and Atamyo, in collaboration with Dutch researchers, have studied several quantitative MRI parameters in order to identify sensitive and non-invasive biomarkers for assessing the progression of LGMD-R9 and evaluating the efficacy of new therapies. Carried out in 18 persons with LGMD-R9 and 13 controls, this study shows … [Read more]
