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RSS feedInternational guidelines for VCP myopathies
Mutations in the VCP gene encoding valosin-containing protein cause complex neurodegenerative clinical pictures almost invariably associated with myopathy. An international consortium of experts, two of whom belong to the Institut de Myologie in Paris, has drawn up recommendations for this myopathy, which remains rare: A preliminary analysis of the literature was carried out and distributed … [Read more]
Description of the first Franco-Swiss cohort in SORD-related peripheral neuropathy
Defects in the SORD gene lead to hereditary distal motor neuropathy (dHMN type) or distal sensory-motor neuropathy (Charco-Marie-Tooth type). Discovered in 2020, there are still few cohorts of patients described in the literature. Experts from the FILNEMUS network, in association with their Swiss colleagues, published a cohort of 30 patients in March 2023: These patients … [Read more]
Introduction to research in myology at the Institute for SU medical students – Interview with Guillaume Bassez
The Institute welcomed its first class of medical students for an introduction to research in the field of myology in April 2023. This week of training, which is part of the medical curriculum at Sorbonne University, was organised by Guillaume Bassez, neurologist and head of a research group in the Repeat Expansions & Myotonic Dystrophy … [Read more]
A look back at the 4th International Meeting on Laminopathies
The 4th International Meeting on Laminopathies, held in Madrid from 9 to 12 May 2023, brought together researchers and physicians interested in these rare diseases, representatives of the pharmaceutical industry, as well as laminopathy patients and patient organisations from around the world. The meeting welcomed 166 participants from 24 countries. By providing a forum for … [Read more]
Anti-SAE autoantibodies in dermatomyositis
Dermatomyositis (DM) is a rare autoimmune family of diseases in which the muscles and skin are affected by inflammation. They can occur in childhood or in adults. The autoimmune aspect of these diseases is associated in 60% of patients with the presence of DM-specific antibodies, among which the anti-SAE antibody is rare. In a retrospective … [Read more]
Role of caveolae in T-tubule formation in the muscle cell – Interview with Eline Lemerle and Stéphane Vassilopoulos
Eline Lemerle completed her thesis* under the supervision of Stéphane Vassilopoulos, in Marc Bitoun’s team (Muscle Organization & Therapy of Dominant Centronuclear Myopathy) at the Institute’s Myology Centre for Research. Her work on the formation of T-tubules in the muscle cell and more specifically on the role of caveolae, has just been published in the … [Read more]
Analysis of the largest cohort of patients with anoctaminopathy
An international multicentre study reports the results of the analysis of the characteristics of 234 patients with ANO5-related myopathy (limb-girdle muscular dystrophy type R12 or LGMD R12, distal muscular dystrophy type 3 or MMD3, ANO5-related pseudometabolic myopathy and asymptomatic hyperCKemia). The data collected included the following: all subgroups, except for pseudometabolic myopathy, show a male … [Read more]
Ultrasound useful to assess respiratory effort in MFM patients: a case study
Myofibrillar myopathies (MFMs) are a small but fairly heterogeneous group of neuromuscular diseases characterised, at the histopathological level, by the accumulation of protein products which cause a disorganisation of the internal architecture of the muscle fibre network. Their clinical manifestations are varied, with distal muscle involvement and potentially lethal cardiac abnormalities being the most common. … [Read more]
Genetic analysis strategy in hereditary neuropathies
French clinicians, aiming to guide the genetic diagnosis of patients with hereditary peripheral neuropathy, have outlined in a review the clinical and neurophysiological aspects as well as the potential treatments of these diseases. Indeed, hereditary neuropathies are a heterogeneous group of disorders affecting the motor, sensory and/or autonomic nerves, the diagnosis of which can be … [Read more]
Treated myasthenia can still cause significant difficulties in everyday life
The international MyRealWorldMG study collects real-life data from adults with autoimmune myasthenia undergoing treatment. Each month, they answer different patient-reported outcome measures (PROM), specific or not to myasthenia: EQ-5D-5L, MG-ADL, MG-QoL-15r… Preliminary data from the first 834 participants show that: the results of the different PROMs are consistent and show a significant impact of the … [Read more]
