Our science & medical news
RSS feedAnalysis 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]
Researchers from the Institute’s NMR laboratory at the SFRMBM 2023 conference
The 6th conference of the French Society of Magnetic Resonance in Biology and Medicine (SFRMBM) was held in Paris from 27 to 29 March 2023. Its objective: to present the latest methodological advances and innovative applications in magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS). The communications focused on developments in physics and technology … [Read more]
Cross-sectional study of neuromuscular fatigue in autoimmune myasthenia – Interview with Simone Birnbaum
Simone Birnbaum, a researcher at the Neuromuscular Physiology and Evaluation Laboratory directed by Jean-Yves Hogrel (NIC, Institute of Myology) has just published an article assessing neuromuscular fatigue in persons with Myasthenia gravis in the journal Clinical Neurophysiology. Interview with Simone Birnbaum. What was the aim of the study? Myasthenia gravis (MG) is a rare disease characterized by … [Read more]
A new pathophysiological mechanism to explain asymmetry in mitochondrial myopathies
Mitochondrial diseases are a heterogeneous group of disorders caused by alterations in mitochondrial DNA (missense mutations, sporadic large-scale deletions or mutations in nuclear maintenance genes). In these rare and complex diseases, symptoms can vary from person to person and between different tissues in a individual. More than 350 genes have been identified. A team of … [Read more]
Fiorella Grandi, winner of the prestigious Marie Sklodowska-Curie 2022 postdoctoral fellowship – Interview with F. Grandi and P. Smeriglio
Fiorella Grandi started a postdoctoral fellowship in October 2022 in the Epigenetics and biotherapies for motor neuron disorders (ALS & SMA) group led by Piera Smeriglio. She is a laureate of the MSCA Postdoctoral Fellowships 2022 call (Marie Skłodowska-Curie Actions – Horizon Europe). Her project* focuses on the epigenetic mechanisms** that influence the efficacy of … [Read more]
Quantitative MRI to assess the evolution of muscle condition
Clinical trials related to dystrophinopathies are increasingly using quantitative MRI to assess the evolution of muscle status in patients with these neuromuscular diseases. In this prospective study, researchers from the NMR laboratory (NIC, Institute of Myology) and a clinician (Reference Centre for MNM Paris-Est, Institute of Myology) aimed to establish the sensitivity of the quantification … [Read more]
A new clinical trial on DM1 at the Institute of Myology
The double-blind, placebo-controlled phase I/II ACHIEVE trial is evaluating DYNE-101. This drug candidate for Steinert’s disease is being developed by the company Dyne Therapeutics. It is an antisense oligonucleotide coupled to an antibody fragment targeting the hTfR1 receptor (present in large quantities on the surface of muscle cells) administered by intravenous infusion. The Institute of … [Read more]
