Blog Archives
Osteonecrosis: the prerogative of juvenile dermatomyositis with anti-MDA5 antibodies?
The records of 71 young people with juvenile dermatomyositis followed for at least two years by the Paris Reference Center for Rare Pediatric Rheumatism and Autoimmune Systemic Diseases (RAISE) were retrospectively analyzed: five had hip, knee, and/or ankle pain associated with multiple foci of osteonecrosis in four and unilateral femoral head osteonecrosis in the fifth … [Read more]
New results from the SUNFISH and JEWELFISH clinical trials with risdiplam in SMA
In two publications released in February 2023, the results of two clinical trials evaluating risdiplam (Evrysdi) in SMA type II and III (SUNFISH trial) and in participants previously treated with nusinersen (Spinraza), onasemnogene abeparvovec (Zolgensma), or olesoxime (JEWELFISH trial) show: for the SUNFISH trial: gains in motor function achieved after 12 months of treatment were … [Read more]
ERN EURO-NMD webinar, Apr. 6th – Prof. Werner Stenzel (Germany)
Inflammatory Myopathies 6th April 2023 – 4pmParis Time Prof. Werner Stenzel (Charité – Universitätsmedizin Berlin, Germany) Registration: https://zoom.us/webinar/register/WN_sdHfvA2tSei3Nx_MvL-_qQ Organised by EURO-NMD in collaboration with ERN-RND
Daratumumab, an anti-CD38 effective in two cases of severe refractory myositis
The first case concerns a 27-year-old man in Canada with autoimmune necrotizing myopathy with anti-PRS: after 8 months of conventional treatment (glucocorticoids, methotraxate, IV immunoglobulins, rituximab) with no effect and 6 months in intensive care unit, the initiation of daratumumab (16mg/kg/week) led to a clear improvement in four weeks, with discharge from the intensive care … [Read more]
Results of a longitudinal study on the effectiveness of corticosteroid therapy in the non-ambulatory phase of DMD
A longitudinal study published in December 2022 compared disease progression after the loss of walking in 86 boys with DMD with or without steroid therapy (prednisone or deflazacort). Participants aged 3-18 years had lost their ability to walk either before or during the study. Muscle, lung and heart function were assessed every six months for … [Read more]
The advantages of quantitative magnetic resonance imaging in Becker muscular dystrophy
The natural history of Becker’s muscular dystrophy (BMD) is imperfectly known. In order to assess its evolution and with a view to therapeutic trials, researchers from the Institute of Myology (Paris) studied a cohort of BMD patients using quantitative MRI: 28 BMD patients and 19 healthy volunteers were included in the study; the extracellular volume … [Read more]
Pyridostigmine tends to improve subjective fatigability, but shows no significant effect on muscle strength
The SPACE clinical trial took place between 2016 and 2017 in the Netherlands. This single-centre, phase II, cross-over trial evaluated an 8-week course of pyridostigmine versus placebo in 35 people with SMA types II to IV. The results, published in December 2022, show: no statistically significant difference in Nine-hole peg test (NHPT) and motor function … [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]
