Myology research highlights
RSS feedThe experience of a French Neuromuscular Disease Reference Centre with patients suffering from collagenopathy
Analysis of the genetic and clinical data from a cohort of 25 patients, children and adults, with defects in the collagen VI (COL6A1-3) genes and followed up at the Marseille Neuromuscular Disease Reference Centre in France showed that : 5 had Ullrich-type muscular dystrophy, 15 had Bethlem myopathy and 5 had an intermediate form; 14 … [Read more]
The serological signature of certain types of myositis could be useful in establishing a pulmonary prognosis
British and Spanish researchers retrospectively analysed the profile of myositis-specific autoantibodies in a group of patients with inflammatory myopathy with associated pneumonitis (ILD-IMM) and in another where the patients had interstitial pneumonitis with autoimmune features (IPAF): 430 patients recruited in the UK and belonging mainly (80%) to the first group were included in the study, … [Read more]
Results of phase II trial of nipocalimab in myasthenia gravis published
Following an initial presentation at the 2021 American Academy of Neurology meeting, the final (and more moderate) results of the Vivacity-MG trial were published in the journal Neurology in January 2024 : 57 of the 68 participants completed 57 days of treatment with placebo or nipocalimab 5, 30 or 60 mg; the incidence of side-effects … [Read more]
Pure distal myopathy involving the TDP-43 protein
A team of researchers and clinicians from Lyon report two unrelated families from the Ain region with late-onset distal myopathy with no signs likely to suggest associated motor neurone damage: A total of eight adult patients were studied, the disease being transmitted in an autosomal dominant fashion, with variable penetrance, The same missense variant of … [Read more]
DMD: altered iron metabolism in cardiomyocytes corrected by deferoxamine or pioglitazone
A Polish team has investigated the mechanism involved in Duchenne cardiomyopathy by studying the transcriptome and proteome of exon 50-deleted cardiomyocytes derived from human iPS cells. She found : a decrease in mitoNEET protein levels ; an increase in labile iron in the cytoplasm and mitochondria; a decrease in ferroportin ; an increase in ferritin … [Read more]
ASPIRO trial: muscle lesions regress less quickly and less completely than in dogs
Muscle biopsies were taken before and after gene therapy in 10 children with myotubular myopathy participating in the ASPIRO trial. At 24 weeks after treatment, organelle localization was greatly improved, with no increase in myofibril size in most cases. On biopsy at 48 weeks post-treatment, the increase in myofibril size became statistically significant. However, the … [Read more]
A Franco-British study of spinal muscular atrophy not linked to chromosome 5q
Clinicians and geneticists from the Filnemus network, including members of the Institute of Myology, and from London pooled data from patients presenting with a picture compatible with spinal muscular atrophy, but where an SMN1 gene anomaly had been formally excluded: 71 patients from 65 families were included in the study, phenotypes were divided between proximal, … [Read more]
Biphosphonates and DMD: a review of the literature confirms the 2018 management recommendations
A review of the literature on the use of biphosphonates found in 19 publications concerning 1,010 children and adults with Duchenne muscular dystrophy (DMD) treated with corticosteroids: a high level of evidence that biphosphonates improve bone density in the areolar bone of the vertebral bodies of these patients; greater improvements in patients treated with intravenous … [Read more]
The relevance and accuracy of functional electrophysiological tests in canalopathies and myotonia
The team at the Tampere Reference Centre for Neuromuscular Diseases (Finland) examined the results of functional electrophysiological tests in 27 patients with canalopathy, myotonic dystrophy type 1 (DM1) or type 2 (DM2) : the most frequent symptoms were muscle weakness, myalgias, cramps and muscle stiffness, the median age at the time of functional electrophysiological testing … [Read more]
A large French series of cases of muscular amylopectinosis
French clinicians and biologists report the clinical, histopathological and genetic data of patients in whom the diagnosis of amylopectinosis (also known as Andersen’s syndrome or type IV glycogenosis) was confirmed by molecular biology in the context of a confirmed and very early muscle deficit: 10 patients from eight families were included in the study, all … [Read more]