Myology research highlights

Side effects of the onasemnogene abeparvovec (OA), the gold standard for gene therapy of infants with SMA, are rare but potentially worrying. Italian clinicians report the case of a child diagnosed at three weeks of age, treated first with nusinersen and then with OA at 5.5 months of age. The patient presented a febrile episode … [Read more]

International specialists in neuromuscular pathology associated with cardiologists have established practical guidelines for rhythm disorders encountered in diseases such as Duchenne and Becker muscular dystrophies, limb-girdle muscular dystrophies (LGMD), nucleopathies (Emery-Dreifuss type), myotonic dystrophies (DM1 or DM2), facioscapulohumeral myopathy and two mitochondrial diseases: the conclusions of the document are the result of an analysis of … [Read more]

HNRNPA2B1 belongs to a group of RNA-binding proteins (RBPs) whose pathological variants cause various disorders, in particular neuromuscular (SLA, distal myopathy or other). An international consortium has found it to be involved in a new form of neuromuscular disease! Ten families (two are French) carried missense variants of the HNRNPA2B1 gene coding for this protein. … [Read more]

Beijing researchers, in addition to clinical and immunological studies, have analysed muscle MRI images in a cohort of 168 Chinese patients with various forms of autoimmune myopathy. The aim was to define specific profiles of thigh muscle involvement. The cohort included 56 patients with dermatomyositis (DM), 61 with necrotizing autoimmune myopathy (NAM), and 51 with … [Read more]

The fibrosis constantly observed in the muscle of patients suffering from Duchenne muscular dystrophy (DMD) remains largely an enigma and is not easily accessible to a specific therapy. Researchers from Créteil, supported by the AFM-Telethon, in collaboration with two researchers from the institute, have identified a biological marker that could substantially advance research in this … [Read more]

GNE myopathy (GNEM) is a late-onset distal myopathy possibly related to sialic acid deficiency. Clinicians in China report the observation of a patient with GNEM in whom a significant decrease in blood platelets was noted: the 29 year old patient had a muscle deficit that had been evolving for three years; the distribution of the … [Read more]

The diagnosis of inflammatory myopathy is most often based on the positivity of autoantibodies in the bloodstream. Clinicians have diagnostic kits for this purpose but their reliability and interpretation thresholds are sometimes questionable. A team of immunologists from Toulouse (France) investigated: the results of 270 patients tested positive for one of the two immunodots developed … [Read more]

French researchers have investigated the biological mechanisms involved in dermatomyositis (DM) by comparing muscle stem cells from patients and healthy subjects. They were particularly interested in the proliferative capacities of these cells and the levels of interferons, the signalling proteins involved in the immune response. The results of this work show that : the stem … [Read more]

Two American teams, one from Boston and the other from New York, have compared their points of view on the thorny question of whether or not to treat so-called “presymptomatic” subjects carrying 4 or more copies of the SMN2 gene. This question is all the more important as newborn screening for SMA is very advanced … [Read more]