Myology research highlights
RSS feedInitial findings from the European registry for Lambert-Eaton syndrome
Lambert-Eaton syndrome is an ultra-rare presynaptic myasthenic syndrome of autoimmune origin. A European registry has been established with the support of the pharmaceutical industry and has identified 96 patients followed in 30 clinical centres: three-quarters of them were receiving specific treatment in the form of 3-4-DAP (3-4 didydro-aminopyridine) or one of its derivatives, 3-4 DAPP, … [Read more]
A setback in the use of monoclonal antibodies in FOP
Fibrodysplasia ossificans progessiva (FOP) is an ultra-rare disease caused by a mutation, almost always identical, in the ACVR1 gene. This gene encodes a type I bone morphogenetic protein (BMP) receptor. The clinical picture includes outbreaks of heterotopic ossification in the muscles, leading to true ankylosis. Among the many therapeutic avenues considered, the specific blocking of … [Read more]
An unexpected side effect of SMA gene therapy
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 guidelines for heart rhythm disorders in NMD
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]
The responsibility of the HNRNPA2B1 gene confirmed in certain neuromuscular phenotypes
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]
A comparative study of muscle MRI in autoimmune myopathies
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]
A new biomarker for fibrosis in DMD
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]
Thrombocytopenia and GNE myopathy: a not so fortuitous association
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]
How reliable are the new myositis-specific antibody kits?
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 experts develop gene panel to diagnose CMT, HSAN and dHMN neuropathies
Published in February 2022, guidelines for the genetic diagnosis of Charcot-Marie-Tooth disease and hereditary distal motor (dHMN) and sensory (HSAN) neuropathies were developed by the Diagnostic tools – molecular genetics subcommittee of the French Rare Health Care for Neuromuscular Diseases Network (FILNEMUS). They list : 81 genes involved in CMT (included 26 only suspected for the … [Read more]
