Blog Archives
Identification of CaVβ1 isoforms required in the neuromuscular junction development and maintenance
In skeletal muscle, the voltage-gated calcium channel (VGCC) CaV1.1 enables coupling between the electrical activity of motor neurons and muscle contraction, following stimulation of acetylcholine receptors at the neuromuscular junction (NMJ). The activity and localisation of CaV1.1 are regulated by the CaVβ subunit. In addition to this function, CaVβ plays a role in modulating gene … [Read more]
Conditioned mesenchymal cells to alleviate Myasthenia Gravis
Mesenchymal stromal cells (MSCs) are promising tools for the treatment of autoimmune and inflammatory diseases. These multipotent stromal cells possess innate immunomodulatory properties that can be significantly enhanced by co-culture with peripheral blood mononuclear cells (PBMCs). Researchers at the Institute’s Center of Research in Myology and their colleagues studied the mechanisms underlying the conditioning of … [Read more]
UK recommendations to improve orthopedic care in DMD
A group of British experts has formulated recommendations, approved by the British Society for Children’s Orthopaedic Surgery, aimed at harmonizing and improving orthopedic care for children and young adults with Duchenne muscular dystrophy (DMD). Non-urgent care should be provided in specialized centers, but fractures can be treated by local trauma units if sufficient medical and … [Read more]
A pharmacovigilance study on the use of efgartigimod in myasthenia gravis in the United States
Efgartigimod is one of the new molecules used in refractory forms of myasthenia gravis. Chinese researchers have reviewed the side effects recorded in the Food and Drug Administration (FDA) pharmacovigilance database, which is freely accessible in the United States: the study covered the period from the first quarter of 2022 to the fourth quarter of … [Read more]
Encouraging results from the ventilatory weaning protocol during myasthenic crises
French clinicians involved in weaning myasthenic patients undergoing decompensation (myasthenic crisis) report the results of the WEAN Safe protocol applied to a single-center cohort (Paris, Salpêtrière): of the 698 admissions to intensive care for this reason, only the records of 81 patients covering the period 2008-2023 were selected for the study, the median age of … [Read more]
Myotonic dystrophy and increased cancer risk: the American experience
American epidemiologists and statisticians sought to better understand the risk of developing cancer in a population with myotonic dystrophy (MD), primarily Steinert’s disease (type 1 MD or MD1). Medical data from 1,229 individuals in the North American MD STARnet registry were analyzed. During the 12-year observation period, cancer was diagnosed in 52 individuals. People with … [Read more]
Research into biomarkers to differentiate Becker and Duchenne muscular dystrophies
Swedish and Dutch researchers used mass spectrometry to try to identify proteomic profiles that would distinguish between the two most common types of dystrophinopathy, namely Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD): 34 patients with BMD and 19 with DMD were included in the study, which lasted three years and consisted of collecting … [Read more]
Reports of muscle lipidosis associated with sertraline and ranozaline
American clinicians report their experience with two drugs, sertraline and ranozaline, which have caused cases of lipidosis-type myopathy: 10 cases of muscular lipidosis were recorded in the context of exposure to one or other of these drugs, the phenotype encountered was predominantly (8/10) that of MADD (acyl-CoA dehydrogenase deficiency), in 3 cases of MADD, an … [Read more]
The importance of measuring autoantibodies directed against rituximab in myasthenia gravis
Neurologists in Nice report on their experience in the long-term treatment of autoimmune myasthenia gravis, particularly in the use of a monoclonal anti-CD20 antibody (rituximab or RTX): data from 101 patients with myasthenia gravis treated with RTX as a first- or second-line therapy were included in a retrospective study. Among them, 34 developed autoantibodies directed … [Read more]
First descriptions of cases of congenital myopathy linked to the dystonin gene
An international consortium of researchers including experts from the Institute of Myology reports the identification of a new form of early-onset congenital myopathy linked to the DST gene encoding dystonin: 19 patients from 14 unrelated families were identified following high-throughput sequencing studies in a context of diagnostic uncertainty. The clinical phenotype was quite severe from … [Read more]
