Myology research highlights
RSS feedMuscle regeneration affects AAV vector transcription
As part of the research on the molecular mechanisms that impact AAV vector expression in pathological muscle, the group of Sofia Benkhelifa-Ziyyat (research project leader/AIM) and Stéphanie Lorain (currently project leader/AFM) from the Institute’s Myology Centre for Research evaluated the impact of the necrosis-regeneration process on AAV vector expression efficiency in Duchenne muscle. This study … [Read more]
A major 13-year study of preconception counselling and prenatal diagnosis in FSH
A retrospective study on the requests for preconception consultation or prenatal diagnosis made between January 2008 and December 2020 to the Genetic Counselling Service associated with the Italian National Registry of Facioscapulohumeral Myopathy (FSH) showed that : 60 couples requested a preconception consultation for FSH, which highlighted at least one of the future parents with … [Read more]
Initial 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]
