Myology research highlights
RSS feedA 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]
Interferons as a first line in the pathophysiology of dermatomyositis
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]
Presymptomatic treatment of SMA with four or more SMN2 copies?
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]
An experimental neuropsychological test for DMD
Based on previous work with mdx mice, the model animal for Duchenne muscular dystrophy (DMD), British researchers have developed a test for humans based on the startle response to several stimuli: 11 children aged between 7 and 12 years with DMD and 9 healthy volunteers participated in the validation study, The test included two types … [Read more]
A very late-onset form of SMA-LED
Spinal muscular atrophy with lower extremity dominance (SMA-LED) is an ultra-rare distal spinal muscular atrophy initially described in children. Two distinct genes, DYNC1H1 and BICD2, cause SMA-LED1 and SMA-LED2 respectively. Australian clinicians report a highly original case due to the very late onset of the disease: the patient had been suffering from a waddling gait … [Read more]
Two Malian contributions to a better understanding of CMT in Africa
Africa is, relatively speaking, a kind of terra incognita for neuromuscular diseases in general and Charcot-Marie-Tooth disease (CMT) in particular. Researchers from Mali have recently published a review of the literature on the prevalence of the different forms of the disease on that continent, and another article focusing on CMTX alone. In the latter, transmission … [Read more]
