Blog Archives
SMA therapies do not prevent the development of scoliosis
A German team conducted a retrospective cross-sectional study of 75 patients to assess the course of neuromuscular scoliosis associated with SMA. a total of 75 patients were included in the analysis; 36.5% had type I SMA, 40.5% had type II SMA and 23% had type III SMA. all were treated with Spinraza®, Zolgensma® and Evrysdi® … [Read more]
The difficulty of interpreting SMCHD1 gene variants in FSHD
Clinicians and geneticists from the French network dedicated to facioscapulohumeral muscular dystrophy (FSHD), which includes clinicians from the Institut de Myologie, have provided an update on a rarer form of FSHD type 2 linked to the SMCHD1 gene: the sequencing data and methylation studies of 54 FSHD1-negative patients were collected and analysed, all patients had … [Read more]
SMA clinical trial results: what’s new?
As several clinical trials continue in SMN1-related proximal spinal muscular atrophy, new results have been shared. DEVOTE trial, testing higher doses (50/28 mg) of Spinraza than currently available (12 mg): clinical benefits of higher doses in patients already treated or treatment naïve. Motor neuron degeneration, which is reflected in the reduction of neurofilaments in plasma, … [Read more]
A more effective molecular biology tool for detecting SMA
The American team at the Broad Institute in Boston (USA) has developed the SMA Finder, a new algorithm designed to identify SMA more easily from data generated by high-throughput sequencing (NGS): raw sequencing data from gene panels, exomes and whole genomes were collected by the Broad Institute in collaboration with the Estonian Department of Genetics … [Read more]
Retrospective study of the Institute of Myology’s muscle biopsies in infants
A retrospective study of 535 muscle biopsies taken over 52 years from infants aged between 0 and 6 months and collected at the Institut de Myologie showed that : 82% of them showed abnormalities specific to a neuromuscular disease; between 1970 and 1999, 11.6% of biopsies (out of 248) were normal, compared with 4% (out … [Read more]
Genotype-phenotype correlations in Pompe disease
A review of the literature revealed 115 cases of infantile (42) or late-onset (73) Pompe disease. Genetic analysis of associated GAA variants showed that : the presence of at least one splice variant was found in 96.6% of cases in late-onset forms ; in 71.4% of cases in infantile forms, there was no splice variant; … [Read more]
A meta-analysis of the efficacy and safety of vamorolone in DMD
German clinicians have compiled data from the literature in order to assess the efficacy and safety of vamorolone, a new-generation synthetic corticosteroid recently authorised in Europe and the United States to treat Duchenne muscular dystrophy (DMD): data from 210 DMD patients treated with vamorolone at a dose of 2 mg/kg/day or 6 mg/kg/day were collected … [Read more]
ERN EURO-NMD webinar, 20 Feb.: Prof. Peter Van den Bergh (Belgium)
Electrodiagnostic patterns in immune-mediated neuropathies Thursday 20 February 2025 – 16:00 – 17:00 Paris time Prof. Peter Van den Bergh (Cliniques universitaires Saint-Luc, Brussels, Belgium) > + infos Organized by EURO-NMD in collaboration with ERN-RND.
A new natural history of muscle-expressing laminopathies
Italian researchers studied the evolution of clinical and biological parameters in a cohort of patients diagnosed and followed for myopathy related to pathogenic variants of the LMNA gene: 26 patients took part in this study, which lasted two years. the usual follow-up parameters were used as the basis for the analysis (NSAA score, timed tests, … [Read more]
Myotubular myopathy: are cardiac compensatory mechanisms at work?
The team at the Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC) in Strasbourg has explored the non-neuromuscular effects of myotubular myopathy in the Mtm1-/y mouse model: no functional or morphological abnormalities were found in the liver; alongside the disturbances in muscle development, inflammation, cell adhesion and oxidative phosphorylation found in skeletal muscle, … [Read more]
