Our science & medical news
RSS feedThe 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]
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]
ENTRY-DM: a European network to train a new generation of young DM1 researchers – Interview with Mario Gomes-Pereira
ENTRY-DM is an MSCA* multidisciplinary doctoral network aimed at developing oligonucleotide-based therapies and preparing clinical trials in myotonic dystrophy, through advanced doctoral training. It brings together 11 European laboratories and 18 international partners with expertise in disciplines as varied as medicinal chemistry, genetics, multi-omics, bioengineering and neuropsychology. Interview with the project coordinator, Mario Gomes-Pereira, a … [Read more]
The first digital functional assessment tool validated in DMD
The international consortium of researchers, including experts from the Institute of Myology, which developed SV95C, a digital parameter for the functional evaluation of Duchenne muscular dystrophy (DMD), has announced its adoption by the European Medicines Agency (EMA) as a primary endpoint in therapeutic trials: this assessment is based on the analysis of information transmitted by … [Read more]
Dermatomyositis and cancer are significantly associated
A French multicentre retrospective study of 73 patients with cancer-associated dermatomyositis, followed for an average of 3.92 years, involving experts from the Institute of Myology, showed that : 82.2% had classic dermatomyositis, 8.2% had amyopathic dermatomyositis and 9.6% had hypomyopathic dermatomyositis; 76.7% had been diagnosed with cancer in the year preceding or following the onset … [Read more]
Becker myopathy: a more specific mouse model
A new rat model of Becker muscular dystrophy, with a deletion of exons 45-47 of the Dmd gene, has been developed by a French team including researchers from the Institute’s Center for Research in Myology : This model rat shows moderate impairment of locomotion and diaphragm, associated with progressive cardiomyopathy. Histology shows disorganisation of the … [Read more]
Recommendations for cardiac monitoring of adults with canalopathy on mexiletine
Cardiac monitoring is recommended in adults with muscular canalopathy treated for myotonia with mexiletine (Namuscla®), due to a possible pro-arrhythmic effect of the product. To help prescribers, a number of experts – cardiologists and neurologists from various French reference centres, and an Italian pharmacologist – have issued recommendations concerning cardiac monitoring of adults being treated, … [Read more]
Dimitrios Kourtzas awarded Master Prize at JSFM 2024 – Interview
Dimitrios Kourtzas has been awarded the Master’s Prize for his research project on collagen VI (COLVI)-related disorders at the JSFM 2024. He just started a PhD under the supervision of Valérie Allamand, in the ‘Genetics and pathophysiology of neuromuscular diseases linked to the extracellular matrix and nucleus’ team led by Gisèle Bonne, at the … [Read more]
DMD: French recommandations on corticoids
On the basis of a review of the literature, the Filnemus neuromuscular rare diseases health network and the French Paediatric Neurology Society (SFNP), including clinicians from I-Motion, have published recommendations to harmonise practices for prescribing corticosteroid therapy and monitoring associated adverse effects in children with Duchenne muscular dystrophy. With regard to the long-term use of … [Read more]
Characterisation of distal digenic myopathy linked to TIA1 and SQSTM1
The description of four new French cases of Welander-type distal myopathy and 20 cases from a review of the literature confirms the digenic nature of the disease: the p.Asn357Ser mutation in the TIA1 gene is associated with four different SQSTM1 variants. The disease is most often asymmetric and predominantly affects the foot lifters and finger … [Read more]
