Our science & medical news
RSS feedDermatomyositis 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]
Improving diagnosis and prognosis in DM1 and other short repeat expansions diseases with LRS – Interview with Stéphanie Tomé
Stéphanie Tomé is a researcher in the Gourdon group within the Repeat Expansions & Myotonic Dystrophy (REDs) team at the Institute’s Center of Research in Myology. She organised the 2nd Long-Read Sequencing of Expanded Tandem repeats workshop, which was held in Paris from 30 September to 2 October 2024. During this workshop, European and North … [Read more]
Towards a new therapeutic approach to cardiovascular complications in progeria?
Hutchinson-Gilford syndrome (HGPS or progeria) is an autosomal dominant disease caused by a mutation in the LMNA gene, coding for type A lamins, which results in a truncated form of pre-lamin A called progerin. Although asymptomatic at birth, patients develop symptoms such as accelerated ageing, growth retardation and loss of vascular smooth muscle cells (VSMC) … [Read more]
The Institute’s researchers and clinicians attend the 29th WMS Congress
The 29th International Congress of the World Muscle Society (WMS) will be held from 8 to 12 October 2024 in Prague, Czech Republic. The Institute of Myology will be very well represented there, with many scientific and clinical experts present to discuss clinical and fundamental research issues. Denis Furling (CRM) will present an oral communication. … [Read more]
ERDERA, a European partnership ushering in a new era in rare disease research – Interview with Dr Gisèle Bonne
The European Research Alliance for Rare Diseases (ERDERA) is a European partnership that aims to improve the lives of millions of rare disease patients in Europe – and beyond – by advancing research into the prevention, diagnosis and treatment of rare diseases. Supported by the European Union and the Member States as part of Horizon … [Read more]
