Blog Archives
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]
Gene therapy improves cardiomyopathy in Danon disease: results of an initial phase I trial
In the USA, a Phase I trial in Danon’s disease assessed the safety and efficacy of a gene therapy, RP-A501, consisting of intravenous injection of a recombinant serotype 9 adeno-associated virus containing the LAMP2B transgene over a follow-up period of 2 to 4.5 years. It included seven male patients (two aged 11 and 14 and … [Read more]
M&M’s – Muscle Monday Seminar – 27 Jan. – V. Romanello (Italy)
Metabolic Organelles and Their Role in Muscle Mass Maintenance Monday 27 January 2025 – from 12 to 1pm Vanina Romanello (University of Padova, Italy) Hosted by Capucine Trollet More information on the presentation and the speaker On prior registration for people outside the Institute of Myology: medecine-umrs974-myologie@sorbonne-universite.fr M&M’s seminar organised by the Center of … [Read more]
A mutation in HSPB8 leads to axial and proximal myofibrillar myopathy beginning in childhood
While mutations in HSPB8 have been associated with distal hereditary motor neuropathy (dHMN2A) or Charcot-Marie-Tooth disease type 2L, five variants (including four affecting the last exon) of this gene have been linked to a distal form of myopathy beginning in adulthood. A Chinese team reports a first case of an 18-year-old girl with : a … [Read more]
The p.D207V mutation is correlated with a less severe form of GNE myopathy
A retrospective Chinese study of 83 patients with GNE myopathy compared the evolution of 40 carriers of the p.D207V mutation in the gene in question with that of 43 carriers of another mutation: the age of onset of the disease was 27 years for the former versus 24 years for the latter; carriers of the … [Read more]
A new gene, HMGCS1, causes stiff spine syndrome
An international consortium has reported the discovery of a new gene responsible for rigid spine syndrome (RSS): several families with an RSS phenotype but no mutation in the SELENON gene have been studied, either in whole exome or whole genome, bi-allelic variants of the HMGCS1 gene were identified in five patients from four unrelated families, … [Read more]
2025, Empowering muscle, fostering hope and health for all!
Dear patients and families, Dear donors, Dear partners, All the teams and staff at the Institute of Myology wish you happiness, success and health in 2025. We would like to extend our warmest thanks to our generous donors who supported us in 2024, a year filled with a rich variety of events and structuring … [Read more]
Registry data to evaluate respiratory function in FSHD
American researchers have used data from the national MD STARnet registry to study the prevalence and typology of respiratory disorders in patients with facioscapulohumeral muscular dystrophy (FSHD) : all ventilatory parameters of patients in the registry were compiled and analysed over a period from 2008 to 2016, only 20% of the 170 patients identified in … [Read more]
A study of the paraspinalis and thigh muscles before and after spinal surgery
French researchers have studied the imaging of spinal and thigh muscles in patients with SMA before and after corrective spinal surgery: 20 patients with type II SMA participated in the study, two magnetic resonance imaging (MRI) scans of the areas of interest (thighs and spine) were performed before and after corrective spine surgery, five years … [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]
