Blog Archives

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]

Risdiplam in SMA: feedback from adults in France

Practitioners at the Neuromuscular Reference Centre at the Henri-Mondor University Hospital (Créteil) report their real-life experience of treating six adults with SMA: four with type II SMA and two with type III SMA participated in this observational study, two had initially received intrathecal nusinersen and were then switched to risdiplam, the observation period varied between … [Read more]

French experience with Zolgensma® in type I SMA

Between June 2019 and June 2022, 95 children with treatment-naive type I SMA were identified in one of the 23 neuromuscular disease centres of reference. A study of ‘real-life’ data was carried out by a committee of French experts on 29 of these children, who were treated exclusively with Zolgensma®, with follow-up of at least … [Read more]

Use of psychostimulants to treat daytime hypersomnolence in myotonic dystrophies

A Cochrane review of clinical trials evaluating psychostimulant drugs in myotonic dystrophies was published in November 2024. Six clinical trials were selected, involving 136 participants. According to patient feedback, these drugs may reduce daytime sleepiness, but do not improve quality of life. There were discrepancies between the various trials, making the conclusions uncertain. In addition, … [Read more]

A natural history of FSHD established after five years of observation

Dutch researchers have designed a follow-up protocol for patients suffering from facioscapulohumeral muscular dystrophy (FSHD) in order to gain a better understanding of the natural history of this disease: 154 symptomatic patients confirmed by molecular biology were included in the study, the median age of the cohort was 51 years, a battery of tests and … [Read more]

ERN EURO-NMD, 9 Jan.: Dr. Teresinha Evangelista (France)

The role of biopsy in Autophagic Myopathies Thursday 09 January 2025 – 16:00 – 17:00 Paris time Dr. Teresinha Evangelista (Institute of Myology & Pitié Salpêtrière Hospital – AP-HP, Paris, France) > + infos   Organized by EURO-NMD in collaboration with ERN-RND.