Duchenne muscular dystrophy
RSS feedNewborn screening for DMD as seen by various stakeholders
Australian researchers wanted to know how newborn screening (NBS) for Duchenne muscular dystrophy (DMD) would be perceived at a time when innovative, supposedly effective therapies are being announced: 50 caregivers and 26 healthcare professionals took part in a survey, the vast majority (80%) said they were in favor of screening, even if few knew the … [Read more]
Prevalence of epilepsy in dystrophinopathies revised downwards
According to a retrospective study carried out in Spain on data from 416 patients with Duchenne muscular dystrophy, Becker muscular dystrophy or asymptomatic hyperCKemia : the prevalence of epilepsy was 1.4%, much lower than estimated by various previous studies (3.1% to 7.9%), but slightly higher than in the general population (0.5 to 1% in children … [Read more]
Virtual reality tele-rehabilitation is feasible and effective in DMD and BMD
Spanish researchers have investigated the usefulness of virtual reality in the remote rehabilitation of 12 walking children aged between 5 and 15 suffering from Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD). Although they had already undergone a conventional rehabilitation programme, the results of new training via a virtual platform twice a week (30 … [Read more]
Overview of neuromuscular diseases
After a brief reminder of the structure of the motor unit and the various modes of inheritance, this document provides short descriptions of the neuromuscular diseases that are part of our scope at AFM-Téléthon, as well as how to manage and treat them. For each group of diseases, as well as in the motor unit … [Read more]
Vamorolone confirms its efficacy over one year in DMD without limiting growth
In 2022 , the first results of a 6-month double-blind trial of vamorolone (Agamree®) versus placebo or prednisone were published. This synthetic steroid has been approved in Europe since December 2023 for the treatment of Duchenne muscular dystrophy from the age of 4. New data from this trial, at one year, have just been published. … [Read more]
DMD: Commercial go-ahead for givinostat (Duvyzat™) in the USA
Givinostat, a drug developed by Italfarmaco for Duchenne and Becker muscular dystrophies, is a histone deacetylase (HDAC) inhibitor. On 21 March 2024, it was granted marketing authorisation in the United States by the FDA on the basis of the results of the EPIDYS phase III double-blind, placebo-controlled trial, which took place in France. The EPIDYS … [Read more]
Failure of the ryanodine receptor causes myocardial senescence and fibrosis in DMD
Researchers in the south of France have studied the determinants of the degeneration and fibrosis observed in cardiomyopathy linked to Duchenne muscular dystrophy (DMD) in animals and humans: human pluripotent stem cells from DMD patients were first transformed into cardiomyocytes, myocardial tissue from DMD model dogs (GRMD) was also analysed, dysfunction of the type 2 … [Read more]
Proteomics to help elucidate pathophysiological interactions and associated multisystem dysfunctions
This perspective article, in which researchers from the Institute of Myology took part, addresses the question of how proteomics, a central systems biology technique deeply rooted in the multi-omics field of modern biological research, can help us to better understand the molecular pathogenesis of complex diseases. Duchenne muscular dystrophy is an example of a monogenetic … [Read more]
Sleep disordered breathing in slowly progressive myopathies: beyond alveolar hypoventilation
A French retrospective study of the records of 149 adults with an average age of 46.5 years and suffering from myotonic dystrophy (45) , myasthenia (20), Pompe disease (9), spinal muscular atrophy (8), facioscapulohumeral myopathy (8), Duchenne myopathy (5), Becker myopathy (1) or another neuromuscular disease (53) explored by respiratory polygraphy, nocturnal transcutaneous capnography and … [Read more]
Microdystrophin-based gene therapies do not prevent utrophin expression in muscle fibers
American researchers have investigated whether the supply of microdystrophin via AAV viruses could modify the physiological overexpression of utrophin observed in Duchenne muscular dystrophy: the double-knockout mouse for utrophin and dystrophin (dKO) served as an experimental model, and received a transgene encoding utrophin, in addition, two distinct types of micro-dystrophin (mDysH3 and mDys5) were injected … [Read more]
