Duchenne muscular dystrophy
RSS feedOmega3s appear to improve the FOXP3 regeneration biomarker in DMD
Supplementation with long-chain omega-3 polyunsaturated fatty acids (ω-3 LCPUFA) was tested in a double-blind, placebo-controlled study for six months in 31 boys with Duchenne muscular dystrophy (DMD): eighteen were treated with ω-3 LCPUFA and 13 with placebo; leukocyte mRNA levels of the muscle regeneration marker FOXP3 in ambulant participants were higher than in non-ambulant participants; … [Read more]
An early marker of myocardial damage in DMD
Catalan clinicians have studied the possibility of early detection of myocardial alterations in Duchenne muscular dystrophy (DMD): 23 adolescents with dystrophinopathy (14 DMD, 8 Becker, 1 symptomatic transmitter) were assessed using cardiac magnetic resonance imaging (cardio-MRI) and cardiac functional parameters, their data were compared with a control group of 173 healthy individuals, the analysis was … [Read more]
Expert consensus on the assessment and management of adverse reactions to delandistrogene moxeparvovec (Elevidys®)
Given the rapid and recent development of microdystrophin gene therapy treatments for Duchenne muscular dystrophy (DMD), there is little data on the side effects of these treatments. The Delphi method was used to develop a consensus on the assessment and management of side effects (vomiting, gastritis, acute liver damage, myocarditis, autoimmune myositis) of delandistrogene moxeparvovecavant … [Read more]
When the benefits of hot baths in DMD are revisited
Brazilian physiotherapists have studied variations in physiological parameters in patients with Duchenne muscular dystrophy (DMD) in a seated position, in an aqueous environment or in an aerial environment: 16 DMD patients took part in an experiment in two different environments, measuring energy expenditure (in particular, oxygen consumption) and other vital parameters (functional capacity, heart rate), … [Read more]
Inhibition of a cardiac microRNA improves fibrosis and function in a mouse model of DMD
American and South Korean researchers have studied the myocardial dysfunction observed in Duchenne muscular dystrophy. Their work involved a transgenic mouse with a combined but partial dystrophin and utrophin (mdx/utrn (+/-)) deficiency: an inhibitory microRNA was delivered to the animal via an AAV (adeno-associated virus) type 9 (AAV9) to counter the effects of miRNA25, an … [Read more]
Newborn 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]
