Duchenne muscular dystrophy
RSS feedPrimary administration of biphosphonates is less deleterious than expected, but remains to be monitored, particularly in DMD
British clinicians have studied the side effects of the first venous administration of biphosphonates to combat osteoporosis: the records of 107 children who had received biphosphonates for inflammatory or genetic diseases (including Duchenne muscular dystrophy or DMD) were analysed retrospectively, the frequency of immediate complications and the length of hospitalisation were taken into account, in … [Read more]
Establishing functional trajectories is relevant to the design of therapeutic trials in DMD
Faced with the difficulties and sometimes disappointed expectations of certain therapeutic trials in Duchenne muscular dystrophy (DMD), an international consortium of researchers sought to refine the individual trajectories of the patients concerned: the study involved 51 DMD patients (aged between 7 and 18 years) and focused on the period from the loss of walking ability, … [Read more]
Glucocorticoid receptors are locally useful in DMD
American researchers sought to better understand the function and effects of long-term corticosteroid therapy in Duchenne muscular dystrophy (DMD): the gene encoding the glucocorticoid receptor was invalidated in one of the animal models of DMD (the mdx52 mouse), the double knock-out mice thus created were studied from a physiological (strength and function measurements) and histological … [Read more]
Targeted expression of HMOX1 in satellite cells plays a protective role and reduces dystrophic lesions in mdx mice
Heme oxygenase 1 (HO-1) is an enzyme with anti-inflammatory and antioxidant potential, encoded by the HMOX1 gene. Its level is high in the muscles of mdx mice and in the myoblasts of Duchenne muscular dystrophy patients derived from iPS cells. Inhibition of Hmox1 expression in mdx mice aggravates muscle damage, increases inflammation and reduces exercise … [Read more]
Severe gastrointestinal disorders are relatively common in adults with DMD
In a cohort of 80 adults with Duchenne muscular dystrophy (DMD) followed annually by the Radboud Centre in the Netherlands : six patients presented acute gastrointestinal disorders leading to hospitalisation, sometimes in intensive care, they were on average 29 years old at the time of their first admission for this reason, in order of frequency … [Read more]
CHMP opinion still negative on the renewal of Translarna’s marketing authorisation in DMD
The Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency (EMA) had decided twice against renewing the marketing authorisation for Translarna (ataluren) for Duchenne muscular dystrophy (DMD). In May 2024, the European Commission annulled the procedure on the grounds of procedural irregularities. It asked the EMA to re-analyse the available evidence, … [Read more]
Gait in DMD now easier to analyze in real life
Californian researchers have developed an original, easy-to-use method for measuring gait parameters in young patients with Duchenne muscular dystrophy (DMD): a gyroscope contained in a commercial smartphone and a specific application were used to measure the person’s movements in the three planes of space, 15 young DMD patients (aged 3 to 16) and 15 healthy … [Read more]
SNOW-P: an Australian programme to manage eating behaviours in DMD
The SNOW-P programme, which stands for Supporting Nutrition and Optimising Wellbeing Programme, was co-constructed with carers of young boys with Duchenne muscular dystrophy. Fifty-three of them responded to a survey: 48% thought their son was overweight, which led to complexes (71%) and a negative impact on his self-esteem (64%) and mobility (57%); although healthy eating … [Read more]
DMD and rhabdomyosarcoma share similarities
Canadian researchers have written a book chapter summing up the knowledge acquired in the field of muscle stem cells (also known as satellite cells): these cells, located at the periphery of the muscle fibre, are the basis of muscle regeneration, they have been studied here in the two very different contexts of Duchenne muscular dystrophy … [Read more]
A remote study of the validity of the North Star functional scale
The COVID-19 pandemic provided an opportunity to rethink the methods used to assess functional scores in neuromuscular patients, particularly those with Duchenne muscular dystrophy (DMD): American researchers studied the validity of remote administration of the NSAA (North Star Ambulatory Assessment) scale in the form of a streaming video under the supervision of a physiotherapist, the … [Read more]
