Blog Archives
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]
A look back at a week of action around muscle
From 1 to 7 June, a host of events were organised across France during Muscle Week to raise awareness of the importance of muscle for our health. This 2nd edition of the event received special recognition, as it was designated the Grande Cause Nationale 2024, dedicated to physical activity and sport (“Move 30 minutes a … [Read more]
Omega3s 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]
Myasthenia gravis: mycophenolate and methotrexate better tolerated than azathioprine
A UK national survey of 235 people with myasthenia gravis, 166 on azathioprine, 102 on mycophenolate and 40 on methotrexate, showed that : the most frequent adverse events were liver damage with azathioprine (23%), diarrhoea with mycophenolate (14%) and fatigue with methotrexate (18%); discontinuation of azathioprine due to adverse events was significantly more frequent than … [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]
ENMC workshop rethinks diagnosis and clinical trial design in inclusion myositis
Ten years after the publication of the diagnostic criteria for inclusion myositis, an international group of around thirty experts (including two from France) took part in the 272nd workshop of the European Neuromuscular Centre (ENMC) in June 2023 in the Netherlands. Their work resulted in: the inclusion of new diagnostic criteria, such as the finding … [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]
Lessons from the long-term follow-up of over 200 adults with congenital myasthenic syndrome in France
A retrospective study based on data from 235 adults collected by a total of 23 French expert centres, during a follow-up period averaging 34 years, shows all the diagnostic difficulties of congenital myasthenic syndromes, with :
- onset in adulthood in 12.3% of cases,
- an average delay before clinical diagnosis of 17.2 years and before genetic diagnosis of 22 years,
- an initial misdiagnosis in 58.7% of patients (congenital myopathy, seronegative autoimmune myasthenia, muscular dystrophy, etc.).
The results of this major study also highlight the importance of having a genetic diagnosis, as this has an influence on the phenotype and course, as well as on the risks of exacerbation, respiratory assistance and loss of walking ability. However, the majority of patients in the French cohort had a favourable long-term prognosis and were neither ventilated nor using a wheelchair at the time of their last consultation.
