Blog Archives
Biphosphonates and DMD: a review of the literature confirms the 2018 management recommendations
A review of the literature on the use of biphosphonates found in 19 publications concerning 1,010 children and adults with Duchenne muscular dystrophy (DMD) treated with corticosteroids: a high level of evidence that biphosphonates improve bone density in the areolar bone of the vertebral bodies of these patients; greater improvements in patients treated with intravenous … [Read more]
Gala Hope – Dance for Research
On 6 February, the Casino de Paris hosted the second Hope Gala. An exceptional evening that brought together the great names of French and international dance, in aid of research at the Institut de Myologie. Proceeds from the Gala will be donated to the Institut de Myologie Association. Initiated by Laura Arend, dancer and choreographer, … [Read more]
The relevance and accuracy of functional electrophysiological tests in canalopathies and myotonia
The team at the Tampere Reference Centre for Neuromuscular Diseases (Finland) examined the results of functional electrophysiological tests in 27 patients with canalopathy, myotonic dystrophy type 1 (DM1) or type 2 (DM2) : the most frequent symptoms were muscle weakness, myalgias, cramps and muscle stiffness, the median age at the time of functional electrophysiological testing … [Read more]
A large French series of cases of muscular amylopectinosis
French clinicians and biologists report the clinical, histopathological and genetic data of patients in whom the diagnosis of amylopectinosis (also known as Andersen’s syndrome or type IV glycogenosis) was confirmed by molecular biology in the context of a confirmed and very early muscle deficit: 10 patients from eight families were included in the study, all … [Read more]
The Institute of Myology gives guidelines for physical activity in neuromuscular diseases
In a contribution to Médicosport-santé© published on the vidal.fr website, researchers and clinicians from the Institute of Myology report on what is known about physical activity in neuromuscular diseases: they have analysed the literature over the last 30 years and give recommendations for training by disease group (muscular dystrophies, idiopathic inflammatory myopathies, metabolic myopathies, mitochondrial … [Read more]
Zolgensma in children with type I SMA weighing over 13.5 kg
New real-life results for Zolgensma in 99 children with type I SMA, including 21 aged over 2 years and 7 weighing over 13.5 kg, collected from the six UK centres authorised to administer the gene therapy product, show : good tolerance of the product and its efficacy on motor function in older children (up to … [Read more]
The cost of neonatal screening for SMA
Researchers have studied the cost-benefit ratio of newborn screening (NBS) for SMA, which has been in place in Belgium for the past five years, by comparing children who were treated and monitored over a 30-month period: the children could have received treatment either following screening or because they were symptomatic, although the costs (direct and … [Read more]
Death of Professor Annie Barois, medical expert and pioneer of the SMA
Annie Barois died on 30 January in her 95th year. She was a university professor, pediatrician and intensive care specialist and former head of the intensive care unit at Garches Hospital. Her whole life was devoted to others, and in particular to children suffering from neuromuscular diseases. Sick children were a big part of her … [Read more]
After re-examination, the CHMP’s opinion on Translarna’s marketing authorisation for DMD remains unfavourable
On 15 September 2023, the Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency (EMA) decided against renewing the marketing authorisation for Translarna (ataluren) in Duchenne muscular dystrophy (DMD). Developed by the laboratory PTC Therapeutics, the drug has until now benefited from a conditional marketing authorisation granted by the EMA for … [Read more]
Despite neonatal screening, neurodevelopmental disorders are reported in some SMA patients
The experts in charge of setting up newborn screening for spinal muscular atrophy (SMA) in Germany have warned of a number of cases of developmental disorders in children despite very early treatment with innovative therapies : 47 children from 49 families were screened between January 2018 and December 2020 for spinal muscular atrophy (SMA) and … [Read more]
