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Research
Central nervous system complications in infantile forms of Pompe disease treated
On 20/02/2024
American researchers followed children with early-onset Pompe disease on long-term enzyme replacement therapy (ERT). Six of them developed severe neurological complications: these complications appeared on…
Research
Robotic-assisted versus open thymectomy in myasthenia gravis with thymoma, Italian results
On 19/02/2024
A multicenter retrospective study conducted in Italy on 213 patients with autoimmune myasthenia operated on between 2011 and 2021 for a thymoma, advanced stage (Masaoka-Koga…
Research
Guidelines for good practice in respiratory care for DMD in the UK
On 19/02/2024
To address the disparities that exist between the various specialist centres in the UK, a neuromuscular expert group made up of pulmonologists, neurologists, physiotherapists and…
Research
The experience of a French Neuromuscular Disease Reference Centre with patients suffering from collagenopathy
On 16/02/2024
Analysis of the genetic and clinical data from a cohort of 25 patients, children and adults, with defects in the collagen VI (COL6A1-3) genes and…
Research
The serological signature of certain types of myositis could be useful in establishing a pulmonary prognosis
On 15/02/2024
British and Spanish researchers retrospectively analysed the profile of myositis-specific autoantibodies in a group of patients with inflammatory myopathy with associated pneumonitis (ILD-IMM) and in…
Research
Results of phase II trial of nipocalimab in myasthenia gravis published
On 14/02/2024
Following an initial presentation at the 2021 American Academy of Neurology meeting, the final (and more moderate) results of the Vivacity-MG trial were published in…
Events
Myology 2024 opening lecture by Drew Weissman, co-winner of the 2023 Nobel Prize in Medicine, and Jeffrey Chamberlain
On 13/02/2024
Myology 2024 in Paris, join us now! Book your place at a preferential rate until 19 Feb., after this date, registration will be possible at…
Research
Pure distal myopathy involving the TDP-43 protein
On 13/02/2024
A team of researchers and clinicians from Lyon report two unrelated families from the Ain region with late-onset distal myopathy with no signs likely to…
Research
Engineering muscle for human transplant – Interview with Bruno Cadot
On 12/02/2024
Bruno Cadot won a call for proposals organised by the German National Innovation Fund (SPRIN-D) to finance his innovative project to create a synthetic muscle,…
Events
M&M’s – Muscle Monday Seminar – 12 February – Juanma Fernández Costa (Spain)
On 12/02/2024
Organs-on-chip for muscular dystrophies: advanced models for evaluation of potential therapies 12 Febuary 2024 – From 12 to 1 pm Juanma Fernández Costa (BIST, Spain)…
Research
DMD: altered iron metabolism in cardiomyocytes corrected by deferoxamine or pioglitazone
On 12/02/2024
A Polish team has investigated the mechanism involved in Duchenne cardiomyopathy by studying the transcriptome and proteome of exon 50-deleted cardiomyocytes derived from human iPS…
Research
ASPIRO trial: muscle lesions regress less quickly and less completely than in dogs
On 09/02/2024
Muscle biopsies were taken before and after gene therapy in 10 children with myotubular myopathy participating in the ASPIRO trial. At 24 weeks after treatment,…
Research
A Franco-British study of spinal muscular atrophy not linked to chromosome 5q
On 08/02/2024
Clinicians and geneticists from the Filnemus network, including members of the Institute of Myology, and from London pooled data from patients presenting with a picture…
Research
Biphosphonates and DMD: a review of the literature confirms the 2018 management recommendations
On 08/02/2024
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…
Events
Gala Hope – Dance for Research
On 07/02/2024
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…
Research
The relevance and accuracy of functional electrophysiological tests in canalopathies and myotonia
On 07/02/2024
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…
Research
A large French series of cases of muscular amylopectinosis
On 07/02/2024
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…
Research
The Institute of Myology gives guidelines for physical activity in neuromuscular diseases
On 06/02/2024
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…
Research
Zolgensma in children with type I SMA weighing over 13.5 kg
On 06/02/2024
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…
Research
The cost of neonatal screening for SMA
On 06/02/2024
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…