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1385 news items
Research
A large proportion of MNM patients in favour of telemedicine, despite some reluctance
On 02/04/2025
A French study collected data from 103 adults with a slowly progressive neuromuscular disease who had been using non-invasive ventilation for at least six months,…
Research
The diagnostic yield of the Solve RD consortium is 12.6%
On 02/04/2025
The Solve-Rare Diseases (Solve RD) consortium brings together more than 300 clinicians, researchers and geneticists from 12 European countries and Canada. Their systematic re-analysis of…
Research
Impaired spermatogenesis in SMA
On 01/04/2025
For the first time, clinicians from the Neuromuscular Diseases Reference Centres looked at the spermatogenesis of 68 men with proximal spinal muscular atrophy (SMA) before…
Research
Mexiletine is rarely prescribed in France for myotonia in children
On 01/04/2025
The network of French specialists in childhood myotonia was mobilised to find out how often and in what ways mexiletine is prescribed, even though it…
Research
Researchers from the Institute’s imaging laboratory at the SFRMBM conference
On 31/03/2025
Experts from the Institute’s NMR Laboratory – Spectroscopy Laboratory presented their work at the 7th scientific congress of the Société Française de Résonance Magnétique en…
Research
Real-life pharmacovigilance identifies unreported side effects of eculizumab and alglucosidase alpha
On 31/03/2025
Two Chinese teams looked at the real-life side-effects of eculizumab in the treatment of myasthenia and alglucosidase alfa in the treatment of Pompe disease. Analysis…
Research
Two molecules with therapeutic potential identified in LGMD R2
On 28/03/2025
A collaboration involving I-Stem, Genethon and the Institute of Myology carried out a high-throughput screening of 2,239 drugs already approved for other diseases and other…
Research
A therapeutic advance in myopathies related to the RYR1 gene
On 28/03/2025
Swiss researchers have undertaken preclinical work to pharmacologically treat one of the forms of myopathy linked to the ryanodine receptor type 1 (RYR1) : the…
Research
Checkpoint inhibitors can induce myositis, but more rarely myasthenia gravis
On 27/03/2025
A French study involving several researchers and clinicians from the Institute of Myology has retrospectively demonstrated the toxic effects of checkpoint inhibitors (ICIs), innovative products…
Research
Tracking and preventing possible myocardial complications: a major challenge for DMD gene therapy
On 27/03/2025
As treatment with delandistrogene moxeparvovec begins to be widely prescribed in the United States for Duchenne muscular dystrophy (DMD), American experts have come together to…
Research
FSHD combined with genuine myositis: an intriguing association
On 26/03/2025
A French study involving clinicians from the Institute of Myology reports several new and disturbing cases of patients with two co-existing neuromuscular pathologies: firstly, facioscapulohumeral…
Research
An alternative method for injecting nusinersen intrathecally
On 26/03/2025
Spanish clinicians report their experience with an unconventional injection route in the treatment of SMN1-related proximal spinal muscular atrophy (SMA) with nusinersen : six patients…
Research
International recommendations for the child-adult transition in DMD
On 25/03/2025
A group of international experts has drawn up international recommendations concerning the transition of patients with Duchenne muscular dystrophy (DMD) from paediatric to adult age:…
Research
Positive phase I/II results for brogidirsen in Duchenne muscular dystrophy
On 24/03/2025
Brogidirsen is a dual-targeting phosphorodiamidate morpholino oligomer (PMO) antisense oligonucleotide composed of two sequences targeting exon 44 of the DMD gene in Duchenne muscular dystrophy.…
Research
DMD: an effective gene therapy in a severe mouse model of the disease leads to cardiac inflammation
On 24/03/2025
Duchenne muscular dystrophy, a severe and progressive hereditary muscular dystrophy, is caused by mutations in the DMD gene leading to the loss of a protein…
Research
Impaired social cognition in DMD
On 20/03/2025
An Italian team carried out a neuropsychological evaluation of 20 patients with Duchenne muscular dystrophy (aged between 7 and 17), and in particular their social…
Research
A case report of 20 congenital titinopathies due to an exon variant of the single metatranscript
On 19/03/2025
The TTN gene, which comprises 363 exons, is subject to numerous alternative splicing events. The exons excluded or partially included in the main isoforms of…
Research
Hearing difficulties found in CMT 1 disease
On 17/03/2025
While clinical studies suggest that patients with Charcot-Marie-Tooth (CMT) disease may suffer from ‘hidden’ deafness, a recent Dutch study used self-questionnaires to assess the hearing…
Research
Atypical cases of FSHD type 1 sometimes conceal another condition
On 13/03/2025
Researchers in Nice, in collaboration with several European teams, have compiled the clinical and genetic data of 157 patients with facioscapulohumeral muscular dystrophy type 1…
Research
Keys to understanding the risk of post-gene therapy myositis in DMD
On 10/03/2025
The teams responsible for developing a gene therapy (GT) mediated by a recombinant adenovirus-associate for Duchenne muscular dystrophy (DMD), delandistrogene moxeparvovec (a gene therapy authorised…