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1385 news items
Research
A mitochondrial gene responsible for exercise intolerance and rhabdomyolysis
On 06/11/2025
Myologists from the Institut de Myologie (clinicians from the Service of Neuro-Myology and researchers from the CRM and the Morphology Unit) and the Cochin Hospital…
Research
A useful electrophysiological score in gene therapy for SMA
On 06/11/2025
French clinicians report their experience with measuring compound muscle action potentials (CMAP) in infants with symptomatic SMA who have received gene therapy (onasemnogene abeparvovec): 19…
Research
The use of CAR-T cells to support gene therapy in DMD
On 05/11/2025
Researchers from Généthon (Evry) used genetically modified T lymphocytes (FAP-type CAR-T) to improve gene-drug transfers via adeno-associated viruses (AAV) in gene therapy: after two injections,…
Research
Changes in respiratory function in adults with SMA treated with nusinersen
On 04/11/2025
German clinicians studied the respiratory parameters of 192 adult patients with SMA receiving nusinersen treatment: patients had been treated for an average of 3.2 years,…
Research
A French study on the muscular and cardiac toxicity of immune checkpoint inhibitors
On 03/11/2025
French researchers have investigated the adverse effects of immune checkpoint inhibitors, which are latest-generation anti-cancer drugs: their research focused on the myotoxic and cardiotoxic effects…
Research
An original analysis of movements in support of neuromuscular diseases
On 03/11/2025
American researchers have developed a technology for diagnosing and monitoring neuromuscular diseases that cause movement disorders: the device is based on video analysis coupled with…
Research
There are many lessons to be learned from the national registry dedicated to FSHD
On 03/11/2025
The coordinators and contributors to the French National Observatory for Patients with Facio-Scapulo-Humeral Muscular Dystrophy (FSHD) have taken an interest in unusual forms and presentations…
Research
A wide variety of practices concerning alternative methods of repeated intrathecal injection of nusinersen in SMA
On 29/10/2025
American researchers conducted a meta-analysis of implantable devices designed to facilitate the intrathecal administration of nusinersen, one of three innovative therapies commonly used for SMA:…
Research
Phase I study suggests safety and efficacy of growth hormone and testosterone combination therapy in FSHD
On 24/10/2025
In the Phase I study called STARFISH, researchers at the University of Rochester evaluated the safety and potential efficacy of a combination treatment of recombinant…
Research
A strategy to effectively prevent sudden cardiac death in DM1
On 22/10/2025
In order to prevent sudden cardiac death in patients with DM1, cardiologists recommend the implantation of a pacemaker in asymptomatic patients with specific abnormalities detectable…
Research
Physiotherapy treatment for patients with SMA in German-speaking areas
On 20/10/2025
A survey on the profile and practices of physiotherapists treating patients with all types of spinal muscular atrophy was conducted within the SMArtCARE network, which…
Research
Ectopic pseudarthrosis in fibrodysplasia ossificans progressiva
On 17/10/2025
Fibrodysplasia ossificans progressiva (FOP) usually presents with episodes of ectopic and disabling ossification. American FOP specialists involved in a natural history protocol for this disease…
Research
A scale adapted for newborns with SMA
On 17/10/2025
American and Italian clinicians have developed and tested a new scale that is eagerly awaited in the context of the widespread use of neonatal screening…
Research
Tools for screening asymptomatic hypokalaemic periodic paralysis
On 15/10/2025
Spanish clinicians conducted a clinical, imaging and electrophysiological study on a cohort of patients with hypokalaemic periodic paralysis from the same region and carrying the…
Research
Neurodevelopment and mental health in children with symptomatic or presymptomatic SMA
On 15/10/2025
Italian clinicians undertook a large neuropsychological and neurobehavioural study in children with SMN1-related proximal spinal muscular atrophy (SMA) type 1 who had received innovative therapy…
Research
An atypical case of acetyl-CoA dehydrogenase deficiency reported in France
On 14/10/2025
Clinicians at Caen University Hospital and Necker-Enfants Malades Hospital in Paris report the case of a 33-year-old female patient whose history was confusing in several…
Research
Researchers from the institute attending the MYO-MRI+ conference
On 13/10/2025
The 5th International Imaging in Neuromuscular Disease Conference organised by the MYO-MRI+ consortium will be held in Berlin, Germany, from 9 to 11 November 2025.…
Research
Neurodevelopmental disorders quantified in DMD
On 13/10/2025
While the impact of Duchenne muscular dystrophy (DMD) on patients’ cognition is well known, an Italian team focused specifically on the prevalence of neurodevelopmental disorders…
Research
The added value of artificial intelligence in myasthenia gravis remains to be confirmed
On 10/10/2025
Taiwanese researchers conducted an exhaustive analysis of the literature on artificial intelligence (AI) tools in the context of predictive factors at certain stages of myasthenia…
Research
An alternative to statin use in cases of immune-mediated necrotising myopathy
On 09/10/2025
Italian clinicians report the results of a study on the use of a new molecule, bempedoic acid, which has lipid-lowering properties but does not carry…