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1688 news items
Research
A standardised digital platform for Charcot-Marie-Tooth disease
On 12/11/2025
American and Australian researchers have developed a digital platform designed to facilitate the assessment, even remotely, of patients with Charcot-Marie-Tooth disease (CMT): the platform is…
Research
A genetic predisposition to muscle toxicity from checkpoint inhibitors?
On 10/11/2025
Checkpoint inhibitors used in cancer treatment are likely to cause inflammatory myopathies and/or myocarditis. German and Swiss clinicians sought to identify risk factors for the…
Research
A genetic isolate of limb-girdle muscular dystrophy in Uruguay
On 10/11/2025
Clinicians and researchers in Montevideo, Uruguay, report clinical and biological data from the world’s largest cohort of autosomal dominant limb-girdle muscular dystrophy linked to the…
Research
Gene therapy appears to be more favourable than nusinersen in symptomatic type I SMA, according to an initial comparative analysis by the French SMA Registry.
On 07/11/2025
Based on data from 309 patients listed in the SMA France Registry and suffering from type I proximal spinal muscular atrophy (SMA), French clinicians conducted…
Research
A new familial case of distal myopathy linked to the STPAN1 gene
On 07/11/2025
Belgian clinicians report clinical and biological data from a family diagnosed with distal myopathy linked to the STPAN1 gene: the clinical picture consisted of muscle…
Events
ERN EURO-NMD webinar, 6 Nov.: Dr. Lorenzo Maggi (Italy) & Lutgarde Allard (EuMGA & Patient expert)
On 06/11/2025
How to evaluate patients with Myasthenia Gravis Thursday 6 November 2025 – 16:00 – 17:00 Paris time Dr. Lorenzo Maggi (Fondazione IRCCS Istituto Neurologico Carlo…
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…
Events
M&M’s – Muscle Monday Seminar – 10 Nov. – Dr Anna Urciuolo (Italy)
On 05/11/2025
Advanced organoids for studying the human neuromuscular system in vitro Monday 10 November – from 12 to 1pm (Paris time) Dr Anna URCIUOLO (Italy) invited…
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,…
Events
Focus on I-Motion clinical trial platforms
On 04/11/2025
Interview with Dr Marina Colella, Deputy Director and Head of Medical Staff at I-Motion, and Saadane Kirouani, Deputy Director and Head of Non-Medical Staff. What…
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:…
Events
ERN EURO-NMD webinar, 30 Oct.: Marianne Nordstrøm (Norway)
On 24/10/2025
Nutrition in Myopathies, Including Supplements Thursday 30 October 2025 – 16:00 – 17:00 Paris time Marianne Nordstrøm, PhD (Frambu Resource Centre for Rare Disorders and…
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…
Pyrimidine nucleotide therapy appears to reduce mortality and restore motor function in TK2 deficiency.
On 23/10/2025
A multicentre retrospective study evaluated the effects of daily oral administration (treatment lasting on average approximately two years) of deoxycytidine or deoxythymidine (≤ 800 mg/kg/day)…
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…