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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…
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…
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:…
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…
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)…
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…
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…
ERN EURO-NMD webinar, 23 Oct.: Prof Benedikt Schoser (Germany)
On 17/10/2025
Pompe Disease – Current Treatment and Future Prospects Thursday 23 October 2025 – 16:00 – 17:00 Paris time Prof. Benedikt Schoser (Dept. of Neurology, Ludwig-Maximilians-University…
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…
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…
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…
Our 2024 Annual Report is online
On 15/10/2025
The Institute of Myology, an international centre of expertise, coordinates diagnostic, assessment, care, fundamental and applied research, clinical research and teaching activities centred around the…
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…
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…
Two young researchers from the Institute awarded at WMS and ESGCT conferences
On 13/10/2025
Two young researchers, a PhD student and a postdoctoral fellow, from the Muscle organization & therapy of dominant centronuclear myopathy team co-led by Marc Bitoun…
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.…
A look back at the Institute’s Fête de la Science
On 13/10/2025
On Monday 6 and Tuesday 7 October, we had the pleasure of welcoming 80 visitors at the Institute of Myology for “Fête de la Science”…
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…
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…