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1385 news items
Research
Towards a broader phenotypic spectrum in type 0B muscular glycogen storage disease
On 26/08/2025
An international consortium of researchers reviews an ultra-rare form of muscular glycogen storage disease linked to the GYS1 gene encoding glycogen synthase: clinical and biological…
Research
A cardiac micro-pump useful in cases of decompensated cardiomyopathy in DMD
On 26/08/2025
American researchers report the successful implantation of a temporary Impella 5.5 endocavitary micro–pump developedby Abiomed: the patient was a 14–year–old boy with Duchenne muscular dystrophy,…
Research
Specific autoantibodies can predict response to treatment in dermatomyositis
On 25/08/2025
French researchers have identified specific autoantibodies associated with myositis that may predict the response to treatment of dermatomyositis with Janus kinase (JAK) inhibitors (JAKi): 39…
Research
Three new cases of the p.Ser85Cys mutation in the MATR3 gene in a form of distal myopathy
On 25/08/2025
French myologists report the case of three adults (two of whom are related) of Portuguese origin, who were treated in France for a slowly progressive…
Research
FOXK2: a new gene for congenital myopathy with ptosis
On 25/08/2025
Chinese researchers report for the first time mutations in the FOXK2 gene in five unrelated families: the clinical phenotype was that of an autosomal dominant…
Research
The Danish experience with myasthenia gravis
On 25/08/2025
Danish researchers report the results of a large epidemiological study on mortality observed in myasthenia gravis between 1985 and 2020: the information was drawn from…
Research
Gene therapy and DMD: a possible link with cardiac inflammation?
On 25/08/2025
Following the serious side effects observed during trials of micro–dystrophin gene therapy using an AAV viral vector in Duchenne muscular dystrophy (DMD), researchers at the…
Research
DMD: Canakinumab reduces certain blood markers but not IL1b
On 14/08/2025
Canakinumab (Ilaris®) is a monoclonal antibody that neutralises interleukin 1 beta (IL1β), an inflammatory marker that is highly expressed in Duchenne muscular dystrophy. It is…
Research
The particularities of dermatomyositis on black skin
On 07/08/2025
The prevalence of dermatomyositis is higher in people with dark skin. After analysing 100 cases published since 1951, Canadian authors note that for this population:…
Research
Results of a trial of creatine monohydrate in a paediatric population with FSHD
On 04/08/2025
A randomised, double-blind, placebo-controlled trial was conducted in 13 children with facioscapulohumeral muscular dystrophy (FSHD) who received either creatine monohydrate or a placebo in a…
Research
Diseases related to BAG3: a common variant associated with a more severe form
On 31/07/2025
This is the largest study conducted in Europe on the initiative of clinicians at the Institute of Myology, involving 26 patients with mutations in the…
Research
The 2nd European Congress of CMT specialists will take place at the end of October in Belgium. Register now!
On 30/07/2025
Organised by the European Federation of CMT Associations, the University of Antwerp and the European CMT Research Association (ECRA), the second edition of this congress…
Research
DMD: launch of the pivotal phase of Généthon’s gene therapy trial
On 30/07/2025
The results of the gene therapy trial (GNT0004) conducted by Généthon for Duchenne muscular dystrophy were presented on 17 May at the 2025 conference of…
Research
An effective genomic editing approach in DMD
On 28/07/2025
In Duchenne muscular dystrophy (DMD), researchers used a CRISPR-Cas9 technique to correct the deletion of exon 52 of the DMD gene by targeting exon 53…
Research
Prevalence of GNE myopathy probably underestimated
On 25/07/2025
GNE myopathy (GNEM) remains a particularly rare neuromuscular disease (with an estimated 1 to 9 cases per 1 million), probably because it remains poorly understood…
Research
French experience of spinal surgery in patients with type II SMA
On 24/07/2025
Researchers at the Centre de Référence des maladies neuromusculaires at Trousseau Hospital in Paris have studied data from patients with SMN1 type II-related proximal spinal…
Research
Genomic screening at birth: a revolution in the making
On 23/07/2025
Screening for rare diseases at birth using molecular biology is becoming a reality in several countries. The Screen4Care project brought together a group of experts…
Research
Antibodies to MuSK CRD are pathogenic in a mouse model of myasthenia gravis
On 23/07/2025
Myasthenia gravis (MG) is caused by autoantibodies directed mainly against the acetylcholine receptor (AChR) or the MuSK receptor tyrosine kinase located at the neuromuscular junction.…
Research
Inhibition of glutamate dehydrogenase as a new therapeutic approach in DMD
On 22/07/2025
European and Chinese researchers have focused on the glutamate pathway as a possible therapeutic target in Duchenne muscular dystrophy (DMD): this molecule plays an important…
Research
MoCo MRF T1-FF: a new approach to accurately assess upper body muscle tissues using NMR despite respiratory motion
On 21/07/2025
Over the last decade, MR Fingerprinting (MRF) has emerged as an effective paradigm for the rapid and simultaneous quantification of several parameters using MRI. This…