Myology research highlights
RSS feedThe particularities of dermatomyositis on black skin
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: the initial diagnosis is incorrect in 10% of cases, with myositis being confused with hypertrophic lichen planus, an allergic reaction, a skin infection, etc. dyschromia (hypo- or hyperpigmentation), associated in … [Read more]
Results of a trial of creatine monohydrate in a paediatric population with FSHD
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 crossover design over two 12-week periods, separated by a 6-week treatment-free period. Eleven participants completed the trial. No significant difference between creatine monohydrate and placebo was observed on the MFM-32 … [Read more]
The 2nd European Congress of CMT specialists will take place at the end of October in Belgium. Register now!
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 will bring together about 150 clinicians and scientists who are experts in Charcot-Marie-Tooth disease (CMT) from 23 to 25 October 2025 in Antwerp, Belgium. The two-day programme will feature oral … [Read more]
DMD: launch of the pivotal phase of GĂ©nĂ©thon’s gene therapy trial
The results of the gene therapy trial (GNT0004) conducted by GĂ©nĂ©thon for Duchenne muscular dystrophy were presented on 17 May at the 2025 conference of the American Society of Gene & Cell Therapy (ASGCT). They demonstrate stabilisation of motor function and a significant and sustained reduction in CPK levels in patients treated at the effective … [Read more]
An effective genomic editing approach in DMD
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 and restoring the open reading frame (ORF) of dystrophin. Injection of the genome editing material: induced a 68% restoration of dystrophin in cardiomyocytes derived from induced pluripotent stem cells (iPSCs) … [Read more]
Prevalence of GNE myopathy probably underestimated
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 and poorly diagnosed: in addition to the international patient register, researchers belonging to the international consortium dedicated to GNEM have used information contained in the literature and in public databases … [Read more]
French experience of spinal surgery in patients with type II SMA
Researchers at the Centre de RĂ©fĂ©rence des maladies neuromusculaires at Trousseau Hospital in Paris have studied data from patients with SMN1 type II-related proximal spinal muscular atrophy operated on for spinal deformity: the study included 25 patients operated on between 2009 and 2022 and divided into two groups, receiving either magnetic growth rods (MCGR type) … [Read more]
Genomic screening at birth: a revolution in the making
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 including clinicians, biologists and representatives of both patients and industry: from an initial list of 484 actionable genes, the experts defined six selection criteria largely inspired by the Wilson and … [Read more]
Inhibition of glutamate dehydrogenase as a new therapeutic approach in DMD
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 role in the presynaptic endings of neuromuscular junctions, pharmacological inhibition of the enzyme GLUD-1 (glutamate dehydrogenase 1) by compound R162 was analysed in mdx mice, a model of DMD, the … [Read more]
Mapping dystrophin expression in the central nervous system
In the context of the cognitive difficulties frequently observed in Duchenne muscular dystrophy (DMD), British researchers have reported work on the presence of dystrophin in the brain, whether adult or simply developing: transcripts of the DMD gene were analysed on samples from a bank of brain tissue at different stages of development, in particular, the … [Read more]
