Myology research highlights
RSS feedInternational guidelines to improve assessment in MNMs
Clinical assessment is an essential step not only in the follow-up of patients with neuromuscular pathology but also in the context of trials, whether natural history studies or therapeutic protocols. A group of 14 experts, mostly American, English and Italian physiotherapists, came up with recommendations: to advance the reliability and validity of these assessments, in … [Read more]
Antisense oligonucleotides targeting the promoter region of the SMN2 gene in preclinical development in SMA
A Chinese team studied the effects of two antisense oligonucleotides targeting a key region of the methylation of the promoter of the SMN2 gene, in cell cultures derived from patients with SMA and in mice with a severe SMA phenotype. The results show that: transcription and overall expression of the SMN protein are improved following … [Read more]
Corticosteroids may improve or stabilize motor function in Fukuyama congenital muscular dystrophy
This is shown by a Japanese prospective study carried out openly in 9 children with an average age of 8.1±2.14 years. One had a moderate form of Fukuyama congenital muscular dystrophy (able to walk), another a severe form (inability to hold his head up) and the other seven could sit up unaided (classic form). Alternate … [Read more]
An ancillary study of the ginivostat trial in Becker myopathy looking for more objective criteria
The primary endpoint for evaluating ginivostat in Becker muscular dystrophy is the change in fibrosis on muscle biopsy after one year of treatment. Based on the data collected at the initial visit of this trial, an Italian and Dutch team looked for correlations between the measurement of the fat fraction of the whole thigh and … [Read more]
A promising technique to study muscle fibrosis at the cardiac level
French researchers from Nantes have developed a new technique for 3D visualization of muscle fibrosis based on automated image analysis (known as second harmonic generation or SHG) coupled with the study of histological sections of heart muscle: the dystrophin-deficient rat, model for Duchenne muscular dystrophy, and control rats were used to validate it; fibrotic lesions … [Read more]
A first positive assessment of the Japanese myotonic dystrophies registry
Steinert’s disease or myotonic dystrophy type 1 (DM1) is, in Japan as elsewhere, one of the most common neuromuscular diseases, especially in the adult population. The census of patients is carried out in Japan through the national neuromuscular registry called Remudy: the sub-registry devoted to myotonic dystrophies (DM) created complies with international standards as laid … [Read more]
A cohort of patients with DMD with exon 2 duplication
Duplications of the DMD gene encoding dystrophin are rare and represent a real therapeutic challenge. An American team compiled the clinical and biological data of 66 patients with this relatively uncommon genotype: 61% of them had a DMD-like phenotype, 30% a Becker-like phenotype and 9% an intermediate phenotype, 3/4 of them were treated with long-term … [Read more]
The number of people with MNM has been steadily rising for 20 years in the UK
A UK epidemiological study using primary care medical data from nearly 13 million people per year between 2000 and 2019 shows that: in 2019, 28,230 people had a diagnosis of neuromuscular disease, i.e. a prevalence of 223.6 per 100,000 people, with more men affected (239/100,000) than women (208.3/100,000); a prevalence of 40.1/100,000 for inflammatory and … [Read more]
Myositis carries an increased cardiovascular risk according to several large-scale studies
Having dermatomyositis or polymyositis would, in itself, be a risk factor for coronary artery disease, even if the underlying physiopathological mechanisms remain to be precisely identified. This is the conclusion of a study conducted in Taiwan. It focused on the health insurance data of 1,145 adults with myositis, compared to those of 732,723 control patients … [Read more]
Genetic causes of tubular aggregate myopathy remain common
Tubular aggregate myopathies are very rare neuromuscular diseases characterized by histological lesions easily recognizable by optical microscopy. They are not all of genetic origin. Exome studies performed in 33 patients in whom this diagnosis had been made revealed: to formally prove a genetic origin in two thirds of the cases studied, to identify pathological or … [Read more]
