Myology research highlights

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]

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]

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]

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]

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]

The classification of dermatomyositis (DM) has undergone profound changes since the identification of myositis-specific autoantibodies (MSA). Tokyo neuromuscular pathology specialists re-evaluated 256 muscle biopsies from patients with DM trying to establish correlations between histological lesions and immunological signatures: the positivity of the MxA staining, whether or not observed in the perivascular areas, was the main … [Read more]

Genome editing using CRISPR-Cas9 methodology mediated by an adenovirus-associated virus (AAV) has shown its effectiveness in mice but comes up against the impossibility of repeating injections of the viral vector. Japanese researchers have successfully overcome the obstacle of anti-AAV neutralizing antibodies by using a non-viral vector: lipid nanoparticles with low immunogenic power make it possible … [Read more]

Italian researchers and a Roche laboratory representative jointly analyzed the economic impact of compassionate use protocols for some innovative health products: two of the eleven protocols studied concerned infantile spinal muscular atrophy (SMA) and risdiplam in particular, the others were linked to cancer and multiple sclerosis, the SMA protocols respectively concerned children with type 1 … [Read more]

The team from the Marseille Neuromuscular Reference Centre has designed a small book for children with Duchenne muscular dystrophy (DMD). This didactic and abundantly illustrated work was given to nine children with DMD and their parents, within a variable period of time after the announcement of the diagnosis. Its usefulness has been the subject of … [Read more]

Chinese clinicians from Fujian province screened 49 cases of primary carnitine deficiency at birth using a biochemical technique (tandem mass spectrometry). This neuromuscular condition is indeed treatable by lifelong carnitine supplementation administered orally. In this study:  screening involved 548,247 children born in the province between 2014 and 2021,  the additional genetic tests following the confirmation … [Read more]