Myology research highlights

German specialists have identified 21 autoimmune neurological complications in their respective canton that occurred between March 1 and June 1, 2021 after Covid-19 vaccination in the 232,603 inhabitants vaccinated. They counted:  sinus cerebral thrombophlebitis (3);  demyelinating diseases of the central nervous system (8); dysimmune neuropathies (4); myositis (3); myasthenia gravis; large cell cerebral arteritis; limbic … [Read more]

A significant number of neuromuscular patients with severe respiratory impairment are ventilated invasively, most often by means of a tracheostomy. An international study compiled data from 19 centers offering an alternative ventilation mode based on the continuous use of non-invasive ventilation coupled with insufflation-exsufflation maneuvers:  the data, directly collected from the centers or through their … [Read more]

Distal myopathy with vocal cord palsy (or VCPDM) has only been described in twelve families around the world, including one in France. VCPDM belongs to the group of multisystem proteinopathies. Italian clinicians report the observation of a 40-year-old woman fulfilling the diagnostic criteria for this ultra-rare disease:  the clinical picture shows steppage and rhinolalia, without … [Read more]

Japanese researchers analyzed brain MRI scans of 112 patients with DM1 and compared them to 50 brain MRI scans of controls. From the study of the z-Evans index, a recently developed parameter, they conclude that:  dilation of the ventricles and sylvian valleys is frequent in DM1, even at a presymptomatic stage;  these images are comparable … [Read more]

Antisynthetase syndrome is part of the inflammatory myopathies (or myositis) known as “overlapping”. Chinese clinicians retrospectively studied a cohort of 113 adults with this form of myositis but free from any neoplastic process and rheumatic disease. 25 of them had flare-ups or inflammation more frequently, on average 1.12 times per year; this subgroup was at … [Read more]

Whether it is to specify the different categories of SMA or to monitor the progress of treated patients, there is still a lack of biomarkers. German researchers have developed and tested a new approach based on the study of the metabolome in urine proton spectrometry. In their study: twenty-nine patients with SMA and naïve to … [Read more]

Cell transplantation has been considered a possible treatment strategy for muscular dystrophy for decades, yet there have been more failures than successes, if not encouraging results so far.  In this review of the literature, the authors briefly retrace the history of cell transplantation and describe the characteristics specific to skeletal muscle, and dystrophic skeletal muscle … [Read more]

The STR1VE-EU trial evaluated the safety and efficacy of a single intravenous infusion of Zolgensma (onasemnogene abeparvovec) in 33 infants with SMN1-related proximal spinal muscular atrophy (SMA) type 1, presenting one or two copies of the SMN2 gene and aged under 6 months. The results of this trial, published in October 2021, show that: 97% … [Read more]

European researchers have identified thirty individuals with a rare form of axonal CMT disease with mutations in the NEFH gene, coding a neurofilament (CMT type 2CC). An analysis of the clinical and laboratory data shows that: the first impairments, essentially motor in nature, appear in the patients’ 30s, but progress quickly to a situation of … [Read more]

Although the usual mode of presentation of RYR1-related myopathies is that of congenital myopathy, the range of phenotypes related to pathogenic variants of this gene is constantly widening. A group of French clinicians and biologists have identified a group of 13 patients who are carriers of a recurrent mutation in the RYR1 gene. An analysis … [Read more]