Myology research highlights

Science can sometimes solve historical puzzles, such as the one surrounding the death of Alberto Canfrancesco della Scala, Lord of Verona and protector of Dante. He died in 1329 at the age of 38, a few days after his victorious entry into Treviso. The few writings available report nausea and diarrhea in the hours before … [Read more]

Glucocorticoids are the standard treatment for Duchenne muscular dystrophy (DMD). There is no consensus on the type of steroid and the method of administration (doses, frequency). North American researchers analyzed data from the placebo arms of two clinical trials testing the effectiveness of ataluren in patients with a stop mutation in the DMD gene, who … [Read more]

Nusinersen is an antisense oligonucleotide that has been used in the treatment of SMA since 2016. Its method of administration (intrathecal) and the need for repeated injections may be a barrier for some patients.  Researchers studied health data from American patients with SMA, 23 type I, 48 type II and 260 type III, who received … [Read more]

Supported by AFM-Telethon, the 15th edition of the International Society of Neuro-immunology congress was held online from November 8 to 12, 2021. It was co-chaired by Prof. Sonia Berrih-Aknin, from the Institute of Myology. During a session dedicated to myasthenia gravis, in its communication, the Rozen Le Panse team:  reminded that this complex disease of … [Read more]

Glycogenosis type IIIa is a deficiency in a debranching enzyme. It initially results in hepatic disorders but can classically lead to muscle disorders and increased fatigue from the third decade of life.  A muscle imaging study, supplemented by a serie of functional tests, was carried out in the United States in 17 sick children and … [Read more]

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]