Myology research highlights

Plectin is a large protein that stabilises the position of intermediate filaments inside the cell. An Austrian team has reviewed this protein’s involvement in the area of neuromuscular disease and beyond: mutations of the PLEC gene (that codes plectin) can be responsible for a type of limb-girdle muscular dystrophy (LGMD type R17), myasthenic syndrome, and/or … [Read more]

Respiratory status is a key determinant of prognosis in patients with Duchenne muscular dystrophy (DMD), the most common myopathy in children. The disease results in progressive muscle deficit predominantly at the root of the limbs and is accompanied by cardio-respiratory complications.  A French team involving researchers and clinicians from the Institute of Myology aimed to … [Read more]

The French Rare Health Care for Neuromuscular Diseases Network (FILNEMUS) and patient associations, notably the AFM-Telethon, conducted a multicenter study during the first wave of the Covid-19 pandemic in France, from March 25, 2020 to May 11, 2020. The results reveal :  a lower prevalence of Covid-19 in neuromuscular patients followed by the Filnemus network … [Read more]

To overcome the shortcomings of functional scales in children such as CHOP-INTEND, German researchers have developed and tested a method for capturing and analyzing movement in ten children with SMA (eight with type I and two type II), aged 2 to 46 months.  the commercial device used (KineMAT) allows to record the child’s movements objectively … [Read more]

The question of dual therapy, to gain in efficiency, is arising in SMA. Still, few studies have been published on this subject so far. Early work studying the effects of a double treatment has recently been published:  an American study in a model mouse with a severe form of SMA shows that, compared to one … [Read more]

A German team publishes the results of the long-term follow-up of two children with autoimmune necrotizing myopathy, and highlights:  the difficulties of this diagnosis in childhood due to its great rarity, an unspecific clinical picture (in the two children an impairment of the girdles with a sharp increase in CKemia and abnormal distribution of α-dystroglycan … [Read more]

A study conducted in Denmark in 376,858 adults who presented with a so-called “major” osteoporotic fracture (hip, radius, humerus or vertebra) between 1995 and 2011, compared to 376,858 control adults, shows that:  the risk of this type of complication is not increased in patients with autoimmune myasthenia gravis on corticosteroid therapy, compared to those who … [Read more]

An international consortium of researchers and clinicians has identified thirty patients with an excessively rare autosomal recessive limb girdle muscular dystrophy (LGMD type R6 linked to d-sarcoglycan deficiency).  The clinical and biological data of twenty-three of them were collected and analyzed:  the results illustrate the benefit of high throughput sequencing techniques for the diagnosis of … [Read more]

In DMD, the fibrosis observed in both skeletal muscle and myocardium is the most often irreversible outcome of a process of degeneration of the muscle fiber.  American researchers have developed a monoclonal antibody directed against the LTBP4 protein which interacts with the growth factor TGFb. Using this antibody have resulted in:  in vitro, stabilization of … [Read more]