Myology research highlights

Nusinersen (Spinaraza®), a treatment for SMA available since 2017 in Europe, has been shown to be effective through clinical trials which mainly involved children. Over time, “real life” feedback also shows functional improvements in adults taking nusinersen. To provide new data on this treatment in this population, a Belgian team has conducted two studies: a … [Read more]

Patients with Duchenne muscular dystrophy (DMD) have seen their life expectancy increase substantially in recent years. Early detection and management of respiratory complications have a lot to do with it. A classic distinction is made between invasive ventilation (IV) on a tracheostomy tube, and non-invasive ventilation (NIV), the latter being most often intermittent. In an … [Read more]

In many neurodegenerative and muscle disorders, as well as the loss of innervation seen in sarcopenia, improper reinnervation of muscle and dysfunction of the motor unit (MU) are found, two key pathogenic features. In vivo studies of MU are limited due to the difficulties in isolating and extracting functional motor units, so there is a … [Read more]

Myasthenia gravis results from the production of autoantibodies directed against the neuromuscular junction. Like other dysimmune diseases, it may have a genetic component. A recent retrospective study corroborates this hypothesis. It involved 1,032 patients with myasthenia gravis with anti-acetylcholine receptor (anti-RACh) autoantibodies followed in 14 healthcare facilities in North America. Published in September 2020, its … [Read more]

Congenital myopathies constitute a very heterogeneous group of neuromuscular diseases both clinically and genetically. They are related to the presence of intrinsic lesions or the accumulation of inclusions inside the muscle fiber. Classically described as responsible for global hypotonia and little or no progressive, when the critical period of the first days or months of … [Read more]

SMA is caused by the lack of the SMN protein. This degenerative disease of the motor neuron results in paralysis of very varying onset and severity. There are four types, from most severe (type 0) to the mildest (type IV), depending on the age of onset of the disease, the best motor function achieved. In … [Read more]

Preliminary results at 6 months of the TOPAZ trial evaluating SRK-015 – a myostatin inhibitor – in 48 participants with type II and III SMA have just been communicated: SRK-015 was well tolerated and improves participants’ motor function with a dose-dependent effect.   TOPAZ trial This trial takes place in the United States and Europe … [Read more]

The absence of one of these forms of dystrophin in children and adults with Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD), causes varying cognitive, behavioural and communication disorders. Approximately 50% of boys with DMD suffer from these problems, and a slightly smaller percentage of those with BMD. These disorders are no detected sufficiently … [Read more]

Evidence is accumulating that demonstrates a continued interaction between the immune system and skeletal muscle in inflammatory diseases of different pathogenic origins, in dystrophic conditions such as Duchenne muscular dystrophy as well as during normal muscle regeneration. Although a component of innate immunity, the macrophage, has been studied extensively both under pathological conditions and in … [Read more]

The objective was here to describe a large series of patients with α, β and γ sarcoglycanopathies (LGMD-R3, R4 and R5 in the new nomenclature) and to study the phenotypic correlations and the progression of the disease. In this context, a retrospective multicenter study in 4 centers in the region of Paris collecting neuromuscular, respiratory, … [Read more]