Myology research highlights

It is in the current, unprecedented health context that the World Muscle Society (WMS) organised its first 100% virtual Congress for the 25th edition. From 28 September to 2 October 2020, researchers, clinicians and other muscle experts were invited to connect to a platform, to listen and then participate in video-conferences, view “e-Posters”, follow symposia … [Read more]

Duchenne muscular dystrophy (DMD) is the most common neuromuscular disease in boys. Due to the genetically determined absence of dystrophin, a key protein of muscle fiber, it causes progressive proximal muscle deficit and cardio-respiratory complications leading to premature death. Oral glucocorticoids, such as prednisone or deflazacort, have become the treatment of choice for the maintenance … [Read more]

Spinal muscular atrophy is the second most common neuromuscular disease in children but also affects adults. Due to a genetically determined deficit in SMN protein, SMA can lead to paralysis of the limbs and trunk, respiratory disorders and orthopedic complications, especially if it occurs early. There are four types (from I to IV) depending on … [Read more]

Spinal muscular atrophy is the second most common neuromuscular disease in children. There are four types (from I to IV) depending on the age of onset of symptoms and the maximum functional motor abilities reached. Nusinersen (Spinraza®) was the first innovative treatment for SMA to be marketed in Europe and the United States. This product, … [Read more]

This study took place from November 2017 to December 2018. Via telephone interviews and their responses to questionnaires, 10 parents were interviewed, the majority of respondents being mothers (9 and 1 father). These parents each had a child with Duchenne muscular dystrophy (diagnosed 10 years before the study, at an average age of 4.5 years). … [Read more]

Inflammatory myopathies of autoimmune origin are part of systemic diseases as well as systemic lupus erythematosus or the various forms of scleroderma. Among myositis, the most frequent are dermatomyositis and inclusion myositis. The boundaries between all these entities may be permeable, both in terms of clinical signs and biological disturbances, the first of which is … [Read more]

Spinal muscular atrophy (SMA) is the second most common neuromuscular disease in children but also affects adults. There are four types (from I to IV) depending on the age of onset of symptoms and the maximum functional abilities reached at the motor level. Nusinersen (Spinraza®) was the first innovative treatment for SMA to be marketed … [Read more]

Disease of the neuromuscular junction, myasthenia gravis (MG) is manifested by excessive fatigability of the striated muscles on exertion. It often begins (almost half of cases) with isolated eye symptoms but ends, in 80 to 90% of cases, by affecting other muscles after a year (pharyngolaryngeal, limbs, respiratory, etc.). A team of North American clinicians … [Read more]

Neuromuscular diseases constitute a heterogeneous group both at the clinical and genetic level. It sometimes happens that the borders between the nosological sets within which they are usually classified are not very watertight, even porous. This is called an overlap. From this point of view, pathologies such as autoimmune myasthenia gravis, or congenital myasthenic syndromes, … [Read more]

Myasthenia gravis is caused by the abnormal production of autoantibodies, frequently directed against elements of the acetylcholine receptor leading to a dysfunction of the neuromuscular junction. Its prevalence is estimated between 50 and 200 per million, or several thousand patients in France. In the 1960s, the treatment remission rate barely exceeded 10%. The mortality rate … [Read more]