Myology research highlights

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WMS 2020: an unprecedented edition that took place “online”!

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]

A biomarker of corticosteroid response identified in DMD

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]

Decline in muscle strength observed in SMA is linear according to Dutch study

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]

Combining newborn screening and treatment with nusinersen is the best therapeutic option from a medico-economic point of view

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]

US qualitative study explored announcing DMD diagnosis to siblings

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]

Some cases of scleroderma are associated with myositis specific autoantibodies

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]

Nusinersen temporary reduces the fatigue experienced by adults with SMA

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]

Myasthenia gravis is often accompanied by psychiatric comorbidities

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]

Limitations of whole exome studies: about an observation halfway between congenital myasthenic syndrome and mitochondrial disease

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]

Austrian study updates data on progression under MG treatment, in general and by patient subgroup

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]