Myology research highlights

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]

Rare diseases are rare in terms of the number of affected individuals, but globally affect around 6% of the population. In more than 70% of cases, they are genetically determined. Their rarity leads to a late diagnosis, 25% of patients wait 5 to 30 years. It is therefore essential to draw the attention of patients … [Read more]

Necrotising autoimmune myopathy (or NAM) is a form of myositis without significant inflammation. Just recently reported, this condition is often considered to be related to the long-term oral use of statins. It involves a growing number of individuals of all ages, including children. The clinical picture is dominated by chronic myalgia, muscle deficit of varying … [Read more]

A Dutch study involves a cohort of 76 participants with DMD aged under 26, recruited by invitation via two patient associations, and compared with other data from the medical monitoring of more than 12,000 young people not affected by the disease. The authors have compiled data from early childhood developmental assessments obtained through clinical monitoring … [Read more]

Myopathies linked to the FLNC gene are highly varied in their expression. Initially described in the context of myofibrillar myopathies alone, these genetically determined neuromuscular diseases have an increasingly wide phenotype spectrum, especially since the application of high-throughput sequencing (NGS) to atypical clinical pictures with no molecular signature.
Thus, mutations in the FLNC gene, which codes … [Read more]