Blog Archives
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]
Release of the 81st newsletter from the Institute
WMS 2202: Experts from the Institute of Myology take the floor The 25th International Annual Congress of the World Muscle Society, which brings together muscle experts from all over the world, will highlight the work of many researchers from the Institute of Myology created by AFM-Telethon. The French popular singer Matt Pokora will be the … [Read more]
Launching of “1000 researchers in high schools”
The scientific information event for high school students is being continued for the 8th year. It will take place from November 2 to 30, 2020. Faced with the totally unprecedented 2020 context, the will is intact to make every effort to ensure that great meetings take place, face-to-face as much as possible, and by videoconference … [Read more]
“Fête de la Science” at the Institute: 6-10 October
The operation, organized each year by the Ministry in charge of Education, Research and Innovation, aims to allow everyone to discover the world of science and meet the women and men who do science today. It will take place virtually this year. From October 6 to 9, the AFM-Telethon will offer interactive discussion sessions with … [Read more]
Experts from the Institute of Myology take the floor
Between 28 September and 2 October, the 25th International Annual Congress of the World Muscle Society, which brings together muscle experts from all over the world, will highlight the work of many researchers from the Institute of Myology, the centre of expertise on muscle and its diseases that was created by AFM-Telethon. From fundamental research … [Read more]
