Blog Archives
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]
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]
Rare diseases: building a Treatabolome
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]
Relationship between clinical status and physical activity in patients suffering from inflammatory myopathies – Interview with O. Landon-Cardinal and D. Bachasson
Océane Landon-Cardinal, MD*, and Damien Bachasson, PhD** are co-first authors of an article published in Seminars in Arthritis and Rheumatism. The article relates to the relationship between clinical status (symptom severity) and physical activity in patients with inflammatory myopathies (or idiopathic myositis). What are the origins/overall context of this project? Myositis is a heterogeneous group … [Read more]
Secondary seropositive result in a case of NAM: do not hesitate to repeat the tests
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 retrospective study shows that the lag in the overall development of boys with DMD is noticeable from the age of 2 months
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 and presence of rods: an unusual observation that tends to widen the phenotype spectrum
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]
Homoplasmic deleterious MT-ATP6/8 mutations in adult patients
To assess the frequency of complex V defects, a team of French researchers including researchers from the Institute of Myology systematically sequenced the MT-ATP6 / 8 genes in 512 consecutive patients. They performed functional analysis in muscle or fibroblasts for 12 of the 27 putative homoplasmic mutations and in cybrids for 4 of them. Fibroblasts, … [Read more]
