Blog Archives
Andersen-Tawil Syndrome type 1 (ATS1): publication of the largest series of patients in the world
The concept of canalopathy covers a large number of genetic diseases linked to dysfunctions of ion channels of various kinds. Some of these canalopathies have a muscular and / or cardiac phenotype such as Andersen-Tawil syndrome (ATS1). This rare and little-known neuromuscular disease is transmitted as an autosomal dominant inherited disease. It is linked to … [Read more]
Dermatomyositis associated with anti-MDA5 is divided into three subgroups
Identified in 2009, the anti-MDA5 autoantibodies are considered to be specific for dermatomyositis, a rare autoimmune disease which can cause skin, muscle and / or lung damage (interstitial lung disease). A large observational study conducted between 2011 and 2017 in 37 French hospitals included 83 patients with anti-MDA5 autoantibodies, compared to 190 patients with myositis … [Read more]
DM1 and metformin : new biological evidence
Myotonic dystrophy type 1 (DM1) is a genetic disease transmitted according to an autosomal dominant mode, with a multisystemic phenotypic expression. Muscles, heart, lens, central nervous system and endocrine glands are target organs. The risk of type 2 diabetes in particular is much higher in patients with DM1 than in the general population. French work … [Read more]
Case report of a 71-year-old female patient successfully treated with nusinersen
In a letter to the editor published in May 2020, a Japanese team reports their experience of treatment with nusinersen of the oldest patient treated to date. This 71-year-old female patient has SMA type 4. She has a deletion in the SMN1 gene and 4 copies of the SMN2 gene. Her first motor problems appeared … [Read more]
Genetic abnormalities in the gene LRIF1, a rare cause of FSH2?
Facio-scapulo-humeral muscular dystrophy (FSH) is characterized by a relaxation of chromatin as well as a decrease (hypomethylation) of DNA in the D4Z4 region of chromosome 4, causing the expression of the DUX4 gene which codes for the eponymous transcription factor. Two forms of FSH: type 1 FSH (in 95% of cases) linked to a decrease … [Read more]
The neurospecific expression of SMN is necessary but not sufficient for the survival of SMA mice – Interview with M.G. Biferi & A. Besse
Interview with Maria-Grazia Biferi, Head of the BOND team (Motor-neurone disease [ALS & SMA] biotherapies team) and Aurore Besse, Preclinical Project Manager at the Institute of Myology. What are the origins of the project? This project started as a doctoral thesis by Aurore Besse and, with great teamwork, resulted in publication last May in Molecular … [Read more]
COVID-19, consultations and clinical trials: 6 questions for Dominique Duchêne
Dominique Duchêne, Project Manager, Clinical Research Associate (CRA) Manager at I-Motion, the paediatric clinical trial platform. If I could ask you who you are and what your mission is, and how long you have been working at the Institute? I joined the Institute of Myology in 2011 and I am currently Project Manager at I-Motion. … [Read more]
A review of the literature highlights the positive results of surgical fixation of the scapula in FSH
A detachment of the shoulder blades of varying importance is present in many neuromuscular diseases. Linked to weakness in the muscles fixing shoulder blades, the phenomenon is the cause of disfigurement, sometimes major functional discomfort and, sometimes, painful phenomena. This is especially true in facio-scapulo-humeral myopathy (FSH) where this detachment is constant and very pronounced. … [Read more]
Feedback from nusinersen in adults with SMA
Spinal muscular atrophy (SMA) is the second most common neuromuscular disorder in children. There are 3 types (from I to III) depending on the age of onset of symptoms and the maximum functional abilities reached. Adult patients most often have SMA type II or III who have “aged” and much more rarely type I or … [Read more]
Longer-term confirmation of positive results from NURTURE trial in presymptomatic SMA
The Biogen laboratory that develops nusinersen (Spinraza®) communicated at the annual international Cure SMA conference (which took place in virtual mode from June 10 to 12, 2020) new results from the NURTURE trial, conducted in 25 infants with presymptomatic SMA. After treatment with nusinersen started before the age of 6 weeks and continued continuously up … [Read more]
