Blog Archives
Frequent feeding difficulties in type II SMA and effective gastrostomy
SMA is characterized primarily by loss of muscle strength. Bulbar muscles and muscles involved in gastrointestinal transit are also affected, but they have not been as studied as skeletal muscles. Difficulties in eating (swallowing, chewing, weight gain or loss, etc.) have frequently been reported in type I SMA and sporadically in type III SMA. In … [Read more]
ERN EURO-NMD webinar, 11 March: Sabrina Sacconi (France) and Gabriele Siciliano (Italy)
Webinar organised by EURO-NMD in collaboration with ERN-RND and EAN Monday 11 March 2021 – 4:00 am (Paris time) Telemedicine in NMD: state of the art Prof Sabrina Sacconi (CHU Nice , France) and Prof Gabriele Siciliano (University Hospital Pisa, Italy ) You may register here: https://aim.zoom.us/webinar/register/WN_5LBXfwhxTVydKwnbjhc6Iw
Laure de Pontual winner of the 2020 Master Prize awarded by the SFM
Laure de Pontual was awarded the Masters 2020* prize by the French Myology Society (SFM). This prize was a reward for her excellent academic record, her work in the 2nd year of her Masters in the field of myology, and as an encouragement for her proposed thesis that she presented on 20 January 2020, during … [Read more]
Update on purely motor hereditary neuropathies: about two major Spanish and Chinese series
If there are large numbers of patients with hereditary sensory-motor neuropathies (or CMT for Charcot-Marie-Tooth disease), it is not the same for the « pure motor » forms, also known as of spinal CMT or Distal hereditary motor neuropathies (dHMN). These forms are autosomal recessively or dominantly inherited and are due to mutations in less than 20 … [Read more]
M&M’s – Muscle Monday Seminar – 8 March – Abigail Mackey (Denmark)
Human skeletal muscle from the cellular perspective in vivo and in vitro Monday 8 March 2021 – 12:00-13:00 Abigail Mackey (Department of Biomedical Sciences, University of Copenhagen, Denmark) Hosted by Vincent Mouly On prior registration for people outside the Institute of Myology: medecine-umrs974-myologie@sorbonne-universite.fr > Further details on the seminar of Abigail Mackey
DMD: start at I-Motion of a gene therapy trial using a microdystrophin designed by Genethon in collaboration with Sarepta Therapeutics
The gene therapy used in this trial combines an AAV-type viral vector and a shortened version of the dystrophin gene, the microdystrophin, designed by researchers and experts from Genethon – a laboratory funded by AFM-Telethon – in collaboration with the team of Prof. George Dickson (University of London) and the team of Caroline Le Guiner … [Read more]
New publications confirm the benefits of eculizumab in refractory myasthenia gravis with AChR antibodies
Myasthenia gravis is caused by antibodies directed against the neuromuscular junction. Approximately 10% of patients present a generalised form, resistant to normal treatments. In this situation, different therapeutic approaches can be considered, in particular complement component 5 inhibition (C5 inhibitor) with, for example zilucoplan, ravulizumab or eculizumab. The latter obtained European marketing authorisation in 2017 … [Read more]
A large Italian cohort confirms the complexity in interpreting borderline FSHD genotypes
Facioscapulohumeral muscular dystrophy (FSHD) affects 4.5 per 100,000 people in Europe. It typically manifests as muscle weakness with a specific pattern, since it affects the muscles of the face and those around the shoulder blades. The most common form, FSHD type 1, is the result of contraction of the repeated D4Z4 units in the 4qA … [Read more]
Study of long, non-coding RNA in a cohort of Becker muscular dystrophy patients: Applicability to the design of the exons 45-55 skipping therapeutic strategy for DMD
Elena Gargaun, MD, PhD in cellular and molecular biology, has been working in the “Gene therapy for DMD & pathophysiology of the skeletal muscle” team at the Institute of Myology for her thesis: “Genotype and phenotype characterisation of Becker muscular dystrophy patients with deletion of exons 45-55”, under the supervision of France Piétri-Rouxel. Her work, … [Read more]
The muscle, an essential partner… in vaccination!
The COVID-19 vaccination campaign is being discussed everywhere. It raises multiple questions, but do we know why vaccines, and in particular messenger RNA vaccines, have to be injected intramuscularly (into the muscle)? Here, we help you understand how the muscle optimises vaccination efficacy. Whether it’s a vaccine for COVID-19, the flu or hepatitis B, the … [Read more]
