Blog Archives
Mosaic mutations in the ACTA1 gene causing early and asymmetric muscle deficits
Congenital myopathies constitute a very heterogeneous group of neuromuscular diseases both clinically and genetically. They are related to the presence of intrinsic lesions or the accumulation of inclusions inside the muscle fiber. Classically described as responsible for global hypotonia and little or no progressive, when the critical period of the first days or months of … [Read more]
The natural history of type III SMA becomes clearer
SMA is caused by the lack of the SMN protein. This degenerative disease of the motor neuron results in paralysis of very varying onset and severity. There are four types, from most severe (type 0) to the mildest (type IV), depending on the age of onset of the disease, the best motor function achieved. In … [Read more]
SRK-015 could be a additional treatment to therapies targeting SMN
Preliminary results at 6 months of the TOPAZ trial evaluating SRK-015 – a myostatin inhibitor – in 48 participants with type II and III SMA have just been communicated: SRK-015 was well tolerated and improves participants’ motor function with a dose-dependent effect. TOPAZ trial This trial takes place in the United States and Europe … [Read more]
The 249th ENMC workshop was focused on brain dystrophin and cognitive disorders in DMD
The absence of one of these forms of dystrophin in children and adults with Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD), causes varying cognitive, behavioural and communication disorders. Approximately 50% of boys with DMD suffer from these problems, and a slightly smaller percentage of those with BMD. These disorders are no detected sufficiently … [Read more]
Innovation for the non-invasive assessment of the diaphragm – Interview with T. Poulard and D. Bachasson
Thomas Poulard* and Damien Bachasson** from the Neuromuscular Physiology and Evaluation Laboratory headed by Jean-Yves Hogrel, have just published, in the Journal of Physiology, the results of a study*** to develop an ultrafast ultrasound sequence making it possible to “film” diaphragm performance during cervical magnetic stimulation (CMS) of the phrenic nerves in healthy subjects. What are the … [Read more]
M&M’s – Muscle Monday Seminar – 25 Jan. – Mario Amendola, PhD (France)
Ex vivo editing of human hematopoietic stem cells for erythroid expression of therapeutic proteins Monday 25 January 2021 – 12:00-13:00 Mario Amendola, PhD (Therapeutic genome editing’ group,UMRS951, Evry, France) Hosted by : Maria-Grazia Biferi Prior registration for people outside the institute: medecine-umrs974-myologie@sorbonne-universite.fr > More about this seminar
The Institute is recruiting a Fellow (M/F) for the service of Neuro-Myology
The service of Neuro-Myology of the reference center for rare neuromuscular diseases and muscle channelopathies at Institute of Myology, based in Pitié-Salpêtrière Hospital in Paris, France, offers a full-time fellow position as from January 2021, for a 6- or 12-month period. The fellow’s activity includes training and practice and encompasses the clinical, electromyographic and pathological … [Read more]
Interferences between innate adaptive immunity and that of T cells, with and in muscle
Evidence is accumulating that demonstrates a continued interaction between the immune system and skeletal muscle in inflammatory diseases of different pathogenic origins, in dystrophic conditions such as Duchenne muscular dystrophy as well as during normal muscle regeneration. Although a component of innate immunity, the macrophage, has been studied extensively both under pathological conditions and in … [Read more]
Clinical correlations and long-term follow-up in 100 patients with sarcoglycanopathies
The objective was here to describe a large series of patients with α, β and γ sarcoglycanopathies (LGMD-R3, R4 and R5 in the new nomenclature) and to study the phenotypic correlations and the progression of the disease. In this context, a retrospective multicenter study in 4 centers in the region of Paris collecting neuromuscular, respiratory, … [Read more]
Oculopharyngeal Muscular Dystrophy – Review
The review on oculopharyngeal muscular dystrophy which involved researchers and clinicians from the institute has just been updated in October 2020 on the GeneReviews website. Clinical features Oculopharyngeal muscular dystrophy (OPMD) is a neuromuscular disease characterized by ptosis and dysphagia due to selective involvement of the muscles of the eyelids and those of the pharynx, … [Read more]
