Blog Archives
M&M’s – Muscle Monday Seminar – 7 Dec – Prof. Elizabeth Chen (USA)
Mechanical Tension Drives Cell-Cell Fusion Monday 7 December 2020 – 4pm-5pm Pr Elizabeth Chen (University of Texas Southwestern Medical Center, USA) Hosted by Catherine Coirault et Bruno Cadot On prior registration for people outside the Institute of Myology: medecine-umrs974-myologie@sorbonne-universite.fr > Further details on the seminar of Prof. Elizabeth Chen
Operation ‘1000 researchers at schools’ is ongoing
The operation ‘1000 researchers in schools in France and abroad’ intended to bring together researchers and middle school students to share a moment and discover the reality of research. Many establishments signed up for an intervention. About fifty researchers from the Institute of Myology took part in this operation in 65 establishments (middle and high … [Read more]
A researcher visiting schools – Interview with Nadine Dragin
Nadine Dragin is among the first scientific experts to be going out to meet high school students for the 2020 edition of Operation 1000 researchers at schools based in France and abroad. Despite the current health situation and the constraints that it imposes, she did not hesitate to go out and meet a few dozen … [Read more]
First mutations of TNNT1 gene described in France
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. They are classically described as responsible for global hypotonia, little or no selective, and almost never progressive. Nemaline myopathies (also called rod myopathies) … [Read more]
Ever more precision and speed in magnetic resonance muscle imaging
Methods of investigating neuromuscular diseases evolve over time and with the development of new technologies. Imaging is a perfect example of this, that has become over the past fifteen years a complementary tool to reach a diagnosis but is also became essential as a reliable and non-invasive biomarker in the context of the natural history … [Read more]
SMA: newborn screening and amplitude of CMAP under review
Newborn screening for SMA in 364,000 newborns conducted in Taiwan between November 2014 and December 2019 identified 21 infants with SMA (an incidence of 1 / 17,000) including: 43% with two copies of the SMN2 gene 29% three copies of SMN2 29% four copies of SMN2 70% developed type I SMA Monitoring the onset of … [Read more]
Hand strength is improved with nusinersen in adults with SMA
Nusinersen (Spinaraza®), a treatment for SMA available since 2017 in Europe, has been shown to be effective through clinical trials which mainly involved children. Over time, “real life” feedback also shows functional improvements in adults taking nusinersen. To provide new data on this treatment in this population, a Belgian team has conducted two studies: a … [Read more]
DMD: ventilation, even invasive, does not deteriorate the quality of life
Patients with Duchenne muscular dystrophy (DMD) have seen their life expectancy increase substantially in recent years. Early detection and management of respiratory complications have a lot to do with it. A classic distinction is made between invasive ventilation (IV) on a tracheostomy tube, and non-invasive ventilation (NIV), the latter being most often intermittent. In an … [Read more]
Bioengineering design of a new functional motor unit platform to study neuromuscular interaction
In many neurodegenerative and muscle disorders, as well as the loss of innervation seen in sarcopenia, improper reinnervation of muscle and dysfunction of the motor unit (MU) are found, two key pathogenic features. In vivo studies of MU are limited due to the difficulties in isolating and extracting functional motor units, so there is a … [Read more]
North American study supports the hypothesis of a genetic background predisposing to autoimmune diseases in general, and myasthenia gravis in particular
Myasthenia gravis results from the production of autoantibodies directed against the neuromuscular junction. Like other dysimmune diseases, it may have a genetic component. A recent retrospective study corroborates this hypothesis. It involved 1,032 patients with myasthenia gravis with anti-acetylcholine receptor (anti-RACh) autoantibodies followed in 14 healthcare facilities in North America. Published in September 2020, its … [Read more]
