Blog Archives
CMT: greater pain after the first confinement
The management of Charcot-Marie-Tooth disease is essentially based on orthopedic rehabilitation. Due to restrictive measures linked to the COVID 19 pandemic, many patients had to interrupt shut down their treatment activities and reduce their hikes during the first confinement. An online survey of 279 CMT patients by Italian researchers published in November 2020 shows that … [Read more]
ERN EURO-NMD webinar, 10th December: Isabel Leite (UK)
Webinar organised by EURO-NMD in collaboration with ERN-RND and EAN Thursday 10th December 2020 – 4:00 am (Paris time) Challenges in the diagnosis and management of patients with myasthenia gravis Isabel Leite (Senior Researcher and Honorary Clinical Neurologist from the Nuffield Dept of Clinical Neurosciences Oxford University, UK) Inscription : https://aim.zoom.us/webinar/register/WN_CUlyQGJCQL6nU6nBr4ikQA
DMD: a meta-analysis points to the increased risk of heart complications from certain deletions in the DMD gene
Duchenne muscular dystrophy (DMD) is the most common neuromuscular disease in boys while Becker’s muscular dystrophy (BMD), a milder and less progressive allelic variant, is much rarer. Both are recessive diseases linked to the X chromosome with, in one case, a complete absence of dystrophin (DMD) and in the other, a partial deficiency of dystrophin … [Read more]
Release of the 82nd newsletter from the Institute
The teams of the Institute of Myology fully committed and organized despite the crisis Regarding this second period in the health crisis we are going through and strengthened by the measures provided in the first period, our teams have been able to adapt and know how to work in an epidemic situation. Some of our … [Read more]
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]
