Blog Archives
A novel approach for posterior spinal instrumentation and fusion taking into account treatment with nusinersen
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. Especially in types I and II, SMA is the cause of paralysis, often progressing to respiratory failure and severe orthopedic deformities, … [Read more]
Dysphagia and dysarthria in children with NMD: about a Dutch survey
Neuromuscular diseases (NMD) are characterized by their great diversity, both clinically and genetically. They affect children as well as adults and have in common the impairment of one or more elements making up the motor unit. The vast majority are linked to genetic defects, especially in the pediatric population, but it can have another origin, … [Read more]
Impact of a national genetic carrier-screening program for reproductive purposes
The Israeli population, encompassing 9 million citizens, is comprised of diverse communities. The Ministry of Health genetic screening program for reproductive purposes was introduced in 2013. This program is mainly aimed at severe incurable diseases with high rates of infant and childhood morbidity and/or mortality, with a carrier frequency of at least 1:60 and/or a … [Read more]
COVID-19 and the organisation of the neuromyology consultation – 5 questions for Isabelle Coupa
Interview with Isabelle Coupa, Nursing Manager at the Institute of Myology’s Service of Neuro-Myology. If I could ask you who you are and what your mission is? I am Isabelle Coupa, Nursing Manager at the Institute of Myology’s Service of Neuro-Myology. I hold a University Degree in Nursing and I have worked for a number … [Read more]
Sport activity improves mental and social well-being in NMD patients
Neuromuscular diseases (NMD) are characterized by their great diversity, both clinically and genetically. They affect children as well as adults and have in common the impairment of one or more elements making up the motor unit. The vast majority are linked to genetic defects, especially in the pediatric population, but it can have another origin, … [Read more]
Advances in Steinert disease
Steinert disease or myotonic dystrophy type 1 is a rare disease of genetic origin. It affects the muscles, which become weak (dystrophy) and difficult to relax after contraction (myotonia). It also affects other organs (heart and respiratory systems, digestive system, hormone secretions and nervous system): it is a so-called multi- system disease. This document presents news … [Read more]
Advances in myotonic dystrophy type 2
Myotonic dystrophy type 2 or PROMM (Proximal Myotonic Myopathy) is a rare disease of genetic origin. It affects the muscles, which become weak (dystrophy) and difficult to relax after contraction (myotonia). It can also affect other organs (heart, eyes, etc.). It manifests in adulthood and progresses slowly. This disease has many similarities with another, much … [Read more]
Release of the 79th newsletter from the Institute
The Institute of Myology teams fully mobilised! Welcome to our 79th newsletter. After these last weeks of confinement, Dr. Vincent Varlet, Secretary General of the Institute of Myology, and Pr. Bertrand Fontaine, Medical and Scientific Director of the Institute of Myology, Head of the service of Neuro-Myology and Director of the Myology Centre … [Read more]
Efgartigimod in Myasthenia gravis : the ADAPT phase III trial would have met its primary efficacy endpoint
An immunomodulatory biotherapy, efgartigimod is a fragment of antibodies directed against the neonatal Fc or FcRn receptors. These receptors prevent the breakdown of immunoglobulins G (IgG), which include the autoantibodies produced in myasthenia gravis. By binding to FcRn, efgartigimod (or ARGX-113) reduces the recycling of IgG and therefore their circulating rate. Administered as an infusion … [Read more]
COVID-19 and clinical trials in adults – 6 questions for Kubéraka Mariampillai
Interview with Kubéraka Mariampillai, Project Manager for the Adult Clinical Trials platform at the Institute of Myology, headed by Prof. Bertrand Fontaine and coordinated by Dr Giorgia Querin, and member of “Inflammatory Myopathies and Innovative Targeted Therapies” team 8 at the Research Centre, headed by Prof. Olivier Benveniste. If you could tell me who you … [Read more]
