Blog Archives
Ophthalmologic monitoring is no longer compulsory for people with SMA treated with risdiplam (Evrysdi®)
Risdiplam (or Evrysdi®) obtained marketing authorization in the United States last August for patients with SMA from 2 months old. Under review by the European regulatory authorities, it is still evaluated by several clinical trials conducted in type II or III SMA (NCT02908685), type I SMA (NCT02913482), in patients aged 6 months to 60 years … [Read more]
The global quantification of muscle in MRI is more interesting than an analytical approach by muscle to judge the evolution of many neuromuscular pathologies
Muscle imaging technologies have become more sophisticated over the years. Among them, magnetic resonance imaging (MRI) plays a role not only in establishing the diagnosis of a good number of acquired or hereditary neuromuscular diseases but also in the evolutionary monitoring of the patient, whether in an individual setting or in a therapeutic protocol. The … [Read more]
M&M’s – Muscle Monday Seminar – 18 Jan – Céline Colnot (France)
Role of skeletal muscle mesenchymal progenitors in bone regeneration Monday 18th January 2021 – 12:00-13:00 Céline Colnot, PhD. (Institut Henri Mondor de Recherche Biomédicale, Créteil, France) Hosted by Capucine Trollet On prior registration for people outside the Institute of Myology: medecine-umrs974-myologie@sorbonne-universite.fr > Further details on the seminar of Céline Colnot
2021: life, let’s put some muscle into it, together
Dear patients and families, Dear donors, Dear partners, We wish you a very happy New Year and excellent health. We hope this New Year brings you the energy for renewal needed to accomplish the projects close to your heart, and we hope these projects are numerous and inspiring! We warmly thank all the … [Read more]
The Institute of Myology is recruiting a Bio-informatic engineer – Projet manager (M/F)
Located in Paris at the heart of the largest European hospital, Pitié-Salpêtrière, the Institute of Myology was created in 1996 by AFM-Telethon, a patient’s organization. Its goal: Promote Myology and have it accepted as a standalone clinical and scientific discipline. The Institute of Myology coordinates around the patient, medical care, basic research, applied research, clinical … [Read more]
Retinal thickness in OCT, a potential biomarker of MELAS syndrome
MELAS syndrome, for Mitochondrial myopathy Encephalopathy Lactic Acidosis Stroke-like, is a rare disease. It can occur as myopathy, encephalopathy, lactic acidosis and acute neurological features like pseudo-cerebrovascular accidents. It is a mitochondrial myopathy, caused by mutations in mitochondrial DNA. It can cause visual disturbances, in particular by cortical damage. A team of Japanese ophthalmologists conducted … [Read more]
The determination of alpha-glucosidase activity on fibroblasts provides the greater information in the biochemical diagnosis of Pompe disease
Pompe disease is a lysosomal disease caused by the lack of an enzymatic protein involved in glycogen breakdown. Inherited in an autosomal recessive mode, it results almost constantly in restrictive respiratory failure. A distinction is made between the infant form, which appears very early and has a poor prognosis (IOPD for Infantile Onset Pump Disease) and … [Read more]
ERN EURO-NMD webinar, 21st January: Benjamin Gallais (Canada)
Webinar organised by EURO-NMD in collaboration with ERN-RND and EAN Thursday 21st January 2021 – 4:00 am (Paris time) Sleepiness, fatigue and apathy in DM1 patients Dr Benjamin Gallais (Researcher from Cégep de Jonquière and lecturer at the Faculty of Medecine and Health Sciences, Sherbrooke University, Quebec, Canada) … [Read more]
First results from the EUROMAC register
McArdle’s disease (or type V glycogenosis) is the most common metabolic myopathy. It is characterized by exercise intolerance with myalgia, cramps, muscle weakness. It is often accompanied by rhabdomyolysis, hyperCKemia and myoglobinuria, which can lead to acute renal failure. A European register of muscular glycogenosis The EUROMAC register was set up with the support … [Read more]
Japanese phase I / II viltolarsen trial results in DMD confirm positive effects on dystrophin production and exon 53 skipping rate of DMD gene
Viltolarsen (NS-065 / NCNP-01) is an antisense oligonucleotide developed by the Japanese laboratory Shinyaku Co. Ltd. that targets the skipping of exon 53 in the dystrophin gene in Duchenne muscular dystrophy. Viltolarsen has been authorized in Japan since March 2020, an authorization which was based on two clinical trials, an American phase II trial whose … [Read more]
