Blog Archives
Overview of the main myopathies that can begin in the over-50s
A French review has set out to provide an overview of the most emblematic late-onset myopathies (LOMs), those which may appear after the age of 50, and to identify the pitfalls to be avoided and the important steps in the diagnostic approach to these pathologies. Based on an assessment of the literature and medical data … [Read more]
Analysis of a large French cohort of patients with mitochondrial diseases
The French network of diagnostic laboratories for mitochondrial diseases (MitoDiag) has published the results of a clinical and genetic study (panel, WGS and/or WES on the nuclear genome) of around 2,000 patients suspected of having a primary mitochondrial disease (PMD). The authors observed: pathogenic variants in 397 patients (newborn to 81 years), 74% of whom … [Read more]
The results of the evaluation of omigapil in congenital muscular dystrophies have been published
CALLISTO was a phase I trial designed to assess the safety, tolerability and pharmacokinetics of omigapil for 12 weeks in 20 children with congenital muscular dystrophy (CMD) linked to COL6 or LAMA2. The results of the study published this year showed good safety and a favourable pharmacokinetic profile of the product in these children. However, … [Read more]
ERDERA, a European partnership ushering in a new era in rare disease research – Interview with Dr Gisèle Bonne
The European Research Alliance for Rare Diseases (ERDERA) is a European partnership that aims to improve the lives of millions of rare disease patients in Europe – and beyond – by advancing research into the prevention, diagnosis and treatment of rare diseases. Supported by the European Union and the Member States as part of Horizon … [Read more]
AcadeMYO 9-11 December 2024 online
Join us for this unique opportunity to perfect your skills in myology, an increasingly exciting discipline dedicated to neuromuscular science! All professionals manifesting some interest in the field are encouraged to apply. Be prompt in doing so as the maximal gauge has been set to 100 participants this year. ➢ Watch this space for the … [Read more]
Review of gene therapy approaches in CMT
An increasing number of gene therapy products are being developed for Charcot-Marie-Tooth disease. This article provides an overview of the main approaches under study: a single phase I/II trial is underway in the United States in CMT 2S, involving 10 patients, twelve products are in preclinical development, for which the choice of vector and route … [Read more]
30 September: International LGMD Awareness Day
The 10th International Limb Girdle Muscular Dystrophy Awareness Day will take place on 30 September. Organised by the LGMD Awareness Foundation, the aim of this day is to draw attention each year to this group of rare neuromuscular diseases that have an impact on the lives of many people, children and adults alike, in every … [Read more]
A unique microscopy technology has revealed previously unknown mechanisms of endocytosis in the axon – Interview with Stéphane Vassilopoulos
Satish Babu Moparthi, post-doctoral fellow, and Stéphane Vassilopoulos, co-director of the ‘Muscle cell organization and therapy of dominant centronuclear myopathy‘ team at the Research Centre of the Institute of Myology, have just published an article in the journal Science* in collaboration with Christophe Leterrier’s team (Aix-Marseille University, CNRS). Using a combination of two cutting-edge technologies, they … [Read more]
Cardiovascular damage in McArdle’s disease
A review of the literature on cardiovascular damage in McArdle disease, or type V glycogenosis, shows that : 21 cases have been described, including 18 men, most often with coronary artery disease (17 cases), or, more rarely, hypertrophic cardiomyopathy. The authors of this review therefore recommend regular cardiac monitoring in McArdle’s disease. Cardiac comorbidities … [Read more]
21 September: International Myositis Awareness Day
Every year since 2001, 21 September has been International Myositis Awareness Day. Myositis is an autoimmune muscle disease that can affect adults and children. It causes weakness, muscle wasting and fatigue, and sometimes affects the skin, heart and lungs. There are different forms of the disease (dermatomyositis, inclusion myositis, etc.), with different mechanisms and symptoms. … [Read more]
