Blog Archives
Diabetes, metformin and cancer risk in myotonic dystrophy type I
Myotonic dystrophy type I (DM1) is an autosomal dominant multisystem disorder characterized by myotonia and muscle weakness. Type 2 diabetes (T2D) and cancer have been shown to be part of the DM1 phenotype. Metformin, a well-established agent for the management of T2D, is thought to have cancer-preventive effects in the general population. In this study, … [Read more]
Release of the 77th newsletter from the Institute
The Institute of Myology wishes you all the best for 2020 Welcome to the first issue of our newsletter for the new year! The counter of the 2019 Telethon, which took place on December 6 and 7, displays 74 569 212 euros. A result that will help multiply victories ! “The 2019 Telethon … [Read more]
High throughput sequencing to diagnose “unidentified” myopathies – Interview with T. Stojkovic
The project entitled “Unidentified myopathies after negative results for corresponding thematic panels” proposed as part of the France Genome Medicine Plan 2025 is about to begin. Undertaken by Tanya Stojkovic*, and also France Leturcq**, the goal of this project is to integrate high throughput sequencing technologies into the diagnostic strategy for unidentified myopathies in order … [Read more]
Tracking muscle wasting and disease activity in FSHD by qualitative longitudinal imaging
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most frequent late-onset muscular dystrophies, characterized by progressive fatty replacement and degeneration involving single muscles in an asynchronous manner. With clinical trials at the horizon in this disease, the knowledge of its natural history is of paramount importance to understand the impact of new therapies. The aim … [Read more]
Efficiency of AAV serotype transduction after local injection – Interview with C. Trollet
The “Cell and Molecular Orchestration in Muscle Regeneration, Ageing and Diseases” team, at the Institute’s Myology Centre for Research, which is co-directed by Capucine Trollet and Vincent Mouly, has just published an article relating to the transduction efficiency of different AAV serotypes after a local intramuscular injection. Interview with Capucine Trollet, who directed this work. … [Read more]
Psychiatric and neurodevelopmental aspects of BMD
Little is known about the relationship between Becker Muscular Dystrophy (BMD) and mental disorders. This study aimed to clarify whether BMD is a risk factor for psychiatric diseases. The authors asked genetically or immunohistochemically confirmed BMD patients to participate in the study interview. Participants who consented to psychiatric tests underwent further assessments of intellectual, psychological, … [Read more]
Type III glycogenesis (GSDIII): a European study emphasizes the role of autophagy
Glycogen storage disorder type III (GSDIII), or debranching enzyme (GDE) deficiency, is a rare metabolic disorder characterized by variable liver, cardiac, and skeletal muscle involvement. GSDIII manifests with liver symptoms in infancy and muscle involvement during early adulthood. Muscle biopsy is mainly performed in patients diagnosed in adulthood, as routine diagnosis relies on blood or … [Read more]
Intramuscular blood flow in DMD and BMD: quantitative power doppler sonography relates to disease severity
Absent or truncated dystrophin in Duchenne (DMD) and Becker (BMD) muscular dystrophies results in impaired vasodilatory pathways and exercise induced muscle ischemia. Here, the researchers used power Doppler sonography to quantify changes in intramuscular blood flow immediately following exercise in boys with D/BMD. The authors quantified changes in intramuscular blood flow following exercise using power … [Read more]
Treatment with nusinersen: challenges regarding the indication for children with SMA Type 1
The natural history of patients with spinal muscular atrophy (SMA) has changed due to advances in standard care and development of targeted treatments. Nusinersen was the first drug approved for the treatment of all SMA patients. The transfer of clinical trial data into a real-life environment is challenging, especially regarding the advice of patients and … [Read more]
Inflammatory myopathies in adults: a review of the literature makes it possible to update the vaccine recommendations
The aims of this study were to update the evidence on the incidence and prevalence rates of vaccine preventable infections (VPI) in patients with autoimmune inflammatory rheumatic diseases (AIIRD) and compare the data to the general population when available. A litterature search was performed using Medline, Embase and Cochrane library (October 2009 to August 2018). … [Read more]
