Blog Archives
CMT disease: the founder mutation of the HINT1 gene is frequently found in Russia
Pathogenic variants in the HINT1 gene lead to hereditary axonopathy with neuromyotonia. However, many studies show that neuromyotonia may remain undiagnosed, while axonopathy is the major clinical finding. The most common cause of neuromyotonia and axonopathy, especially in patients of Slavic origin, is a c.110G>C (p.Arg37Pro) pathogenic variant in homozygous or compound heterozygous state. In … [Read more]
QuantiMus: a machine learning-based approach for high precision analysis of skeletal muscle morphology
Skeletal muscle injury provokes a regenerative response, characterized by the de novo generation of myofibers that are distinguished by central nucleation and re-expression of developmentally restricted genes. In addition to these characteristics, myofiber cross-sectional area (CSA) is widely used to evaluate muscle hypertrophic and regenerative responses. Here, a team of Carlifornian researchers introduces QuantiMus, a … [Read more]
Long-term data with idebenone on respiratory function outcomes in patients with DMD
Decline in respiratory function in patients with DMD starts during early teenage years and leads to early morbidity and mortality. Published evidence of efficacy for idebenone on respiratory function outcomes is currently limited to 12 months of follow-up time. Here the authors report data collected as retrospective cohort study (SYROS) from 18 DMD patients not … [Read more]
Institute seminar cancellation – 28 Feb. – Davide Gabellini, PhD (Italy)
Seminar cancellation FSHD muscular dystrophy molecular pathogenesis and therapeutic perspectives Friday, 28 February 2020 – 11:00-12:00 Davide Gabellini, PhD (Head of Unit, Division of Genetics and Cell Biology, IRCCS Ospedale San Raffaele, Milano, Italy) Host : Sestina Falcone Institute of Myology auditorium Hôpital de la Pitié-Salpêtrière Building Babinski Entrance 82 bd Vincent Auriol … [Read more]
Institute seminar – 25 Feb. – Francesco Roselli, MD, PhD (Germany)
Synaptic mechanisms of neurodegeneration and neuroprotection in Amyotrophic Lateral Sclerosis Tuesday 25 February 2020 – 12:00-13:30 Francesco Roselli, MD, PhD (Dept. of Neurology, Ulm University, and German Center for Neurodegenerative Diseases (DZNE)-Ulm, Germany) Hosted by : Maria-Grazia Biferi Institute of Myology auditorium Hôpital de la Pitié-Salpêtrière Building Babinski Entrance 82 bd Vincent Auriol metro … [Read more]
Severe abdominal manifestations in juvenile dermatomyositis
Juvenile dermatomyositis (JDM) is a rare and heterogeneous pediatric-onset idiopathic inflammatory myopathy. Gastrointestinal (GI) involvement occurs in 22% to 37% of JDM patients but has only been described in case reports. In this retrospective, single-center, observational study, the authors aimed to assess the causes and management of severe GI manifestations in JDM patients. They studied … [Read more]
Improved muscle function in a phase I/II clinical trial of albuterol in Pompe disease
This 24-week, Phase I/II, double-blind, randomized, placebo-controlled study investigated the safety and efficacy of extended-release albuterol in late-onset Pompe disease stably treated with enzyme replacement therapy at the standard dose for 4.9 (1.0-9.4) years and with no contraindications to intake of albuterol. Twelve of 13 participants completed the study. No serious adverse events were related … [Read more]
Statin-induced anti-HMGCR myopathy: successful therapeutic strategies for corticosteroid-free remission in 55 patients
The objective of this study was to describe successful therapeutic strategies in statin-induced anti-HMGCR myopathy. Retrospective data from a cohort of 55 patients with statin-induced anti-HMGCR myopathy, sequentially stratified by the presence of proximal weakness, early remission, and corticosteroid and IVIG use at treatment induction, were analyzed for optimal successful induction and maintenance of remission … [Read more]
The Institute of Myology is recruiting a Grant office manager (M/F)
Located in Paris at the heart of Europe’s largest hospital centre, the Pitié-Salpêtrière, the Institute of Myology was founded in 1996 at the instigation of an association of patients and patients’ parents, the AFM-Téléthon. Its objective: to promote the existence, recognition and development of myology as a clinical and scientific discipline in its own right. … [Read more]
Institute seminar – 13 Feb. – Prof. Dr. Stephan Kröger (Germany)
Muscles have feelings too: muscle spindle function in normal and dystrophic muscle Thursday 13 February – 13:30-15:00 Stephan Kröger (Department of Physiological Genomics, Biomedical Center, Ludwig-Maximilians-University, Munchen, Germany) Hosted by : Laure Strochlic Institute of Myology auditorium Hôpital de la Pitié-Salpêtrière Building Babinski Entrance 82 bd Vincent Auriol metro Chevaleret Coordinated movements, including … [Read more]
