Myology research highlights
RSS feedCMT 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]
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]
Restoration of functional full-length dystrophin after intramuscular transplantation of foamy virus-transduced myoblasts
Stem cell therapy is a promising strategy to treat muscle diseases such as Duchenne muscular dystrophy (DMD). To avoid immune rejection of donor cells or donor-derived muscle, autologous cells, which have been genetically modified to express dystrophin, are preferable to cells derived from healthy donors. Restoration of full-length dystrophin (FL-dys) using viral vectors is extremely … [Read more]
Anti-TIF1-γ autoantibodies: warning lights of a tumour autoantigen
Anti-transcription intermediary factor 1 (TIF1)-γ autoantibodies are robustly linked with cancer-associated DM in adults. This review aims to give an overview of the physiological context of TIF1-γ and to determine whether there is a pathophysiological link between anti-TIF1-γ autoantibodies and the occurrence of cancer. Detection of anti-TIF1-γ autoantibodies has a high sensitivity and specificity for … [Read more]
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]
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]
