Myology research highlights
RSS feedLarge-scale study supports the need for multidisciplinary follow-up of pregnant women with myositis
The objective was here to examine pregnancy outcomes among births to women with idiopathic inflammatory myopathy (IIM) in relation to time of IIM diagnosis using population-based data. This study used Swedish nationwide registers to identify all singleton births that occurred between 1973 and 2016 among women diagnosed with IIM between 1998 and 2016 and among … [Read more]
Cognition and SMA: an exhaustive review of the literature has not provided a clear-cut answer
Spinal muscular atrophy (SMA) is genetic and progressive, caused by large bi-allelic deletions in the SMN1 gene, or the association of a large deletion and a null variant. The objective of this study was to evaluate the evidence about cognitive outcomes in SMA. Brazilian researchers have carried out an exhaustive analysis of the medical-scientific literature … [Read more]
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]
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]
