Myology research highlights

The identification of noninvasive biomarkers to monitor the disease progression in spinal muscular atrophy (SMA) is becoming increasingly important. MicroRNAs (miRNAs) regulate gene expression and are implicated in the pathogenesis of neuromuscular diseases, including motor neuron degeneration. In this study, the authors selectively characterized the expression of miR-9, miR-206, and miR-132 in spinal cord, skeletal … [Read more]

Spinal muscular atrophy (SMA) affects multiple organ systems with varying degrees of severity. Exploration of the molecular pathological changes occurring in different cell types in SMA is crucial for developing new therapies. This study collected 39 human microarray datasets from ArrayExpress and GEO databases to build an integrative transcriptomic analysis for recognizing novel SMA targets. … [Read more]

  High variability in patients’ changes in 6-minute walk distance (6MWD) over time has complicated clinical trials of treatment efficacy in Duchenne muscular dystrophy (DMD). To objectively characterise the natural history of 6MWD in DMD, the present study sought to classify patients based on their trajectories of ambulatory function over time. Ambulatory boys aged 5 … [Read more]

  Postnatal blockade of the activin type IIB receptor (ActRIIB) represents a promising therapeutic strategy for counteracting dystrophic muscle wasting. However, its impact on muscle function and bioenergetics remains poorly documented in physiologic conditions. This study investigated totally noninvasively the effect of 8-wk administration of either soluble ActRIIB signaling inhibitor (sActRIIB-Fc) or vehicle PBS (control) … [Read more]

  Corticosteroids are widely used in the management of patients with Duchenne muscular dystrophy (DMD). They improve quality of life in these patients by prolonging ambulation and preserving cardiorespiratory status. However, corticosteroid treatment is associated with a decrease in bone mineral density (BMD) and an increased risk of vertebral fractures (VF). The purpose of this … [Read more]

  Mutations in the COL12A1 gene have been described in a milder Bethlem-like myopathy in 6 patients from 3 families (dominant missense), and in a severe congenital form with failure to attain ambulation in 2 patients in a single pedigree (recessive loss-of-function). The authors describe an 8-year old girl of Polish origin who presented with … [Read more]

  This qualitative study describes the development of a health-related quality of life (HRQL) questionnaire for patients with slowly-progressive neuromuscular disease (NMD) such as myopathies and muscular dystrophies. To ensure adequate representativeness in terms of severity, three types of focus groups were formed: (1) Patients able to walk (WP). (2) Patients using a wheelchair (WCP). … [Read more]

  Myotonic dystrophy type 1 (DM1) represents a multisystemic disorder in which diffuse brain white and gray matter alterations related to clinical and genetic features have been described. Here, the authors aimed to evaluate in the brain of 24 adult patients with genetically-confirmed DM1 (i) white and gray matter differences, including cortical-subcortical gray matter volume … [Read more]

  This 12-month multicentre, randomised, double-blind, placebo-controlled trial aimed to determine the steroid-sparing effect of methotrexate (MTX) in patients with symptomatic generalized myasthenia gravis (MG). MTX 20 mg was administered orally every week vs placebo in 50 acetylcholine receptor antibody-positive patients with MG between April 2009 and August 2014. The primary outcome measure was the … [Read more]

The development of medical approaches requires preclinical and clinical trials for assessment of therapeutic efficacy. Such evaluation entails the use of biomarkers, which provide information on the response to the therapeutic intervention. One newly-proposed class of biomarkers is the microRNA (miRNA) molecules. In muscular dystrophies (MD), the dysregulation of miRNAs was initially observed in muscle … [Read more]