Myology research highlights

This study aimed to develop a measure of myasthenia gravis impairment using a previously developed framework and to evaluate reliability and validity, specifically face, content, and construct validity. The first draft of the Myasthenia Gravis Impairment Index (MGII) included examination items from available measures enriched with newly developed, patient-reported items, modified after patient input. International … [Read more]

Derepression of DUX4 in skeletal muscle has emerged as a likely cause of pathology in facioscapulohumeral muscular dystrophy (FSHD). Here, the authors describe a proof-of-concept study of the therapeutic potential of antisense phosphorodiamidate morpholino oligonucleotides (PMOs) for the treatment of FSHD, by targeting DUX4 and demonstrating efficacy in both FSHD myogenic cells and human muscle … [Read more]

Rhabdomyolysis is often due to a combination of environmental trigger(s) and genetic predisposition; however, the underlying genetic cause remains elusive in many cases. Mutations in CAV3 lead to various neuromuscular phenotypes with partial overlap, including limb girdle muscular dystrophy type 1C (LGMD1C), rippling muscle disease, distal myopathy and isolated hyperCKemia. Here, the authors present a … [Read more]

Collagen VI (COLVI) is a non-fibrillar collagen expressed in skeletal muscle and most connective tissues. Mutations in COLVI genes cause two major clinical forms, Bethlem myopathy and Ullrich congenital muscular dystrophy (UCMD). In addition to congenital muscle weakness, patients affected by COLVI myopathies show axial and proximal joint contractures and distal joint hypermobility, which suggest … [Read more]

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]