Myology research highlights

Myotonic dystrophy type 1 (DM1) is caused by DM protein kinase (DMPK) transcripts containing an expanded (CUG)n repeat. Antisense oligonucleotide (AON)-mediated suppression of these mutant RNAs is considered a promising therapeutic strategy for this severe disorder. The authors of the present study have previously identified a 2′-O-methyl (2′-OMe) phosphorothioate (PT)-modified (CAG)7 oligo (PS58), which selectively … [Read more]

In 2004 a Cochrane review and AAN practice parameter concluded that prednisone 0.75 mg/kg/d is of short-term efficacy in Duchenne muscular dystrophy (DMD). Subsequent efforts to standardize care for DMD found wide variation in corticosteroid use. In this study, the authors surveyed physicians who follow patients with DMD: (1) Clinics in the TREAT-NMD (Translational Research … [Read more]

Individuals with dystrophinopathy lose upper extremity strength in proximal muscles followed by those more distal. Current upper extremity evaluation tools fail to fully capture changes in upper extremity strength and function across the disease spectrum, as they tend to focus solely on distal ability. The Kinect by Microsoft is a gaming interface that can gather … [Read more]

Cellular therapy is a potential approach to improve the regenerative capacity of damaged or diseased skeletal muscle. However, its clinical use has often been limited by impaired donor cell survival, proliferation and differentiation following transplantation. Additionally, functional improvements after transplantation are all-too-often negligible. Because the host microenvironment plays an important role in the fate of … [Read more]

In this study, the authors aimed to obtain minimum point prevalence rates for the skeletal muscle channelopathies and to evaluate the frequency distribution of mutations associated with these disorders. Analysis of demographic, clinical, electrophysiologic, and genetic data of all patients was assessed at their national specialist channelopathy service. Only patients living in the United Kingdom … [Read more]

Early-onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD) is a myopathic disorder associated with mutations in MEGF10. Following identification of a novel homozygous deletion of exon 7 in MEGF10, the authors of this study diagnosed a 10 year-old girl with EMARDD by novel analysis of SNP array hybridization and exome sequence coverage. In contrast to … [Read more]

A newly defined congenital myasthenic syndrome (CMS) caused by DPAGT1 mutations has recently been reported. While many other CMS-associated proteins have discrete roles localised to the neuromuscular junction, DPAGT1 is ubiquitously expressed, modifying many proteins, and as such is an unexpected cause of isolated neuromuscular involvement. In this publication, the authors present detailed clinical characteristics … [Read more]

Coats syndrome is a rare extramuscular complication of facioscapulohumeral muscular dystrophy type 1 (FSHD1) associated with large D4Z4 contractions. This study was carried out to investigate the frequency of Coats syndrome and its association with D4Z4 contraction size in patients with FSHD1. The authors searched a North American FSHD registry and the University of Rochester … [Read more]

Scoliosis in people with Duchenne muscular dystrophy is usually progressive and treated with surgery. However, it is unclear whether the existing evidence is sufficiently scientifically rigorous to support a recommendation for spinal surgery for most people with Duchenne muscular dystrophy and scoliosis. This is an updated review and an updated search was undertaken in which … [Read more]

Mutations in several known or putative glycosyltransferases cause glycosylation defects in α-dystroglycan (α-DG), an integral component of the dystrophin glycoprotein complex. The hypoglycosylation reduces the ability of α-DG to bind laminin and other extracellular matrix ligands and is responsible for the pathogenesis of an inherited subset of muscular dystrophies known as the dystroglycanopathies. By exome … [Read more]