Myology research highlights

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]

The Congenital Muscle Disease International Registry (CMDIR), including Congenital Muscular Dystrophy, Congenital Myopathy, and Congenital Myasthenic Syndrome, was created to identify the global congenital muscle disease population for the purpose of raising awareness, standards of care, clinical trials and in the future a treatment or cure. The registry coordinators also are interested in hearing from … [Read more]

BioMarin Pharmaceutical Inc. will start a late-stage study by the end of this year for patients with the rare and fatal muscular disorder Pompe disease. The decision to move into a Phase II/III program follows a Phase I/II study that showed that patients who received BioMarin’s drug, called BMN-701, were able to walk a longer … [Read more]

DART Therapeutics Inc. is a company focused on developing therapies for Duchenne muscular dystrophy (DMD). The company is currently developing a drug candidate obtained from Belgium-based Galapagos NV. In early studies, the drug candidate, renamed DT-200, demonstrated significant potential to increase muscle size and strength in DMD patients. The drug candidate, a selective androgen receptor … [Read more]