Myology research highlights

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]

Catena® (idebenone) received conditional market approval in Canada for the treatment of Friedreich’s ataxia (FA) in July 2008. Idebenone was among the first antioxidant compounds to be tested in FA. Overall, it has been shown to be safe and well-tolerated in a number of phase 1, 2 and 3 human clinical trials dating back to … [Read more]

As a strategy to treat Duchenne muscular dystrophy, arginine butyrate was employed in this study, as it combines two pharmacological activities,: nitric oxide pathway activation, and histone deacetylase inhibition. Continuous intraperitoneal administration to dystrophin-deficient mdx mice resulted in a near 2-fold increase in utrophin (protein homologous to dystrophin) in skeletal muscle, heart, and brain, accompanied … [Read more]

Congenital myasthenic syndromes are a heterogeneous group of inherited disorders that arise from impaired signal transmission at the neuromuscular synapse. They are characterized by fatigable muscle weakness. To determine the underlying defect in patients with an inherited limb-girdle pattern of myasthenic weakness, linkage analysis, whole-exome and whole-genome sequencing were performed. ALG14 and ALG2 were identified … [Read more]