Myology research highlights

Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are thought to belong to a spectrum of neurodegenerative disorders with sharedclinicopathological and genetic features. ALS is a fatal disease in which motor neurons in the brain and spinal cord degenerate. As the illness progresses, patients lose the ability to walk, talk and breathe. FTD is a … [Read more]

Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders caused by genetic defects affecting neuromuscular transmission and leading to muscle weakness accentuated by exertion. Three different aspects have been investigated by members of the national French CMS Network: the difficulties in making a proper diagnosis; the course and long-term prognosis; and the response to … [Read more]

In this study, an international team has published the results of a decade’s worth of work: they have developed a new mouse model with the same genetic alterations that cause human facioscapulohumeral muscular dystrophy (FSHD). This model can be used to evaluate and optimise future therapeutic strategies for FSHD. The molecular underpinnings of types 1 … [Read more]

Complement activation at the neuromuscular junction is a primary cause of acetylcholine receptor loss and failure of neuromuscular transmission in myasthenia gravis (MG). Eculizumab, a humanized monoclonal antibody, blocks the formation of terminal complement complex by specifically preventing the enzymatic cleavage of C5. This was a randomized, double-blind, placebo-controlled, crossover trial in 14 patients with … [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]

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]