Myology research highlights

Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease characterized by motor neurons degeneration and muscular atrophy. There is no effective SMA treatment. Loganin is a botanical candidate with anti-inflammatory, anti-oxidant, glucose-lowering and anti-diabetic nephropathy activities. This study investigated the potential protective effects of loganin on SMA using two cellular models, SMN-deficient NSC34 cells … [Read more]

Team 5 from the Centre for Research at the Institute of Myology, led by France Piétri-Rouxel (Sorbonne Universities, Pierre and Marie Curie University / Inserm / CNRS / Institute of Myology) enabled to define a threshold of muscular fibres containing the dystrophin needed to normalize the condition of proteins essential to the contractile function of … [Read more]

BioMarin Pharmaceutical Inc. has announced the withdrawal of its marketing authorization application from the European Medicines Agency (EMA) for Kyndrisa (drisapersen), a drug developed for Duchenne muscular dystrophy (DMD) amenable to exon 51 skipping. The decision follows deliberations at the May 2016 Committee for Medicinal Products for Human Use (CHMP) meeting, which resulted in an indication that … [Read more]

  Congenital myasthenic syndrome (CMS) due to mutations in GMPPB has recently been reported confirming the importance of glycosylation for the integrity of neuromuscular transmission. Here, the authors reviewed case notes of patients with mutations in GMPPB to identify the associated clinical, neurophysiological, pathological and laboratory features. In addition, serum creatine kinase (CK) levels within … [Read more]

  Given the assumed underreporting of Myotonic dystrophy type 2 (DM2) in the Netherlands combined with the predominant role of pain in DM2 as well as in fibromyalgia syndrome (FMS), the authors hypothesized that there will be an excess prevalence of DM2 in patients with (suspected) FMS. They aimed to determine the prevalence of DM2 … [Read more]

  In this study, the authors revised the FSHD clinical form to describe the phenotypic spectrum observed in FSHD, based on the 7-year experience of the Italian Clinical Network for FSHD. The new Comprehensive Clinical Evaluation Form (CCEF) defines various clinical categories by the combination of different features. The CCEF classifies: (1) subjects presenting facial … [Read more]

Cardiomyopathy in Duchenne muscular dystrophy (DMD) is associated with death in approximately 40% of patients. Echocardiography is routinely used to assess left ventricular (LV) function; however, it has limitations in these patients. Here, the authors compared echocardiographic measures of cardiac function assessment to cardiac MRI in children and young adults with DMD. Presence of late … [Read more]

In this study, the diagnostic outcomes of 123 congenital muscular dystrophy (CMD) patients were evaluated using traditional and Next Generation Sequencing (NGS) technologies. Muscle biopsy and immunohistochemical analysis found deficiencies of laminin α2, α-dystroglycan or collagen VI in 50% of patients. Candidate gene sequencing and chromosomal microarray established a genetic diagnosis in 32% (39/123). Of … [Read more]

Many inborn errors of metabolism can cause cardiomyopathy. Cardiomyopathy associated with glycogen storage includes PRKAG2-associated glycogen storage disease (GSD), Danon disease, infantile-onset Pompe disease (GSD II), GSD III, GSD IV, and phosphofructokinase deficiency (Tarui disease or GSD VII). This case report presents a 35-year-old female who presented with cardiomyopathy after a pregnancy complicated by primary … [Read more]

  Facioscapulohumeral dystrophy (FSHD) is associated with somatic chromatin relaxation of the D4Z4 repeat array and derepression of the D4Z4-encoded DUX4 retrogene coding for a germline transcription factor. Somatic DUX4 derepression is caused either by a 1-10 unit repeat-array contraction (FSHD1) or by mutations in SMCHD1, which encodes a chromatin repressor that binds to D4Z4 … [Read more]