Myology research highlights

For the duration of the trial, Spinraza™ reduced the risk of death or the need for assisted ventilation in infants with type 1 SMA by 47%. In a press release published on January 13, 2017, Biogen Laboratories and IONIS Pharmaceuticals, presented the final results of the ENDEAR trial that terminated in August 2016, at the … [Read more]

Cori-Forbes disease, or type III glycogenosis, is due to abnormalities in the GDE gene encoding the glycogen-disrupting enzyme. Hepatic involvement is common and accounts for most symptoms in childhood, whereas muscle involvement occurs more randomly and particularly with a late-onset, including in adulthood. In an article published in September 2016, a French team described the … [Read more]

This study aimed to survey female carriers for Duchenne and Becker muscular dystrophy to identify barriers to carrier testing and the impact of carrier risk knowledge on cardiac and reproductive health management. Women who have or had biological sons with Duchenne or Becker muscular dystrophy were surveyed and enrolled in the US DuchenneConnect patient registry, … [Read more]

  Myotonic dystrophy (DM) and facioscapulohumeral muscular dystrophy (FSHD) are the two most common adult muscular dystrophies and have progressive and often disabling manifestations. Higher levels of medication adherence lead to better health outcomes, especially important to patients with DM and FSHD because of their multisystem manifestations and complexity of care. However, medication adherence has … [Read more]

Polyglucosans myopathies are rare muscle diseases characterised by an accumulation of glycogen. Inherited and transmitted in an autosomal recessive mode, they are classified as metabolic myopathies and more precisely, with glycogenosis. In the most frequent case, type IV glycogenosis, a mutation of the GBE1 gene (encoding glycogen branching enzyme), results in a variable deposit of … [Read more]

Myositis is a group of acquired neuromuscular diseases associated with immune system dysfunction. Generally, the production of autoantibodies generally confirms the diagnosis. Among the myositis are inflammatory myopathies including polymyositis, dermatomyositis, inclusive myositis and a more recently described entity, autoimmune necrotizing myopathy. Unlike the former, histologically, autoimmune necrotizing myopathy is not inflammatory. It is often … [Read more]

  This paper described three members of an Italian family affected by tubular aggregate myopathy (TAM) and congenital miosis harboring a novel missense mutation in ORAI1. All patients had a mild, late onset TAM revealed by asymptomatic creatine kinase (CK) elevation and congenital miosis consistent with a Stormorken-like Syndrome, in the absence of thrombocytopathy. Muscle … [Read more]

  To describe the incidence and identify predictors of sudden death (SD), major conduction defects and sustained ventricular tachyarrhythmias (VTA) in myotonic dystrophy type 1 (DM1), this study retrospectively enrolled 1388 adults with DM1 referred to six French medical centres between January 2000 and October 2013. The authors confirmed their vital status, classified all deaths, … [Read more]

  GNE Myopathy (GNEM) is a progressive adult-onset myopathy likely caused by deficiency of sialic acid (SA) biosynthesis. This Phase 2, randomised, double-blind, placebo-controlled study evaluated the efficacy and safety of SA (delivered by aceneuramic acid extended-release (Ace-ER)) versus placebo as a treatment for GNEM. Dose-dependent increases in serum SA levels were observed. Supplementation with … [Read more]

Most myotilinopathy patients present with a dominant late onset distal phenotype and myofibrillar pathology, although the first MYOT mutation in a family reported to have LGMD phenotype. This paper reports a French family affected with a late onset proximal and distal muscle weakness and myofibrillar myopathy on muscle pathology, in which the siblings known to … [Read more]