Blog Archives

  Tracheostomy, which many DMD patients undergo, is associated with certain complications. However its effect on prognosis is not known. The relationship between type of mechanical ventilation and survival at 12 years was evaluated in a prospective cohort of patients with Duchenne muscular dystrophy followed in a French reference center for Neuromuscular Diseases. Cox proportional-hazards … [Read more]

  Neurodegenerative disorders represent a wide group of diseases affecting the central and/or peripheral nervous system. Many of these disorders were described in the 19th century, but our genetic knowledge of them is recent (over the past 25 years). However, the continual discovery of disease-causing gene mutations has led to difficulties in the classification of … [Read more]

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]