Blog Archives

A research team has succeeded in re-expressing normal collagen VI in cellular models of collagen VI-related myopathy. Abnormalities in one of the COL6 genes, COL6A1, COL6A2 or COL6A3 are at the origin of myopathies such as Ullrich congenital muscular dystrophy and Bethlem myopathy. These abnormalities lead to the absence or abnormal production of collagen VI, … [Read more]

  Juvenile dermatomyositis (JDM) may be complicated by life-threatening conditions requiring paediatric ICU (PICU) management. Here, the authors report on a retrospective study of JDM patients admitted to two French hospital PICUs, describing the causes, treatment and outcomes of these severe, little-known complications in order to improve their management. They found that primary JDM vasculopathy-related … [Read more]

  Myotubularins (MTMs) are active or dead phosphoinositides phosphatases defining a large protein family conserved through evolution and implicated in different neuromuscular diseases. Loss-of-function mutations in MTM1 cause the severe congenital myopathy called myotubular myopathy (or X-linked centronuclear myopathy) while mutations in the MTM1-related protein MTMR2 cause a recessive Charcot-Marie-Tooth peripheral neuropathy. Here, the authors … [Read more]

  This Phase 3 randomized trial tested the primary hypothesis that once-daily tadalafil, administered orally for 48 weeks, lessens the decline in ambulatory ability in boys with Duchenne muscular dystrophy (DMD). The primary efficacy measure was 6-minute walk distance (6MWD) after 48 weeks. Secondary efficacy measures included North Star Ambulatory Assessment and timed function tests. … [Read more]

  α-Dystroglycanopathies are a group of muscular dystrophies characterized by α-DG hypoglycosylation and reduced extracellular ligand-binding affinity. Among other genes involved in the α-DG glycosylation process, fukutin related protein (FKRP) gene mutations generate a wide range of pathologies from mild limb girdle muscular dystrophy 2I (LGMD2I), severe congenital muscular dystrophy 1C (MDC1C), to Walker-Warburg Syndrome … [Read more]

  This cross-sectional study that included an online survey and a prospective, 1-year longitudinal investigation using a phone survey aimed to define the natural history of X-linked myotubular myopathy (MTM). Consistent with existing knowledge, the authors found that MTM is a disorder associated with extensive morbidities, including wheelchair (86.7% nonambulant) and ventilator (75% requiring >16 … [Read more]

Mutations in RYR1 give rise to diverse skeletal muscle phenotypes, ranging from classical central core disease to susceptibility to malignant hyperthermia. Next-generation sequencing has recently shown that RYR1 is implicated in a wide variety of additional myopathies, including centronuclear myopathy. In this article, an international consortium of researchers, including experts from the Institute of Myology, … [Read more]

  Current enzyme replacement therapy with recombinant human (rh)GAA has demonstrated efficacy in subjects with late-onset Pompe disease. However, long-term effects of rhGAA on pulmonary function have not been observed, likely related to inefficient delivery of rhGAA to skeletal muscle lysosomes and associated deficits in the central nervous system. To address this limitation, reveglucosidase alfa, … [Read more]

Pompe disease is a lysosomal disorder due to the absence of an enzyme involved in glycogen metabolism. Genetically determined, it is an inherited autosomal recessive disorder and is characterised by myopathy overload and almost always, respiratory failure, amongst other symptoms. Infantile-onset, with a very early onset and poor prognosis (Pompe Disease), can be distinguished from … [Read more]