Myology research highlights

  Duchenne muscular dystrophy (DMD) is a muscular dystrophy with high incidence of learning and behavioural problems and is associated with neurodevelopmental disorders. To gain more insights into the role of dystrophin in this cognitive phenotype, the authors performed a comprehensive analysis of the expression patterns of dystrophin isoforms across human brain development, using unique … [Read more]

Congenital myopathies are a very heterogeneous group of neuromuscular diseases. Despite the early onset of symptoms and stable course that they have in common, their clinical expression is highly variable. The number of genes involved (whether dominant or recessive) continues to increase. The nosological frameworks of this vast set of pathologies were based on the … [Read more]

  Improved neuromuscular and respiratory therapies have altered the natural history of Duchenne muscular dystrophy (DMD) such that the most common cause of mortality is progressive cardiomyopathy. Despite imaging evidence of progressive cardiomyopathy, troponin I (cTn) is not significantly elevated in asymptomatic DMD patients. This study describes eight boys with DMD evaluated for acute chest … [Read more]

  This observational, multicentre cohort study explores the evolution of the motor function measure (MFM) over a 24-month period for 29 ambulant corticosteroids-treated and 45 ambulant untreated patients with DMD. Significant differences were found between mean MFM scores in corticosteroids-treated and untreated groups for domain 1 of the MFM (standing position and transfers; D1), domain … [Read more]

  Rapid diagnostic whole-genome sequencing has been explored in critically ill newborns, hoping to improve their clinical care and replace time-consuming and/or invasive diagnostic testing. A previous retrospective study in a research setting showed promising results with diagnoses in 57%, but patients were highly selected for known and likely Mendelian disorders. The aim of this … [Read more]

  Focal myositis are inflammatory muscle diseases of unknown origin. Contrary to the other idiopathic inflammatory myopathies, they are restricted to a single muscle or a muscle group. They are not associated with extramuscular manifestations, and they have a good prognosis in the absence of treatment. They are characterized by localized swelling affecting mostly lower … [Read more]

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]