Myology research highlights

Congenital myopathies are a very heterogeneous group of neuromuscular diseases, classically characterised by their very early onset and a lack of symptomatic progression. Among them, myotubular myopathy is distinguished by its poor prognosis but also by the encouraging prospects brought by gene therapy in the canine model of the disease and the start of a … [Read more]

The thymus of Myasthenia gravis (MG) patients is very often abnormal and possesses all the characteristics of tertiary lymphoid organs such as neoangiogenesis processes, overexpression of inflammatory cytokines and chemokines, and infiltration of B lymphocytes leading to ectopic germinal center (GC) development. In order to develop an experimental MG model associated with thymic GCs, the … [Read more]

  This prospective, placebo controlled study investigated the humoral immune response to and safety of a tetanus revaccination in patients with myasthenia gravis or Lambert-Eaton myasthenic syndrome. Before and 4weeks after revaccination a blood sample and clinical outcome scores were obtained. Anti-tetanus IgG total, IgG1 and IgG4 titres were measured with an ELISA and disease-specific … [Read more]

  The aim of this research was to study impairments, activity limitations and participation restrictions due to upper limb involvement in people with four different types of neuromuscular disorders (NMD) – FacioScapuloHumeral Dystrophy (FSHD), Limb-Girdle Muscular Dystrophy (LGMD), Spinal Muscular Atrophy (SMA) and Duchenne Muscular Dystrophy (DMD) – and to investigate whether common or different … [Read more]

  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]