Blog Archives
A newly distal hereditary motor neuropathy caused by a rare AIFM1 mutation
In two siblings, who suffer from an early childhood-onset axonal polyneuropathy with exclusive involvement of motor fibers, the c.629T>C (p.F210S) mutation was identified in the X-linked AIFM1 gene, which encodes for the apoptosis-inducing factor (AIF). The mutation was predicted as deleterious, according to in silico analysis. A decreased expression of the AIF protein, altered … [Read more]
Female carriers of myotubular myopathy: a varied and frequent symptomatology
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]
Toll-like receptor signalling and ectopic lymphoid development in Myasthenia Gravis
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]
Pierre Klein awarded 3 prizes
Pierre Klein, a former PhD student at the Institute of Myology, has been awarded 3 prizes within the space of a few months. Pierre Klein defended his thesis in 2016 and his research has just been distinguished by the Louis Forest Prize in Life Sciences, Chancellor of the Universities of Paris, an institution whose mission … [Read more]
Humoral immune response to and safety of tetanus revaccination in myasthenia gravis
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]
Different profiles of upper limb function in four types of neuromuscular disorders
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]
Timing and localization of human dystrophin isoform expression provide insights into the cognitive phenotype of Duchenne muscular dystrophy
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]
Centronuclear myopathy linked to the RYR1 gene: an emerging form of congenital myopathy
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]
Progression of Duchenne cardiomyopathy presenting with chest pain and troponin elevation
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]
Corticosteroids in DMD: impact of the motor function measure
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]
