Myology research highlights
RSS feedNusinersen improves survival and motor function in infantile-onset SMA
Spinal muscular atrophy is an autosomal recessive neuromuscular disorder that is caused by an insufficient level of survival motor neuron (SMN) protein. Nusinersen is an antisense oligonucleotide drug that modifies pre-messenger RNA splicing of the SMN2 gene and thus promotes increased production of full-length SMN protein. This randomised, double-blind, sham-controlled, phase 3 trial evaluated the … [Read more]
Lamotrigine effectively reduces myotonia in patients with non-dystrophic myotonia
Mexiletine is the only drug with proven effect for treatment of non-dystrophic myotonia, but mexiletine is expensive, has limited availability and several side effects. There is therefore a need to identify other pharmacological compounds that can alleviate myotonia in non-dystrophic myotonias. Like mexiletine, lamotrigine is a sodium channel blocker, but unlike mexiletine, lamotrigine is … [Read more]
Safety and efficacy of eculizumab in patients with anti-acetylcholine receptor antibody-positive refractory generalised myasthenia gravis
Complement is likely to have a role in refractory generalised myasthenia gravis, but no approved therapies specifically target this system. Results from a phase 2 study suggested that eculizumab, a terminal complement inhibitor, produced clinically meaningful improvements in patients with anti-acetylcholine receptor antibody-positive refractory generalised myasthenia gravis. This study further assessed the efficacy and … [Read more]
Neuroimaging and clinical evaluation in infantile Pompe disease
Recombinant human acid α-glucosidase (rhGAA) enzyme replacement therapy (ERT) has prolonged survival in infantile Pompe disease (IPD), but has unmasked central nervous system (CNS) changes. In this study, brain imaging, consisting of computed tomography (CT) and/or magnetic resonance imaging (MRI), was performed on 23 patients with IPD (17 CRIM-positive, 6 CRIM-negative) aged 2-38 months. … [Read more]
Exon skipping for DMD: role of myoblasts and macrophages
Exon skipping is a promising therapeutic strategy for Duchenne muscular dystrophy (DMD), employing morpholino antisense oligonucleotides (PMO-AO) to exclude disruptive exons from the mutant DMD transcript and elicit production of truncated dystrophin protein. Clinical trials for PMO show variable and sporadic dystrophin rescue. Here, the authors show that robust PMO uptake and efficient production … [Read more]
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]
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]
