Blog Archives
Efficacy of rituximab in refractory or corticosteroid-dependent myasthenia gravis, a real-life study
Myasthenia gravis is characterized by dysfunction of the neuromuscular junction. Its manifestations are refractory to the usual treatments (anticholinesterase drugs, corticosteroids, etc.) in 15% of cases. Rituximab, an anti-CD20 monoclonal antibody, therefore constitutes a second-line therapeutic alternative. Several case publications or case series support this option. In an article published in June 2020, a French … [Read more]
AI for diagnosis and understanding of idiopathic myositis
Machine learning is gradually revealing its potential in neuromuscular diseases. A Hispanic-American team recently used this artificial intelligence technology to characterize the gene expression profile specific to each type of inflammatory myopathy in muscle biopsies. The study included 49 patients with autoimmune necrotizing myopathy, 39 with dermatomyositis, 8 with antisynthetase syndrome and 13 with sporadic … [Read more]
The benefit of ERT in Pompe disease is confirmed by longitudinal data from the French registry and the international database
Two studies published in June 2020 were based on data from a register and a database set up in Pompe disease, one in France (in 158 adults), the other internationally. (in 396 adults), to assess the long-term effects of treatment with enzyme replacement therapy (ERT). In both cases, the studies confirm the long-term efficacy of … [Read more]
rAAVrh74.MCK.micro-dystrophine administration in 4 boys with DMD results in dystrophin production and has a functional effect
The results of a phase I / II clinical trial still underway in the USA which evaluates the safety and efficacy of rAAVrh74.MCK.micro-dystrophin (SRP-9001), a gene therapy product developed by Sarepta Therapeutics, were published in the journal JAMA Neurology on June 15, 2020. This trial has so far included 4 boys aged 4 to 6 … [Read more]
CMT: Expert consensus on the management of deformities of the feet and ankles
Hereditary sensory-motor neuropathies (HSMN also described as Charcot-Marie-Tooth disease or CMT) are characterized, in addition to their great genetic heterogeneity (more than 80 genes involved), by a predominantly distal muscle deficit and sensory disorders of very variable intensity. Orthopedic deformities, especially of the feet, are very often reported (hollow foot, varus foot, or a combination … [Read more]
Long-term benefit of ERT in adults with Pompe disease
Pompe disease is caused by a mutation in the GAA gene, which codes for acid alpha-glucosidase. The standard treatment is enzyme replacement therapy (ERT), which consists in providing a recombinant enzyme to compensate for the lack of acid alpha-glucosidase (Myozyme®). More than 90% of patients diagnosed in France are adults. Since the commercialization of enzyme … [Read more]
In dystrophic mdx mouse, desmin prevents muscle wasting, exaggerated weakness and fragility and fatigue
Duchenne muscular dystrophy (DMD) is a serious neuromuscular disease caused by a dystrophin deficiency. Desmin, like dystrophin, is associated with costameric structures connecting the sarcomeres to the extracellular matrix which contributes to muscle function. In this study, French experts including researchers from the Institute of Myology tried to provide additional information on the roles of … [Read more]
miR-379 links glucocorticoid therapy to mitochondrial response in DMD
Duchenne muscular dystrophy (DMD) is a lethal muscle disease caused by mutations in the DMD gene. It affects around 1 in 5,000-6,000 boy births. In this report, the authors identified a deregulation of members of the miRNA Dlk1-Dio3 cluster in muscle biopsies of the GRMD dog model. Among these, they selected miR-379 to be analyzed … [Read more]
CMT and pregnancy : a study conducted in Germany confirms scarcity of complications
Charcot-Marie disease (or CMT) is one of the hereditary sensory-motor neuropathies. It is the most common neuromuscular disease with an estimated prevalence of 1/2500 individuals. It causes motor disorders, more distal than proximal, sometimes very disabling, but also sensory disorders most often in the background. CMT remains extremely heterogeneous both clinically and genetically with more … [Read more]
What is the purpose of the exon 31 in the modelling of clathrin structures in muscle cells? – Interview with S. Vassilopoulos
Interview with Stéphane Vassilopoulos, researcher at the Muscle Organization & Therapy of Dominant Centronuclear Myopathy laboratory in Team 2 at the Institute of Myology Research Centre, headed by Marc Bitoun. He and his group are interested in the muscle cell membrane proteins, and more particularly in clathrin and its involvement in myopathies and just published … [Read more]
