Myology research highlights
RSS feedBritish study points to high frequency of urinary incontinence in dystrophinopathies
Dystrophinopathies represent the largest group of neuromuscular diseases. Duchenne muscular dystrophy (DMD) is the most severe form compared to Becker’s muscular dystrophy (BMD). It results in a muscle deficit that begins proximally and is complicated by loss of walking around 10-12 years of age, restrictive respiratory failure and then cardiomyopathy. Advances in management have increased … [Read more]
Risdiplam: a third medicine authorised in the United States for type 1, 2 and 3 SMA, for children 2 months of age or older and for adults of all ages
On 7 August 2020, Roche/Genentech PTC Therapeutics announced that risdiplam had been granted marketing authorisation for type 1, 2 and 3 SMA in the United States, under the commercial name of Evrysdi™. Evrysdi™ is an oral treatment that can be administered from the age of 2 months and to all ages, regardless of disease progression. … [Read more]
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]
