Neuromuscular disorders (in general)
RSS feedNatural history of X-linked myopathy with excessive autophagy
X-linked myopathy with excessive autophagy (XMEA) is a little-known disease linked to the VMA21 gene. It leads to autophagy failure with progressive vacuolation and atrophy of skeletal muscles. The aim of this retrospective study, conducted by French teams including researchers and clinicians from the Institut de Myologie, was to define the clinical, radiological and natural … [Read more]
The use of home mechanical ventilation has increased over the last two decades
In order to assess the use of home mechanical ventilation, invasive or non-invasive, between 2000 and 2023, French and Belgian authors carried out a review of the literature: 32 studies with a total of 8815 children undergoing home ventilation were included; 37% of the children had a neuromuscular disease; over the past 24 years, the … [Read more]
Sleep disordered breathing in slowly progressive myopathies: beyond alveolar hypoventilation
A French retrospective study of the records of 149 adults with an average age of 46.5 years and suffering from myotonic dystrophy (45) , myasthenia (20), Pompe disease (9), spinal muscular atrophy (8), facioscapulohumeral myopathy (8), Duchenne myopathy (5), Becker myopathy (1) or another neuromuscular disease (53) explored by respiratory polygraphy, nocturnal transcutaneous capnography and … [Read more]
Publication of a review of the literature concerning neuromuscular complications in connection with vaccination against COVID-19
An Iranian team has carried out an exhaustive review of the literature to determine the extent and nature of neuromuscular complications linked, directly or indirectly, with the COVID-19 pandemic: from an initial extraction of 879 publications in several databases, 133 articles caught her attention, they corresponded to 258 individuals, including 171 cases of Guillain-Barré syndrome, … [Read more]
The relevance and accuracy of functional electrophysiological tests in canalopathies and myotonia
The team at the Tampere Reference Centre for Neuromuscular Diseases (Finland) examined the results of functional electrophysiological tests in 27 patients with canalopathy, myotonic dystrophy type 1 (DM1) or type 2 (DM2) : the most frequent symptoms were muscle weakness, myalgias, cramps and muscle stiffness, the median age at the time of functional electrophysiological testing … [Read more]
The Institute of Myology gives guidelines for physical activity in neuromuscular diseases
In a contribution to Médicosport-santé© published on the vidal.fr website, researchers and clinicians from the Institute of Myology report on what is known about physical activity in neuromuscular diseases: they have analysed the literature over the last 30 years and give recommendations for training by disease group (muscular dystrophies, idiopathic inflammatory myopathies, metabolic myopathies, mitochondrial … [Read more]
RhoA is a key regulator of myoblast fusion
Satellite cells (SCs) are adult muscle stem cells that are recruited when muscle homeostasis is disturbed. The RhoA GTPase is an important signalling enzyme involved in the rearrangement of the actin cytoskeleton and in the differentiation of myoblast lines. A team from the Institut Cochin in collaboration with researchers from the Institute’s Myology Research Centre … [Read more]
Gene therapy for gene-based myopathies: review of the literature and prospects
Gene therapy has emerged as a promising avenue in the search for effective treatments for patients with gene-based myopathies. This review of the dedicated scientific literature, carried out by two clinicians from the Institute of Myology, explores the use of viral vectors and in particular recombinant adeno-associated virus (rAAV) vectors as powerful tools for gene … [Read more]
Towards a consensus to establish new criteria for alveolar hypoventilation in children with neuromuscular disorders
A group of fifteen American experts met to share their experience in the field of alveolar hypoventilation, which is frequently observed in neuromuscular disorders in children: an analysis of the literature and the use of the Delphi method during discussions were used to try to reach a consensus, until now, the criteria for hypoventilation have … [Read more]
Recurrent compartment syndrome indicative of a genetically determined neuromuscular disease
Compartment syndrome is usually traumatic in origin, leading to muscle tissue damage with secondary necrosis, linked to hyperpressure and the resulting oedema. English and Dutch clinicians report the observations of three patients in whom the final diagnosis of genetic myopathy was made in this context: in one case, it was a myopathy with mutations in … [Read more]
