Neuromuscular disorders (in general)
RSS feedRhoA 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]
A pilot project to detect and manage respiratory problems in pregnant women with neuromuscular disorders
The IT-NEUMA-Preg study was conducted in seven Italian hospitals between 2015 and 2022. Of the 94 pregnant women included : 24 were found to be at risk of developing respiratory disorders likely to have an impact on the pregnancy in progress or in the postnatal period, these women were able to benefit from prevention of … [Read more]
When a smartphone app reliably assesses peak cough flow
A study carried out in Spain on 50 patients suffering from Charcot’s disease (n=26), autoimmune myasthenia (n=9) or genetic myopathy (n=15) shows that sound analysis of coughing, via a smartphone application developed by the Hiroshima Institute of Engineering (Japan) : reliably assesses the peak cough flow (PCF) measured with a flowmeter associated with an oronasal … [Read more]
Treatment of thymoma with immune checkpoint inhibitors increases the risk of muscle toxicity
An analysis of various registries and clinical trial data, carried out by an international team involving researchers from the Institute of Myology, revealed: 1,495 cases of myocarditis with immune checkpoint inhibitors in the World Health Organization’s VigiBase registry, a rare (around 1%) but potentially serious adverse event, a 10- to 30-fold greater risk of ICI … [Read more]
Pre-injection aerobic exercise increases the effectiveness of gene therapy
American researchers have investigated the benefits of a short, low-intensity physical activity session on the efficacy of gene therapy product transduction in mouse models of Barth syndrome. At six weeks, the mice were subjected to 30 min of aerobic exercise (treadmill) immediately followed by an intravenous injection of a dose of gene therapy (AAV9). Four … [Read more]
DREAMS – a new Horizon Europe project brings hope to rare disease patients
The objective of this 5-year project is to discover treatments for 5 rare neuromuscular disorders through a groundbreaking methodology combining Artificial intelligence (AI), stem cells and pharmacological screening. In a groundbreaking endeavour set to span five years, the DREAMS consortium is paving the way for a novel approach to treating neuromuscular diseases. This transformative project … [Read more]
Study identifies key criteria for optimum wheelchair adjustment
A study financed by the AFM-Téléthon sought to identify the main positioning criteria guaranteeing the health and quality of life of adult wheelchair users with type 2 proximal spinal muscular atrophy (SMA type 2) or Duchenne muscular dystrophy (DMD): The expert consensus study was conducted using the Delphi method, with the participation of 74 experts … [Read more]
