Myology research highlights

The link between transdiaphragmatic pressure (TDP) and diaphragmatic thickening fraction (DTF) is a gold standard method for assessing diaphragmatic function that is not clearly established.  A team of French researchers and clinicians, including researchers from the Institute of Myology, analyzed the global and intra-individual link between these two criteria during a study including 14 healthy … [Read more]

An Italian study of 25 men aged between 18 and 40 with SMA or DMD investigated the effects of playing wheelchair hockey on quality of life, well-being and coping skills.  The results of this study show that:  this sport would have a positive impact on well-being;  the quality of life score is improved by 4.4 … [Read more]

An American study carried out in 90 children under three with SMA evaluated the interest of quantifying circulating neurofilaments (NF) to detect the disease and assess the response to different therapies. Its results show that:  circulating NF levels are particularly high during the first months period of life in children with SMA and reflect neuronal … [Read more]

Depending on cell types, clathrin assembles into plaques or produces spherical structures for some unknown reason, just as we do not know how this plasticity is controlled during differentiation.  Researchers at the Institute of Myology have sought to assess the link between the alternative splicing of CLTC gene exon 31 encoding the heavy chain of … [Read more]

The limb-girdle muscular dystrophies (LGMD) continue to be highly heterogeneous neuromuscular diseases, both in clinical and genetic terms. Exploring these disorders in Africa is not an easy process, due to the rarity of these conditions, but also because genetic tests for these conditions are still cruelly lacking on this continent. However, a team of Malian … [Read more]

The SARS-CoV-2 pandemic has disrupted hospital organisations, with respect to both care and clinical research. Physiotherapists essentially from the US and the UK report their experiencea and offer practical solutions: several clinical trials have been subject to arrangements allowing remote assessment, with the usual nurses, caregivers and/or physiotherapists acting as intermediaries; sometimes, it is a … [Read more]

Necrotising autoimmune myopathy (NAM) is caused by immune system deregulation. The inflammatory component is generally very low key, contrarily to the other types of autoimmune myositis. It is, to a large extent, associated with the presence of autoantibodies directed against SRP and/or HMG-CoA Reductase (HMGCR) proteins. An observation from Brazil relates the combination of NAM … [Read more]

German researchers have developed a new tool intended to visualise and measure muscle loss in patients with SMN1-gene proximal spinal muscular atrophy (SMA). Multispectral optoacoustic tomography (MSOT) is a non-invasive technique requiring a probe that is moved opposite different muscle mass. This technique was tested among 10 healthy volunteers and 10 patients with the different … [Read more]

Four European University Hospitals have joined forces to develop a new electrophysiological technique to explore, in a simple and reproducible manner, motor axonal excitability, a useful parameter in the diagnosis and follow up of many neuropathies. Named iMAX, this approach uses standard machines and does not require a specific algorithm. It has been successfully tested … [Read more]

The emotional weight and the burden of care affect the quality of life of caregivers of patients with Duchenne muscular dystrophy (DMD). An American team has developed a new tool based on a series of items already used for this disease in the context of PROMIS (Patient-Reported Outcome Measurement Information System): it was tested in … [Read more]