Myology research highlights
RSS feedCAP2: a new gene responsible for nemaline myopathy
American researchers have identified, for the first time, a pathogenic variant of the CAP2 gene present in a heterozygous state in a sporadic form of nemaline myopathy. The child presented with neonatal onset hypotonia and, above all, very severe dilated cardiomyopathy: the CAP2 gene encodes a cyclase-binding protein (cyclase-associated-protein type 2), functional studies have confirmed … [Read more]
Idiopathic inflammatory myopathies: links between interstitial lung disease and myositis-specific autoantibodies
One of the most common extramuscular manifestations of idiopathic inflammatory myopathies is interstitial lung disease. In addition, the diagnosis of IMI includes the search for myositis-specific autoantibodies. In this study, a team of French researchers and clinicians involving experts from the institute, included 257 patients with idiopathic inflammatory myopathies followed between 2003 and 2019. After … [Read more]
Evaluation of a reference method to assess the function of the diaphragm
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]
Benefits of wheelchair hockey identified in SMA and DMD
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]
Circulating neurofilaments: a sensitive biomarker in SMA
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]
Alternative splicing helps control the plasticity of clathrin structures
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]
A first survey of limb-girdle muscular dystrophy in Mali
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 assessment of neuromuscular disease patients by physiotherapists is adapting to pandemic conditions
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]
A case of necrotising autoimmune myopathy with inflammatory skin lesions
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]
A new non-invasive biomarker in SMA
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]
