Myology research highlights
RSS feedAbout the economic interest of the compassionate use of innovative treatments
Italian researchers and a Roche laboratory representative jointly analyzed the economic impact of compassionate use protocols for some innovative health products: two of the eleven protocols studied concerned infantile spinal muscular atrophy (SMA) and risdiplam in particular, the others were linked to cancer and multiple sclerosis, the SMA protocols respectively concerned children with type 1 … [Read more]
A book to explain Duchenne muscular dystrophy to affected children
The team from the Marseille Neuromuscular Reference Centre has designed a small book for children with Duchenne muscular dystrophy (DMD). This didactic and abundantly illustrated work was given to nine children with DMD and their parents, within a variable period of time after the announcement of the diagnosis. Its usefulness has been the subject of … [Read more]
A pilot experiment in neonatal screening for primary carnitine deficiency
Chinese clinicians from Fujian province screened 49 cases of primary carnitine deficiency at birth using a biochemical technique (tandem mass spectrometry). This neuromuscular condition is indeed treatable by lifelong carnitine supplementation administered orally. In this study: screening involved 548,247 children born in the province between 2014 and 2021, the additional genetic tests following the confirmation … [Read more]
CAP2: 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]
