Neuromuscular disorders (in general)
RSS feedThe French Cannemuss study confirms the efficacy of anti-Covid-19 messenger RNA vaccines in cases of amyotrophy
As the Covid-19 booster vaccination campaign gets underway in France, a new publication of the results of the Cannemuss observational study (supported by the AFM-Téléthon and carried out by Bordeaux University Hospital) shows that : 90.1% of the 33 participants suffering from various neuromuscular diseases that had induced severe muscular atrophy had a serum level … [Read more]
New tools for assessing the follow-up of two forms of muscular dystrophy
Monitoring, either as part of the usual follow-up of patients with muscular dystrophy or as part of clinical trials, is largely based on the use of functional scores: researchers report, in association with Duchenne muscular dystrophy (DMD) patient associations, the development of an upper limb function scale centred on the needs and feelings of patients … [Read more]
An unusual phenotype in a case of Sheldon-Hall syndrome
Sheldon-Hall syndrome (SHS) is an ultra-rare genetic disease usually characterised by congenital arthrogryposis of autosomal dominant transmission. Researchers at the neuromuscular reference centre at the Hôpital Raymond Poincaré in Garches have identified a patient with SHS presenting with : a whole-body muscle imaging study showed no signs of primary muscle involvement, on the other hand, … [Read more]
Several drug candidates for giant axon neuropathy
An initial French study, supported by the AFM and using zebrafish models of giant axon neuropathy (GAN), has identified new drug candidates: Using pharmacological screening to identify small molecules that can restore both physiological and cellular deficits in the animal model. High-resolution behavioural, computational and imaging analyses enabled the researchers to select five drug candidates. … [Read more]
Artificial intelligence for the interpretation of muscle biopsy images
Quantifying the number and size of muscle fibres remains a complex, repetitive and time-consuming task. It is hampered, in particular, by the low resolution of biopsy images. French engineers and biologists have developed a new artificial intelligence (AI) tool to try to remedy this. MyoSOTHES is a tool derived from the fusion of two algorithms … [Read more]
