Neuromuscular disorders (in general)
RSS feedAn 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]
