Neuromuscular disorders (in general)
RSS feedUS recommendations on the use of immunoglobulins in MNM
Immunoglobulins are still widely prescribed for certain neuromuscular diseases of autoimmune origin, despite the absence of irrefutable scientific evidence. The scarcity of this type of pharmaceutical product has prompted American doctors to reflect on their proper use in neuromuscular diseases: the initial consensus drawn up in 2009 by the American Association of Myology (AANEM) was … [Read more]
The 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]