Blog Archives
The evolution of the new Morimoto-Ruy-Malicdan syndrome described in two brothers
In a previous study published in 2024, Marie Morimoto et al. described nine cases of a new congenital myopathy linked to biallelic variants of the RFC4 gene, the Morimoto-Ruy-Malicdan syndrome. This syndrome is characterised by coordination problems, muscular and respiratory weakness, hearing impairment, weight loss and cerebellar atrophy. A new study of two brothers of … [Read more]
Towards a reassessment of certain contraindications to the use of drugs in autoimmune myasthenia gravis
American researchers have investigated the possible complications associated with the use of several classes of antibiotics known to be harmful to myasthenia gravis patients: data from patients followed between 2002 and 2022 in Cleveland (USA) and taking ciprofloxacin, levofloxacin (both fluoroquinolones) or azithromycin, were analysed retrospectively. The main endpoint was the occurrence of decompensation of … [Read more]
The association of dermatomyositis and encephalopathy is exceptional but should be noted
Mexican clinicians report the clinical and immunological data of three patients with concomitant encephalopathy and dermatomyositis (DM): the three patients were adults in their fifties with no previous history of the disease, all met the criteria for dermatomyositis, including the presence of myositis-specific antibodies (in particular MDA5, Mi2 and TIF1g), the clinical picture included sub-acute … [Read more]
Rising incidence of motor neurone disease in France before the Covid-19 crisis
Using data from the French National Health Data System (SNDS), a French team has carried out a study of changes in the incidence of motor neurone disease between 2010 and 2023. During this period, 30,028 new cases of motor neurone disease were recorded, with an average of 2,145 new cases per year. The crude incidence … [Read more]
No additional long-term beneficial effects for the bisoprolol-perindopril combination
British clinicians report the long-term results of a prophylactic treatment for cardiomyopathy in Duchenne muscular dystrophy (DMD): the combination of perindopril (a conversion enzyme inhibitor) and bisoprolol (a beta-blocker) had already been the focus of an initial randomised clinical trial by the same team in 2011 in children with DMD aged between 5 and 13 … [Read more]
Advances in myasthenia gravis – 2025
This document presents a selection of myasthenia gravis research news stories from the past year (ongoing observational studies and clinical trials, scientific and medical publications…). Access the document Advances in myasthenia gravis – 2025
Variable severity of SMA in patients with four copies of the SMN2 gene
A study published using data from the SMA France register, set up in 2020, shows a wide variety of phenotypes in patients with SMN1-related proximal spinal muscular atrophy (SMA) with homozygous deletion of the SMN1 gene and four copies of the SMN2 gene, sometimes more severe than expected. As of May 2023, 1,112 patients were … [Read more]
Towards conditional authorisation of givinostat in Europe for walking DMD patients aged 6 and over on corticosteroids
Givinostat, a histone deacetylase (HDAC) inhibitor that acts on muscle fibrosis and inflammation in Duchenne muscular dystrophy, should be authorised in Europe very soon, under the name Duvysat™ (it has been authorised in the United States since March 2024). The application submitted to the EMA by the Italfarmaco laboratory was examined by the Committee for … [Read more]
A new non-invasive biomarker for investigating demyelinating neuropathies
An international consortium led by researchers in Nantes has developed and studied in real life a new non-invasive method for demyelinating neuropathies such as CMT1A, CIDP and anti-MAG neuropathy: shear wave elastography is a non-invasive ultrasound method based on changes in the composition and remodelling of nerve tissue in these degenerative diseases. 20 adult patients … [Read more]
A model to predict the distance covered during the 6MWT in Pompe disease
Researchers from the Laboratory of Physiology and Neuromuscular Evaluation at the Institute of Myology have developed and validated predictive models for the performance of the 6-minute walk test (6MWT) in Pompe disease, using simpler, less demanding tests. In fact, the 6MWT, which is commonly used to assess functional capacity in neuromuscular diseases, can prove difficult … [Read more]
