Myology research highlights
RSS feedThe 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]
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 natural history study of upper limb function in SMA type II
The Spanish network responsible for monitoring patients with SMN1-related proximal spinal muscular atrophy (SMA) retrospectively studied the evolution of upper limb function in SMA type II : 149 patients with type II SMA took part in the study, which consisted of measuring the Revised Upper Limb Module (RULM) functional score at regular intervals. The participants … [Read more]
Results of a European survey on the management of bone problems in neuromuscular diseases
The partial or total immobility caused by many neuromuscular diseases, whether or not associated with the deleterious effect of corticosteroid therapy, is often the cause of bone problems (osteoporosis, osteopenia, fractures, compression, etc.): The Euro-NMD neuromuscular reference network (ERN) has conducted a double survey on these complications, which are frequently encountered over the long term, … [Read more]
