Myology research highlights
RSS feedMyasthenia gravis in France seen through the national health data system prism
In order to assess the incidence and prevalence of myasthenia gravis in France, a group of researchers from Auvergne analyzed data contained in the national health data system (SNDS) : the study covered the period 2008-2018, 331 patients were identified in the SNDS, enabling us to extrapolate an incidence of 50 per million inhabitants per … [Read more]
CAR-T cell-based dual therapy successfully tested in refractory myasthenia gravis
In a Letter to the Editor, Chinese clinicians report the case of a 64-year-old myasthenic patient who benefited from CAR-T cells targeting both the BCMA and CD19 antigens: the patient had had a classic course of refractory myasthenia over the seven years since his diagnosis in 2016, a protocol of induced depletion of B lymphocytes … [Read more]
The value of eculizumab in refractory myasthenia gravis and a possible switch to ravulizumab
Japanese clinicians report their real-life experience of administering new anti-complementary molecules in a series of 36 adults with a refractory form of myasthenia gravis (3% of a total cohort of 1,106 myasthenic patients): the 36 patients concerned had received eculizumab (Soliris®) as first-line treatment for an average of 35 months, clinical benefit was observed in … [Read more]
New techniques improve the diagnostic yield of high-throughput sequencing in neuromuscular diseases
Australian geneticists report on their experience in using more sophisticated high-throughput sequencing techniques (NGS for next-generation sequencing) or transcriptomic studies in the context of a molecular diagnostic laboratory for neuromuscular diseases: faced with the negativity of conventional whole exome sequencing (WES) or gene panel studies in certain patients, the authors used either RNASeq or whole … [Read more]
When the benefits of hot baths in DMD are revisited
Brazilian physiotherapists have studied variations in physiological parameters in patients with Duchenne muscular dystrophy (DMD) in a seated position, in an aqueous environment or in an aerial environment: 16 DMD patients took part in an experiment in two different environments, measuring energy expenditure (in particular, oxygen consumption) and other vital parameters (functional capacity, heart rate), … [Read more]
Inhibition of a cardiac microRNA improves fibrosis and function in a mouse model of DMD
American and South Korean researchers have studied the myocardial dysfunction observed in Duchenne muscular dystrophy. Their work involved a transgenic mouse with a combined but partial dystrophin and utrophin (mdx/utrn (+/-)) deficiency: an inhibitory microRNA was delivered to the animal via an AAV (adeno-associated virus) type 9 (AAV9) to counter the effects of miRNA25, an … [Read more]
Newborn screening for DMD as seen by various stakeholders
Australian researchers wanted to know how newborn screening (NBS) for Duchenne muscular dystrophy (DMD) would be perceived at a time when innovative, supposedly effective therapies are being announced: 50 caregivers and 26 healthcare professionals took part in a survey, the vast majority (80%) said they were in favor of screening, even if few knew the … [Read more]
Preserving oral health when taking anti-CD20 drugs
A team from Nice University Hospital reports: a series of six patients aged 34 to 79 who presented with oral disorders (pain, dental abscess or fracture, periodontitis…) 10 days to two years after starting anti-CD20 therapy (rituximab or ocrelizumab) for autoimmune myasthenia, multiple sclerosis or neuromyelitis optica ; the Vigibase worldwide pharmacovigilance database has recorded … [Read more]
SMA with 4 copies of SMN2, a form with infantile onset?
A study of data from 268 patients with 4 copies of the SMN2 gene from the SMArtCARE registry showed : an average age of first symptoms of 6.4 years, 55% of patients present their first symptoms before the age of 3 and almost 95% are symptomatic by the age of 18, 3% have never acquired … [Read more]
Prevalence of epilepsy in dystrophinopathies revised downwards
According to a retrospective study carried out in Spain on data from 416 patients with Duchenne muscular dystrophy, Becker muscular dystrophy or asymptomatic hyperCKemia : the prevalence of epilepsy was 1.4%, much lower than estimated by various previous studies (3.1% to 7.9%), but slightly higher than in the general population (0.5 to 1% in children … [Read more]
