Myology research highlights
RSS feedNeurodevelopmental disorders quantified in DMD
While the impact of Duchenne muscular dystrophy (DMD) on patients’ cognition is well known, an Italian team focused specifically on the prevalence of neurodevelopmental disorders in these patients. A retrospective analysis of the clinical characteristics and psychological assessments of 264 boys (aged six years or older) and men with DMD yielded the following results: nearly … [Read more]
The added value of artificial intelligence in myasthenia gravis remains to be confirmed
Taiwanese researchers conducted an exhaustive analysis of the literature on artificial intelligence (AI) tools in the context of predictive factors at certain stages of myasthenia gravis: a PRISMA-type approach was used to select 11 studies, which focused on prediction tools based on machine learning algorithms, with particular attention paid to admission to intensive care, length … [Read more]
An alternative to statin use in cases of immune-mediated necrotising myopathy
Italian clinicians report the results of a study on the use of a new molecule, bempedoic acid, which has lipid-lowering properties but does not carry the risk of developing immune-mediated necrotising myopathy (IMNM): 10 patients with IMNM positive for anti-HMGCR autoantibodies were included in an open-label study. All had received prednisone and immunosuppressants to control their … [Read more]
A case immune-mediated necrotising myopathy associated with tuberculosis
An Italian team reports a case of autoimmune necrotising myopathy occurring in the context of active tuberculosis in a 38-year-old migrant: the patient, originally from Bangladesh, had arrived in Italy via the Balkan route, he presented with the classic signs of active pulmonary tuberculosis but also with severe myalgia that had been developing for several … [Read more]
A plea for neonatal screening for DMD
In a comprehensive article, American specialists analyse practices and prospects for newborn screening for Duchenne muscular dystrophy in the United States: this screening is technically feasible and is based on creatine phosphokinase (CPK) testing in the first days of life, confirmed by DMD gene testing, from August 2023, the Federal Committee responsible for proposing recommendations … [Read more]
Improvement in motor function with Evrysdi® in presymptomatic SMA
Approved for spinal muscular atrophy (SMA), the efficacy of Evrysdi® in presymptomatic forms remained uncertain. In the international RAINBOWFISH open-label trial, 26 genetically diagnosed infants received Evrysdi® for two years within the first six weeks of life before the onset of symptoms. After 12 months of daily oral treatment, 81% of infants could sit unaided … [Read more]
Long-term IV immunoglobulins may reduce the incidence of cancer
According to an analysis of follow-up data from 436 patients with autoimmune myasthenia gravis (MG) and 102 with chronic inflammatory demyelinating polyradiculoneuritis (CIDP), receiving intravenous immunoglobulin (IVIg) as maintenance therapy: is associated with a reduction in the incidence of cancers occurring at least one year after diagnosis. this decrease correlates with the duration of IVIg … [Read more]
The SMA France Registry for collecting real-life or long-term data
As of 22 July 2024, the SMA France Registry had collected data from 1,259 people with spinal muscular atrophy (SMA) through 59 participating reference centres, with: the vast majority of patients presenting with a homozygous deletion of the SMN1 gene, a higher proportion of SMA type II (502 patients) and type III (469 patients), innovative … [Read more]
Sustainable cardioprotection with utrophin in DMD
Scientists have evaluated a gene therapy based on micro-utrophin, a protein similar to dystrophin, which is deficient in Duchenne muscular dystrophy (DMD). This therapy was administered to mice models of the disease, exposed to pharmacological and exercise-related stress. The therapy provided protection against cardiac damage, as evidenced in particular by a decrease in troponin levels. … [Read more]
Two new treatment approaches for progressive ossifying fibrodysplasia
An ultra-rare disease, fibrodysplasia ossificans progressiva (FOP) results from gain-of-function mutations in the ACVR1 or ALK2 gene, which lead to the formation of heterotopic ossifications. Preclinical results (particularly in mouse models) published in June 2025 show that these ossifications are prevented by oral administration of: RK783, a molecule identified during the screening of 140,000 molecules … [Read more]
