Myology research highlights

The Healthcare cost and utilization project, nationwide inpatient sample (HCUP-NIS) database includes information on more than 7 million hospital stays in the United States each year. A Canadian team used it to conduct a retrospective cohort study (2005 – 2015) of nearly 10 million deliveries, including 974 women with myasthenia gravis. This disease of the … [Read more]

Researchers from the University of Montpellier, supported by the AFM-Telethon, have shown that muscle cell damage in oculopharyngeal muscular dystrophy (OPMD) is mediated by overactivation of the proteasome leading to muscle protein degradation, rather than by the accumulation of mutated PABPN1 proteins. They then provided proof of concept in Drosophila larvae that proteasome inhibitors, such … [Read more]

A new form of bulbospinal muscular atrophy has just been described by Iranian clinicians in 4 patients: it is an SBMA linked to the UBA1 gene. It is therefore distinct from Kennedy’s disease, which is an SBMA linked to the AR gene (the authors speak of non-Kennedy SBMA). The UBA1 gene is located on chromosome … [Read more]

Analysis of data collected by the German-speaking SMArtCARE observatory of 143 patients under 18 years of age with early-onset SMA who had not acquired sitting before starting nusinersen (Spinraza®) showed that: 88 children started nusinersen before the age of 2 years with a follow-up of 23.3 ± 12.9 months (cohort 1a), and 55 after the … [Read more]

The AFM-Telethon and its laboratory Genethon are delighted with the treatment of the first patient included in the European gene therapy trial for limb-girdle muscular dystrophy linked to the FKRP gene (LGMD2I/R9). This is a major step, the result of 30 years of excellence in research led by Isabelle Richard, head of the Progressive Muscular … [Read more]

An I-STEM team identified moxifloxacin for its ability to increase SMN protein production in a cell-based model screen of already marketed molecules. Administered daily subcutaneously to mouse models of SMN1-related proximal spinal muscular atrophy (SMA), this quinolone antibiotic : increases SMN protein production in the spinal cord and skeletal muscle, improves the function of neuromuscular … [Read more]

Corticosteroids prescribed from the age of 4 to 5 years in Duchenne muscular dystrophy enable the loss of walking to be delayed by at least 2 years and protect the respiratory function in particular. But between prednisone/prednisolone and deflazacort, the question remains: which one to prescribe? A review of the literature analysed publications involving hundreds … [Read more]

In a study published in May 2022, a Turkish team carried out a measurement of muscle strength and a functional evaluation of motor performance in 19 patients with Duchenne muscular dystrophy, randomly divided into a group performing exercises in tele-rehabilitation and a control group limited to doing the same exercises following videos. The exercises proposed … [Read more]

A clinical trial of 17 people with McArdle’s disease demonstrated the potential benefits of a 2-year training program targeting endurance and strength. Six of the 10 patients who completed the program became asymptomatic, while the others experienced an improvement in their symptoms. In the control group without exercise, the disease remained stable at best. Another … [Read more]

The diaphragmatic muscle is a key muscle in Pompe disease, which causes its dysfunction due to a toxic accumulation of glycogen. Dutch researchers studied this respiratory muscle in 30 patients with Pompe disease, treated or not, at a one-year interval, by imaging (3D MRI), the data obtained being compared to those of a control group. … [Read more]