Myology research highlights
RSS feedMyositis with interstitial lung disease: arguments to better consider lung transplantation
A retrospective analysis of 64 lung transplants performed by 19 expert centers in Europe (including France) in adults with myositis complicated by interstitial lung disease shows: a survival rate of 78% at one year after transplantation, 73% at 3 years and 70% at 5 years, i.e. figures similar to those of transplant recipients with another … [Read more]
Pregnancy in a woman with myasthenia gravis, a risky situation
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]
Inhibiting the proteasome to treat OPMD
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 non-Kennedy SBMA linked to the UBA1 gene
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]
Early-onset SMA: a German real-life study of children treated with nusinersen
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]
FKRP Limb-girdle muscular dystrophy : 1st patient treated in the European gene therapy clinical trial
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]
Moxifloxacin, an antibiotic of interest in SMA
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]
A review of the literature compares prednisone and deflazacort in DMD and favours the latter in the short term, while in the long term their effects are similar
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]
What alternative to face-to-face rehabilitation in DMD?
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]
McArdle: clinical trial proves benefits of exercise
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]
