Blog Archives

A cross-sectional study was conducted in June 2019 by the French pediatric “NIV/CPAP” network, which brings together 27 pediatric academic centers in 24 French cities. Published in 2021, it involved 1447 children treated with long-term noninvasive ventilation (NIV) or continuous positive airway pressure (CPAP) for at least 3 months as of June 1, 2019. Its … [Read more]

Israeli clinicians report a highly original observation of a child diagnosed with Duchenne muscular dystrophy (DMD) at the age of 18 months, but whose cardiological evaluation at that time revealed a hypertrophic cardiomyopathy. The very early onset of the cardiomyopathy and its hypertrophic character are unusual. The genetic study of the DMD gene revealed a … [Read more]

American researchers studied over one year the variations of creatine phosphokinase (CPK) and creatine levels in a cohort of children and adolescents with Duchenne muscular dystrophy (DMD) receiving long-term glucocorticoids: 555 DMD patients were included in the study. CPK levels, blood and urine creatine levels, and the ratio of creatinineuria to urine osmolarity were measured … [Read more]

The recent SARS-CoV-2 pandemic has led to significant changes in the doctor-patient relationship, thanks in particular to new remote medicine technologies. The European Network of Excellence for Neuromuscular Diseases (Euro-NMD) has conducted a dedicated survey among its members: 42 centers out of the 76 that belong to the network responded to the survey, all of … [Read more]

The balance and gait disorders in Steinert disease (or myotonic dystrophy type 1, DM1) have a multifactorial origin. While muscular damage contributes (in particular weakness of the leg muscles), sensory damage could also be involved. An Italian team compared balance in 16 DM1 patients and 40 control patients. They showed that there was proprioceptive and … [Read more]

Two articles from two independent groups, Japanese and Korean, illustrate the difficulties faced in preclinical studies of cell therapy in Duchenne muscular dystrophy (DMD): the Japanese study demonstrates, in both the mouse and rat models of DMD, that intraperitoneal or transplacental transplants of myoblasts or stem cells of mesenchymal origin do not take place, even … [Read more]

The manifestations of beta-galactosidase deficiency range from Morquio syndrome type B (mucopolysacharidosis type IVB manifesting as spondyloepiphyso-metaphyseal osteodysplasia) to GM1 gangliosidosis (a more or less early neurodegenerative disease). A Danish team describes for the first time the case of a young woman with limb-girdle myopathy without neurological damage or bone abnormalities, due to recessive mutations … [Read more]

Vamorolone, a dissociative synthetic steroid, co-developed by ReveraGen and Santhera, has been evaluated for its anti-inflammatory effects in Duchenne muscular dystrophy (DMD) in two trials. The first trial evaluated two oral doses of vamorolone (2 and 6 mg/kg/day) for 30 months in 46 DMD boys aged 4 to 7 years after a dose escalation phase … [Read more]

Gene replacement therapies for Duchenne muscular dystrophy (DMD) are based on viral vectors such as AAV (adenovirus-associated virus). An American study carried out on 101 DMD patients shows that : in this cohort, the median age was 11 years, 48% of patients were still walking at the time of the study and 59% were on … [Read more]