Blog Archives
Creatine phosphokinase and creatine levels decrease with corticosteroid therapy in DMD
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]
Telemedicine and Covid19 : a rather positive change in practices
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]
Proprioceptive and vestibular damage contributes to falls in DM1
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]
Contrasting results of two cell therapies targeting DMD in animals
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]
Proximal myopathy due to beta-galactosidase deficiency: a case report
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 would be less harmful to bones and growth than prednisone in DMD, while having the same functional effectiveness
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]
Different seropositivity profiles depending on the AAV
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]
Inflammatory myopathies: a review of mouse models
Classical mouse models of experimental myositis were developed by immunising the animal with muscle-specific antigens, myosin or skeletal C protein. More recently, new mouse models of myositis with specific antibodies have emerged and will help to better understand the role of these myositis-specific antibodies: a model of the anti-synthetase syndrome was obtained by immunisation with … [Read more]
A review of the year 2022 with the AFM-Téléthon
The year 2022 has just drawn to a close, carried by the slogan “We will not give up”, which has enabled AFM-Telethon to celebrate its greatest victories and to continue the fight for all those whose disease remains untreated. 2022 also saw new advances in research in several diseases, the organization of a major international … [Read more]
2023, every gesture counts
Dear patients and their families, Dear donors, Dear partners, All the teams and collaborators of the Institute of Myology send you their best wishes for happiness and success and wish you excellent health. May this new year, full of promise, be synonymous with progress and success and enable us to accomplish the projects we cherish. … [Read more]
