Myology research highlights
RSS feedHigher incidence of gastrointestinal cancer in FSHD?
A small-scale study involving 31 adults with FSH and 30 without showed, with regard to extra-muscular manifestations: the incidence of gastrointestinal cancer (gastric or colorectal) would be higher in FSH, from the age of 40 years, and not dependent on the length of the D4Z4 repeats, an absence of significant difference for other, non-gastrointestinal cancers … [Read more]
Depression and anxiety are common and under-diagnosed in autoimmune myasthenia gravis
The results of a study conducted in Germany among 1,399 patients with autoimmune myasthenia and 1,042 of their caregivers show : the high frequency of depression (30.8%) and anxiety (35.5%) in the Hospital Anxiety and Depression Scale (HADS) questionnaire and their under-diagnosis; treatment was more often by medication (57.8%) than by psychotherapy (35.5%); a negative … [Read more]
Non-invasive ventilation in children in France: focus on neuromuscular diseases
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]
An unusual case of early cardiac involvement of multi-factorial origin in DMD
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]
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]
