Myology research highlights
RSS feedA new genomic sequencing technique for the diagnosis of FSH
The molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD) is challenging due to the existence of complex alterations in the 4qter chromosomal region and the genetic heterogeneity of the disease (FSHD1, FSHD2). Hypomethylation, which also plays an important role in the pathophysiology of this condition, is difficult to measure routinely. A new technology, based on the … [Read more]
Fibrodysplasia ossificans progressiva (FOP): proof of concept of gene therapy in mice
An American team has successfully tested the transfer of the ACVR1 gene, the transfer of an allele-specific silencing microRNA ACVR1R206H, and the combination of both. Gene therapy in human iPS cells of FOP abolishes activin A signalling and aberrant osteogenic and chondrogenic differentiation. Local treatment of traumatic heterotopic ossifications in adult mouse models of FOP … [Read more]
Higher 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]
