Blog Archives

Biomarkers are critically important for disease diagnosis and monitoring. In particular, close monitoring of disease evolution is eminently required for the evaluation of therapeutic treatments. Classical monitoring methods in muscular dystrophies are largely based on histological and molecular analyses of muscle biopsies. Such biopsies are invasive and therefore difficult to obtain. The serum protein creatine … [Read more]

Duchenne muscular dystrophy (DMD) displays a clinical range that is not fully explained by the primary DMD mutations. Ltbp4, encoding latent transforming growth factor-β binding protein 4, was previously discovered in a genome-wide scan as a modifier of murine muscular dystrophy. In this study, the authors sought to determine whether LTBP4 genotype influenced DMD severity … [Read more]

The β-tropomyosin gene encodes a component of the sarcomeric thin filament. Rod-shaped dimers of tropomyosin regulate actin-myosin interactions and β-tropomyosin mutations have been associated with nemaline myopathy, cap myopathy, Escobar syndrome and distal arthrogryposis types 1A and 2B. In this study, the authors expand the allelic spectrum of β-tropomyosin-related myopathies through the identification of a … [Read more]

The clinical features of myofibrillar myopathies display a wide phenotypic heterogeneity. To date, no studies have evaluated this parameter due to the absence of pertinent animal models. Researchers from the Institute of Myology participated in this study, which addressed this issue by using an animal model based on the use of adeno-associated virus (AAV) vectors … [Read more]

Congenital myasthenic syndromes are a heterogeneous group of inherited disorders that arise from impaired signal transmission at the neuromuscular synapse. They are characterized by fatigable muscle weakness. To determine the underlying defect in patients with an inherited limb-girdle pattern of myasthenic weakness, linkage analysis, whole-exome and whole-genome sequencing were performed. ALG14 and ALG2 were identified … [Read more]

Catena® (idebenone) received conditional market approval in Canada for the treatment of Friedreich’s ataxia (FA) in July 2008. Idebenone was among the first antioxidant compounds to be tested in FA. Overall, it has been shown to be safe and well-tolerated in a number of phase 1, 2 and 3 human clinical trials dating back to … [Read more]

As a strategy to treat Duchenne muscular dystrophy, arginine butyrate was employed in this study, as it combines two pharmacological activities,: nitric oxide pathway activation, and histone deacetylase inhibition. Continuous intraperitoneal administration to dystrophin-deficient mdx mice resulted in a near 2-fold increase in utrophin (protein homologous to dystrophin) in skeletal muscle, heart, and brain, accompanied … [Read more]

Duchenne muscular dystrophy is a progressive and incurable neuromuscular disease caused by genetic and biochemical defects of the dystrophin–glycoprotein complex. Here, the authors show the regenerative potential of myogenic progenitors derived from corrected dystrophic induced pluripotent stem cells generated from fibroblasts of mice lacking both dystrophin and utrophin. The phenotype of dystrophic induced pluripotent stem … [Read more]

Genetic testing and screening of minors is widespread, and testing is done routinely on virtually all newborns. A joint statement from the American College of Medical Genetics and Genomics (ACMG) and the American Academy of Pediatrics (AAP) has updated clinical guidelines for genetic screening and testing situations affecting children and adolescents. The statement is a … [Read more]

In this study, the authors aimed to review current approaches for obtaining patient data in Duchenne muscular dystrophy (DMD) and consider how monitoring and comparing outcome measures across DMD clinics could facilitate standardized and improved patient care. They reviewed annual standardized data from cystic fibrosis (CF) clinics and DMD care guidelines and consensus statements; compared … [Read more]