Myology research highlights

The molecular definition of limb girdle muscular dystrophies (LGMDs) is fundamental for prognostic and therapeutic purposes. Here, the authors have created an Italian LGMD registry that includes 370 molecularly defined patients. Detailed retrospective and prospective data were reviewed and each LGMD subtype was compared for differential diagnosis purposes. They found that LGMD types 2A and … [Read more]

  This online willingness-to-pay survey of US adults (n = 982) was conducted to assess population preferences for newborn screening for spinal muscular atrophy (SMA), and how test preferences varied depending on immediate treatment implications. Respondents were asked to imagine being parents of a newborn. Each respondent was presented with two hypothetical scenarios following the … [Read more]

Tibial muscular dystrophy (TMD), the first described human titinopathy, is a mild adult-onset slowly progressive myopathy causing weakness and atrophy in the anterior lower leg muscles. TMD is caused by mutations in the last two exons, Mex5 and Mex6, of the titin gene (TTN). The first reported TMD mutations were dominant, but the Finnish founder … [Read more]

  Pompe disease is an autosomal-recessive lysosomal storage disorder characterized by progressive myopathy with proximal muscle weakness, respiratory muscle dysfunction, and cardiomyopathy (in infants only). In patients with juvenile or adult disease onset, respiratory muscle weakness may decline more rapidly than overall neurological disability. Sleep-disordered breathing, daytime hypercapnia, and the need for nocturnal ventilation eventually … [Read more]

Positive interim results have been reported for the phase III trial of SpinrazaTM (nusinersen) in children with Type 2 SMA. Following the announcement of the encouraging preliminary results from the ENDEAR (IONIS-CS3B) trial for infants less than 7 months of age with proximal SMA linked to SMN1, Biogen and IONIS Pharmaceuticals have announced positive interim … [Read more]

Facioscapulohumeral dystrophy (FSHD) is one of the three most common muscular dystrophies in the Western world, however, its etiology remains only partially understood. Here, the authors provide evidence of constitutive DNA damage in in vitro cultured myoblasts isolated from FSHD patients and demonstrate oxidative DNA damage implication in the differentiation of these cells into phenotypically-aberrant … [Read more]

Recently, a new gene (GMPPB), responsible for causing both LGMD type 2T and congenital muscular dystrophy (CMD), has been identified. Mutations in GMPPB lead to hypoglycosylation of α-dystroglycan.2 Approximately 40 patients with GMPPB mutations and muscular dystrophy have been reported worldwide with phenotypes equally distributed between LGMD and CMD. In this study, muscle involvement assessed … [Read more]

Biogen has submitted a marketing authorisation application (MAA) to the European Medicines Agency (EMA) for nusinersen as a treatment for SMA. New data from the clinical program for nusinersen were presented at the World Muscle Society Congress. A marketing authorisation application to the European Medicines Agency for nusinersen In a statement sent to associations of … [Read more]

Pompe disease is an inherited lysosomal disease in which there is a decrease or absence of acid alpha-glucosidase activity. This enzyme defect induces glycogen storage in different tissues, especially muscle and heart, resulting in muscle weakness, respiratory failure and heart disease. Substitutive enzyme replacement therapy (ERT) dispensed every two weeks is the only treatment that … [Read more]

Previous data from this team of researchers suggest that the Calpain 3 (CAPN3) gene helps to maintain the integrity of the triad complex in skeletal muscle. In Capn3 knock-out mice (C3KO), Ca2+ release and Ca2+/calmodulin kinase II (CaMKII) signaling are attenuated. They hypothesised that calpainopathy may result from a failure to transmit loading-induced Ca2+-mediated signals, … [Read more]