Myology research highlights

  In this study, the authors sought to understand the alteration in the anisotropic, or direction dependent, character of muscle as measured by electrical impedance myography (EIM) in 36 boys with DMD (27 healthy controls) and its potential to serve as a biomarker of disease status. Normalised reactance anisotropy, a direction-dependent measure of membrane charge … [Read more]

  Skeletal muscle regeneration by muscle satellite cells is a physiological mechanism activated upon muscle damage and regulated by Notch signaling. In a family with autosomal recessive limb-girdle muscular dystrophy, the authors identified a missense mutation in POGLUT1 (protein O-glucosyltransferase 1), an enzyme involved in Notch posttranslational modification and function. In vitro and in vivo … [Read more]

  This study aimed to develop a cost-effectiveness model based on the Duchenne muscular dystrophy Functional Ability Self-Assessment Tool (DMDSAT), a new rating scale created specifically to measure disease progression in clinical practice and trials and model DMD in economic evaluations, and compare it with two alternative model structures. Three Markov cohort state-transition models were … [Read more]

  This longitudinal mixed methods study evaluated the perceived efficacy of salbutamol in adult patients with spinal muscular atrophy (SMA) and the usefulness of the World Health Organization Disability Assessment Schedule II (WHODAS II) and Fatigue Severity Scale (FSS) for its measurement. Ten patients were interviewed and completed WHODAS II and FSS questionnaires to assess … [Read more]

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]