Myology research highlights

  Oral salbutamol has shown clinical benefits in spinal muscular atrophy (SMA). Here, the authors studied its effect on the respiratory muscle strength in children with different types of SMA. Lung and respiratory muscle functions were assessed in children receiving daily oral salbutamol for at least one year. The respiratory data of age-matched SMA II … [Read more]

Pacemakers (PM) and implantable cardioverter defibrillators (ICD) may be indicated for sudden death prevention in myotonic dystrophy type 1 (DM1). However the risk of complications after the placement of these devices is unknown. This study compared the rate of device-related complications between PM and ICD implantations in 23 patients with DM1who were implanted with an … [Read more]

  The purpose of this study was to examine exercise effects on muscle water T2 in patients with Duchenne muscular dystrophy (DMD). In 12 DMD subjects and 19 controls, lower leg muscle fat (%) was measured by Dixon and muscle water T2 and R2 (1/T2) by the tri-exponential model. Muscle water R2 was measured again … [Read more]

Mutations in calpain-3 cause limb girdle muscular dystrophy 2A. Biopsy pathology is typically dystrophic, sometimes characteriSed by frequent lobulated fibres. More recently calpain mutations have been shown in association with eosinophilic myositis, suggesting that calpain mutations may render muscle susceptible to inflammatory change. This article presents the case of a 33-year old female with mild … [Read more]

Defects in genes encoding the isoforms of the laminin alpha subunit have been linked to various phenotypic manifestations, including brain malformations, muscular dystrophy, ocular defects, cardiomyopathy, and skin abnormalities. Here, the authors report a severe defect of neuromuscular transmission in a consanguineous patient with a homozygous variant in the laminin alpha-5 subunit gene (LAMA5). The … [Read more]

Although there are several promising strategies under investigation to restore dystrophin protein expression, there is currently no cure for Duchenne muscular dystrophy (DMD), and identification of genetic modifiers as potential targets represents an alternative therapeutic strategy. In a Brazilian golden retriever muscular dystrophy (GRMD) dog colony, two related dogs demonstrated strikingly mild dystrophic phenotypes compared … [Read more]

Enzyme-linked and electrochemiluminescence immunoassays were developed for quantification of amino (N-) terminal fragments of the skeletal muscle protein titin (N-ter titin) and qualified for use in detection of urinary N-ter titin excretion. Urine from normal subjects contained a small but measurable level of N-ter titin (1.0 ± 0.4 ng/ml). A 365-fold increase (365.4 ± 65.0, P = 0.0001) in urinary N-ter titin … [Read more]

Duchenne muscular dystrophy (DMD) is a deadly and incurable disease typically diagnosed in early childhood. Presently, the delay between a caregiver’s initial concern and the primary care physician obtaining creatine kinase levels-the most important screening test-is more than a year. It is imperative to diagnose DMD as soon as possible because early treatment has the … [Read more]

This study examines the long-term cognitive and academic outcomes of 11 individuals with infantile onset Pompe disease (IOPD) treated with enzyme replacement therapy from an early age. All participants were administered individual intelligence tests (Wechsler or Leiter scales or both), a measure of their academic skill levels (Woodcock-Johnson Tests of Achievement), and a screening measure … [Read more]

Pompe disease is a rare inheritable muscle disorder for which enzyme replacement therapy (ERT) has been available since 2006. Three consensus meetings were organised through the European Pompe Consortium, a network of experts from 11 European countries in the field of Pompe disease. A systematic review of the literature was undertaken to determine the effectiveness … [Read more]