Myology research highlights

Skeletal muscle disease resulting in weakness is common in late-onset Pompe disease (LOPD). Recent data implicate common bulbar muscle involvement (i.e., the tongue). The authors used quantitative assessment of lingual strength to determine retrospectively the frequency and severity of lingual weakness in LOPD. They additionally examined associations between lingual strength and the presence or absence … [Read more]

Myotonic dystrophy type 1 (DM1) is the most frequent muscular dystrophy in adult. The aim of this study was to investigate the natural history of skeletal muscle weakness in adults, in a cross-sectional, retrospective study. In a cohort of 204 adult DM1 patients, the authors quantified muscle impairment, handgrip force and physical disability. Muscle strength … [Read more]

Facioscapulohumeral muscular dystrophy (FSHD) is linked to chromatin relaxation due to epigenetic changes at the 4q35 D4Z4 macrosatellite array. Molecular diagnostic criteria for FSHD are complex and involve analysis of high molecular weight (HMW) genomic DNA isolated from lymphocytes, followed by multiple restriction digestions, pulse-field gel electrophoresis (PFGE), and Southern blotting. A subject is genetically … [Read more]

Cardiac manifestations of Duchenne muscular dystrophy (DMD) include progressive cardiac dysfunction and an elevated resting heart rate (HR). Here, the authors hypothesized that this elevated HR reflects autonomic dysfunction that can be identified by heart rate variability (HRV) analyses, which will be associated with myocardial fibrosis by cardiac magnetic resonance imaging (cMR). DMD patients (N … [Read more]

Antisense oligonucleotides (AONs) used to reframe dystrophin mRNA transcripts for Duchenne muscular dystrophy (DMD) patients are tested in clinical trials. Here, AONs are administered subcutaneously and intravenously, while the less invasive oral route would be preferred. Oral delivery of encapsulated AONs supplemented with a permeation enhancer, sodium caprate, has been successfully used to target tumor … [Read more]

In this study, the authors generated a novel monoclonal antibody, DAG-6F4, against alpha-dystroglycan which immunolabels the sarcolemma in human muscle biopsies. Its seven amino-acid epitope, PNQRPEL, was identified using phage-displayed peptides and is located immediately after the highly-glycosylated mucin domain of alpha-dystroglycan. On Western blots of recombinant alpha-dystroglycan, epitope accessibility was reduced, but not entirely … [Read more]

Spinal muscular atrophy (SMA) is the second most common genetic cause of death in childhood. However, no effective treatment is available to halt disease progression. SMA is caused by mutations in the survival motor neuron 1 (SMN1) gene. The authors of the present study have previously reported that PTEN depletion leads to an increase in … [Read more]

Prenatal testing based on cell-free fetal DNA in maternal serum is now possible for specific monogenic conditions. Studies have shown that prospective parents and health professionals support the use of non-invasive testing. However, some ethical issues have been raised concerning informed consent and paternal rights. The objective of this study was to explore ethical aspects … [Read more]

Spinal and bulbar muscular atrophy (SBMA) or Kennedy’s disease is an X-linked CAG/polyglutamine expansion motoneuron disease, in which an elongated polyglutamine tract (polyQ) in the N-terminal androgen receptor (ARpolyQ) confers toxicity to this protein. Typical markers of SBMA disease are ARpolyQ intranuclear inclusions. These are generated after the ARpolyQ binds to its endogenous ligands, which … [Read more]

Isis Pharmaceuticals has opened a second phase 3 trial to test its antisense drug, ISIS-SMNRx, in children with spinal muscular atrophy (SMA) who are 2 to 12 years old, not able to walk, and experienced their first disease symptoms after 6 months of age. ISIS-SMNRx is designed to alter the splicing of a closely related … [Read more]