Myology research highlights

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]

PTC Therapeutics has started a safety and tolerability study in adult and pediatric patients with spinal muscular atrophy (SMA). The investigational compound developed by PTC in collaboration with corporate partner Roche and other entities, RG7800, is designed to increase levels of the SMN (survival of motor neuron) protein. A deficiency of full-length, fully functional SMN … [Read more]

Sporadic late-onset nemaline myopathy (SLONM) is a rare, late-onset myopathy that progresses subacutely. If associated with a monoclonal gammopathy of unknown significance (MGUS), the outcome is unfavorable: the majority of these patients die within 1 to 5 years of respiratory failure. This study aims to qualitatively assess the long-term treatment effect of high-dose melphalan (HDM) … [Read more]

Neuromuscular diseases (NMDs) are a group of over 200 highly genetically as well as clinically heterogeneous inherited genetic disorders that affect the peripheral nervous and muscular systems, resulting in gross motor disability. The clinical and genetic heterogeneities of NMDs make disease diagnosis complicated and expensive, often involving multiple tests. To expedite the molecular diagnosis of … [Read more]

McArdle disease (Glycogen Storage Disease type V) is caused by an absence of muscle phosphorylase leading to exercise intolerance, myoglobinuria rhabdomyolysis and acute renal failure. This update of a review first published in 2004, systematically examined the evidence from randomised controlled trials (RCTs) of pharmacological or nutritional treatments for improving exercise performance and quality of … [Read more]

This study aimed to identify and characterize the molecular basis of a syndrome associated with myasthenia, cortical hyperexcitability, cerebellar ataxia, and intellectual disability. The authors performed in vitro microelectrode studies of neuromuscular transmission, performed exome and Sanger sequencing, and analyzed functional consequences of the identified mutation in expression studies. Neuromuscular transmission at patient endplates was … [Read more]

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]