Myology research highlights
RSS feedSporadic late-onset nemaline myopathy with MGUS: Long-term follow-up after melphalan and SCT
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]
A highly sensitive and specific approach for molecular diagnosis of neuromuscular diseases
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]
Pharmacological and nutritional treatment for McArdle disease
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]
Mutant SNAP25B causes myasthenia, cortical hyperexcitability, ataxia, and intellectual disability
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]
Dystrophin deficient rats: a new and promising model for DMD
Few animal models of Duchenne muscular dystrophy (DMD) are available: large models such as pigs or dogs are expensive and difficult to handle. Mdx (X-linked muscular dystrophy) mice only partially mimic the human disease, with limited chronic muscular lesions and muscle weakness. Their small size also imposes limitations on analyses. A rat model could represent … [Read more]
The presentation, assessment, pathogenesis, and treatment of calcinosis in juvenile dermatomyositis
Calcinosis is one of the hallmark sequelae of juvenile dermatomyositis (JDM), and despite recent progress in the therapy of JDM, dystrophic calcification still occurs in approximately one third of patients. This review discusses the current, albeit limited, understanding of risk factors for the development of calcinosis in JDM, as well as approaches to assessment, and … [Read more]
Substrate reduction via inhibition of glycogen synthase: A promising therapeutic strategy for Pompe Disease
Pompe disease is an autosomal recessive disorder caused by a deficiency of acid α-glucosidase (GAA; EC 3.2.1.20) and the resultant progressive lysosomal accumulation of glycogen in skeletal and cardiac muscles. Enzyme replacement therapy using recombinant human GAA (rhGAA) has proven beneficial in addressing several aspects of the disease such as cardiomyopathy and aberrant motor function. … [Read more]
Becker muscular dystrophy severity is linked to the structure of dystrophin
In-frame exon deletions of the DMD gene produce internally truncated proteins that typically lead to Becker muscular dystrophy (BMD), a milder allelic disorder of Duchenne muscular dystrophy (DMD). In this study, the suthors hypothesized that differences in the structure of mutant dystrophin may be responsible for the clinical heterogeneity observed in Becker patients and they … [Read more]
Dystrophin quantification: Biological and translational research implications
A multi-institution collaboration was formed to compare dystrophin quantification methods, reach a consensus on the most reliable method, and report its biological significance in the context of clinical trials. Five laboratories with expertise in dystrophin quantification performed a data-driven comparative analysis of a single reference set of normal and dystrophinopathy muscle biopsies using quantitative immunohistochemistry … [Read more]
CSF-delivered gene therapy shows promise for SMA
Spinal Muscular Atrophy (SMA) is the most frequent lethal genetic neurodegenerative disorder in infants. The disease is caused by low abundance of the survival of motor neuron (SMN) protein leading to motor neuron degeneration and progressive paralysis. The authors have previously demonstrated that a single intravenous injection (IV) of self-complementary adeno-associated virus 9 carrying the … [Read more]
