Myology research highlights

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]

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]

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]

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]

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]

A carotid-cavernous fistula (CCF) is an abnormal communication between the carotid arterial system and the cavernous sinus. Common symptoms of CCFs include proptosis and ophthalmoplegia, but fluctuating diplopia and presence of ptosis are not typical. Here, the authors present an unusual case of CCF with fluctuating binocular diplopia and ptosis, mimicking myasthenia gravis. Electrodiagnostic testing, … [Read more]

Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common neuromuscular disorders. The major form of the disease (FSHD1) is linked to decrease in copy number of a 3.3-kb tandem repeated macrosatellite (D4Z4), located on chromosome 4q35. D4Z4 deletion alters chromatin structure of the locus leading to aberrant expression of nearby 4q35 genes. Given the … [Read more]

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]

Sarcoglycanopathies include four subtypes of autosomal recessive limb-girdle muscular dystrophies. Patients usually present with progressive weakness leading to early loss of ambulation and premature death. No effective treatment is currently available. Here, the authors present clinical aspects and outcomes of six children with sarcoglycanopathies treated with steroids for at least one year. Patient files were … [Read more]

The use of Next Generation Sequencing (NGS) in the diagnosis of rare genetic pathologies is becoming ever more widespread in clinical practice. The following study reports the first case of preimplantation diagnosis through NGS of a form of LAMA2-related muscular dystrophy. A couple went to the Reproductive Medicine Centre for a preconceptional genetic consultation and … [Read more]