Myology research highlights

  Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by loss or mutations in SMN1. According to age of onset, achieved motor abilities, and life span, SMA patients are classified into type I (never sit), II (never walk unaided) or III (achieve independent walking abilities). SMN2, the highly homologous copy of SMN1, is considered … [Read more]

  The aim of this study was to explore without a priori hypotheses, whether myositis-specific autoantibodies (MSAs) are associated with distinct clinical-pathological changes and severity in a monocentric juvenile dermatomyositis (JDM) cohort. Clinical, biological and histological findings from 23 JDM patients were assessed. Twenty-six histopathological parameters were subjected to multivariate analysis. The results show that … [Read more]

  Myotubular myopathy, or X-linked centronuclear myopathy, is a severe muscle disorder representing a significant burden for patients and their families. It is clinically characterized by neonatal and severe muscle weakness and atrophy. Mutations in the myotubularin (MTM1) gene cause myotubular myopathy, and no specific curative treatment is available. The authors of the present study … [Read more]

The team of J. Dumonceaux has shown that anti-myostatin therapy is effective if the level of myostatin is sufficient. Anti-myostatin molecules inhibit the myostatin pathway: myostatin is a protein secreted by muscle that naturally inhibits muscle growth. Several therapeutic approaches aimed at increasing muscle mass and targeting myostatin have been studied in clinical trials. However, … [Read more]

Telehealth describes the provision of medical services remotely through technology, and may enhance patient access to specialty care services. Although teleneurology has expanded widely since the introduction of telestroke in 1999, telehealth services for outpatients with neuromuscular or musculoskeletal disorders are less widespread. In this narrative review, the authors describe the current technology, applications, outcomes, … [Read more]

Nemaline myopathy has been associated with mutations in twelve genes to date. However, for some patients diagnosed with nemaline myopathy, definitive mutations are not identified in the known genes, suggesting there are other genes involved. This study describes compound heterozygosity for rare variants in RYR3 in one such patient. Clinical examination of the patient at … [Read more]

This study investigated the potential of Lmna-mRNA repair by spliceosome-mediated RNA trans-splicing as a therapeutic approach for LMNA-related congenital muscular dystrophy. This gene therapy strategy leads to reduction of mutated transcript expression for the benefit of corresponding wild-type (WT) transcripts. The authors developed 5′-RNA pre-trans-splicing molecules containing the first five exons of Lmna and targeting … [Read more]

  Amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA) are the most frequent motor neuron disorders in adulthood and infancy, respectively. There is a growing literature supporting common pathophysiological patterns between those disorders. One important clinical issue for that is the co-occurrence of both diseases within a family. Here, the authors aimed to collect … [Read more]

  The most common causes of congenital myasthenic syndromes (CMS) are CHRNE mutations, and some pathogenic allelic variants in this gene are especially frequent in certain ethnic groups. In the southern region of Brazil, a study found the c.130dupG CHRNE mutation in up to 33% of families with CMS. Here, the authors aimed to verify … [Read more]

  Glycogen storage disease type III (GSDIII) is an autosomal recessive disorder caused by a deficiency of glycogen-debranching enzyme (GDE), which results in profound liver metabolism impairment and muscle weakness. To date, no cure is available for GSDIII and current treatments are mostly based on diet. Here, the authors describe the development of a mouse … [Read more]