Myology research highlights

  Spinal deformities are common in neuromuscular diseases. Conventional treatment involves bracing, followed by spinal instrumented fusion. Growing rod techniques are increasingly advocated but have a high rate of complications. This retrospective review aimed to report the results of an alternative technique using a minimally invasive fusionless surgery. The originality is based on the progressive … [Read more]

  Life expectancy is greatly shortened in patients presenting with myotonic dystrophy type 1 (DM1), the most common neuromuscular disease. A reliable prediction of survival in patients with DM1 is critically important to plan personalized health supervision. In this cohort study involving 1296 adults with DM1, the authors aimed to develop a model to predict … [Read more]

  Patients with Duchenne muscular dystrophy in their second decade of life present with decreased upper extremity strength and active range of motion (AROM) that limit activities of daily living (ADLs). Here, the authors evaluated the ability of the Wilmington Robotic Exoskeleton (WREX) to improve AROM and independence with ADLs. A retrospective chart review of … [Read more]

  The continual discovery of disease-causing gene mutations has led to difficulties in the complex classification of Charcot-Marie-Tooth diseases (CMT) that needs to be revised. The authors of the present study have recently published a proposal to update the classification of inherited neuropathies. Following positive feedback from the proposal, they performed an internet survey (from … [Read more]

  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]