Myology research highlights

  Spinal muscular atrophy (SMA) is caused by deletions or mutations in the survival motor neuron 1 gene (SMN1). In humans, a nearly identical copy gene, SMN2, is present. Because SMN2 has been shown to decrease disease severity in a dose-dependent manner, SMN2 copy number is predictive of disease severity. This study describes the outcome … [Read more]

  This study investigated motor function associations with age, sex, and D4Z4 repeats among participants with early-onset facioscapulohumeral muscular dystrophy (FSHD) type 1 as defined by weakness onset before 10 years of age. Among 52 participants (60% female, mean age 22.9 ± 14.7 years), weakness was most pronounced in the shoulder and abdominal musculature. Older … [Read more]

  Partial or full monosomy of the short arm of chromosome 18 results in the rare disorder, 18p deletion syndrome. Clinical symptoms caused by 18p hemizygosity include cognitive impairment, mild facial dysmorphism, strabismus and ptosis. Among other genes, structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1) is hemizygous in most patients with 18p … [Read more]

  In this article, the authors studied the signature of 87 urinary miRNAs in Duchenne muscular dystrophy (DMD) patients, selected the most dysregulated and determined statistically significant differences in their expression between controls, ambulant (A) and non-ambulant (NA) DMD patients, and patients on different corticosteroid regimens. Their results revealed that miR-29c-3p was significantly downregulated in … [Read more]

  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]