Blog Archives

  Recent studies have shown compelling evidence of therapeutic efficacy in large animal models following the intravenous delivery of AAV vectors expressing truncated forms of dystrophin. However, to translate these results to humans, careful assessment of the prevalence of anti-AAV neutralizing antibodies (NAbs) is needed, as presence of preexisting NABs to AAV in serum have … [Read more]

  Reliable data on the prevalence of skeletal muscle channelopathies is scarce. Here, the authors determined the minimum point prevalence of genetically-defined skeletal muscle channelopathies in the Netherlands and report their mutation spectrum. The minimum point prevalence rates for genetically-defined skeletal muscle channelopathies confirm their rare disease status in the Netherlands. Rates are almost twice … [Read more]

The 6th International Congress of Myology, organized by AFM-Telethon, will take place on 2019, MARCH 25-28, at the Lac Convention Centre in Bordeaux (France).  More than ever, therapeutic innovation will be at the heart of this event in all its aspects: gene therapy, pharmacogenomics, gene surgery and others. The successful research conducted in nerve and … [Read more]

  Patients with Duchenne muscular dystrophy (DMD) gradually lose the ability to stabilize their trunk against gravity. This hinders them to effectively perform different daily activities. In this paper, the authors describe the design, realization and evaluation of a trunk orthosis for these patients that should allow DMD patients to move their trunk and maintain … [Read more]

  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]