Myology research highlights
RSS feedAtaluren in patients with nonsense mutation DMD
This multicentre, randomised, double-blind, placebo-controlled, phase 3 trial aimed to assess the efficacy and safety of ataluren in ambulatory boys with nonsense mutation Duchenne muscular dystrophy (DMD). Boys aged 7-16 years with nonsense mutation DMD and a baseline 6-minute walk distance (6MWD) of 150 m or more and 80% or less of the predicted … [Read more]
Cardiac profile of asymptomatic children with BMD and DMD under treatment with steroids and with/without perindopril
This single point cross sectional study evaluated cardiovascular function in boys with Duchenne (DMD) and Becker (BMD) muscular dystrophy, using cardiac magnetic resonance (CMR). The DMD patients were divided in 2 groups. Group A (N = 12) were under treatment with both deflazacort and perindopril, while Group B (n = 12) were under treatment … [Read more]
Correction of a pathogenic splice-site mutation using non-homologous end-joining
Splice-site defects account for about 10% of pathogenic mutations that cause Mendelian diseases. Prevalence is higher in neuromuscular disorders (NMDs), owing to the unusually large size and multi-exonic nature of genes encoding muscle structural proteins. Therapeutic genome editing to correct disease-causing splice-site mutations has been accomplished only through the homology-directed repair pathway, which is … [Read more]
NEFH mutations in CMT cause protein aggregation and neuronal death
Neurofilament heavy chain (NEFH) gene was recently identified to cause autosomal dominant axonal Charcot-Marie-Tooth disease (CMT2cc). However, the clinical spectrum of this condition and the physio-pathological pathway remain to be delineated. Here, the authors report two French families presenting with an axonal, dominantly inherited form of CMT characterized by prominent motor deficit affecting both the … [Read more]
Myogenesis in myasthenia gravis
Myasthenia gravis (MG) is a neuromuscular disease caused in most cases by anti-acetyl-choline receptor (AChR) autoantibodies that impair neuromuscular signal transmission and affect skeletal muscle homeostasis. Myogenesis is carried out by muscle stem cells called satellite cells (SCs). However, myogenesis in MG had never been explored. Here, researchers from the Institute of Myology* aimed to … [Read more]
Brain imaging in myotonic dystrophy type 1
Here, the authors systematically review brain imaging studies in myotonic dystrophy type 1 (DM1) from 81 studies. They extracted clinical characteristics, primary outcomes, clinical-genetic correlations, and information on potential risk of bias. Results were summarized and pooled prevalence of imaging abnormalities was calculated, where possible. They conclude that DM1 brains show widespread white and … [Read more]
Clinical and mutational spectrum of Japanese patients with MORC2
The microrchidia family CW-type zinc finger 2 gene (MORC2) was newly identified as a causative gene of Charcot-Marie-Tooth disease (CMT) type 2Z in 2016. Here, the author describe the clinical and mutational spectrum of patients with CMT harboring MORC2 mutations in Japan, the largest report of patients harboring MORC2 variants. Samples from 781 unrelated … [Read more]
Newborn screening to diagnose SMA before symptom onset
This study aimed to demonstrate the feasibility of presymptomatic diagnosis spinal muscular atrophy (SMA) through newborn screening (NBS). A screening trial was performed to assess all newborns who underwent routine newborn metabolic screening at the National Taiwan University Hospital newborn screening center between November 2014 and September 2016. A real-time polymerase chain reaction (RT-PCR) … [Read more]
Long-term treatment with leuprorelin for SBMA
This natural history-controlled study evaluated the prognosis and progression of spinal and bulbar muscular atrophy (SBMA), a rare X-linked motor neuron disorder caused by trinucleotide repeat expansion in the AR (androgen receptor) gene, after long-term androgen suppression with leuprorelin acetate treatment. A total of 36 patients with SBMA were treated with leuprorelin acetate for up … [Read more]
Safety, pharmacokinetics and sialic acid production after oral administration of N-acetylmannosamine (ManNAc) to subjects with GNE myopathy
GNE myopathy is a rare, autosomal recessive, inborn error of sialic acid metabolism, caused by mutations in GNE, the gene encoding UDP-N-acetyl-glucosamine-2-epimerase/N-acetylmannosamine kinase. The disease manifests as an adult-onset myopathy characterized by progressive skeletal muscle weakness and atrophy. There is no medical therapy available for this debilitating disease. Hyposialylation of muscle glycoproteins likely contributes to … [Read more]
