Myology research highlights

No therapy is currently available for spinal muscular atrophy (SMA), a neuromuscular disease characterised by the selective loss of spinal motor neurons due to the depletion of the survival of motor neuron (SMN) protein and the leading genetic cause of death in childhood. The present study reports that insulin-like growth factor-1 receptor (Igf-1r) gene expression … [Read more]

Duchenne muscular dystrophy (DMD) is a progressive, life-limiting muscle-wasting disease. Although no curative treatment is yet available, comprehensive multidisciplinary care has increased life expectancy significantly in recent decades. An international consensus care publication in 2010 outlined best-practice care, which includes corticosteroid treatment, respiratory, cardiac, orthopedic and rehabilitative interventions to address disease manifestations. While disease specialists … [Read more]

This case series examined preoperative findings and the surgical, anesthetic, and postoperative management of 6 patients with congenital myopathies (CMs) and congenital muscular dystrophies (CMDs) treated at a tertiary medical institution with orthognathic surgery over 15 years to describe pertinent considerations for performing orthognathic surgery in these complex patients. Patients with CMs or CMDs often … [Read more]

Nemaline myopathy is a rare disorder characterized by skeletal muscle weakness of varying severity and onset, with the presence of nemaline rods on muscle biopsy. Congenital nemaline body myopathy due to mutations in TNNT1 has hitherto only been described as a result of a single founder mutation in patients of Amish origin and in 2 … [Read more]

Myofibrillar myopathies (MFM) were described in the mid-1990s as a group of diseases sharing common histological features, including an abnormal accumulation of intrasarcoplasmic proteins, the presence of vacuoles and a disorganisation of the intermyofibrillar network beginning at the Z-disk. The boundaries of this concept are still uncertain, and whereas six genes (DES, CRYAB, LDB3/ZASP, MYOT, … [Read more]

Duchenne muscular dystrophy (DMD) is a progressive and fatal muscle degenerating disease caused by a dystrophin deficiency. Effective suppression of the primary pathology observed in DMD is critical for treatment. Patient-derived human induced pluripotent stem cells (hiPSCs) are a promising tool for drug discovery. Here, we report an in vitro evaluation system for a DMD … [Read more]

In this study, the authors performed whole-exome sequencing and targeted exome sequencing in order to identify the genetic etiology and characterise the clinicopathologic features of a novel distal myopathy. They also evaluated the pathogenicity of identified mutations using immunohistochemistry, Western blot analysis, and expression studies. Sequencing identified a likely pathogenic c.1165+1 G>A splice donor variant … [Read more]

GNE myopathy is an autosomal-recessive disorder caused by mutations in the GNE gene, encoding the key enzyme in the sialic acid biosynthetic pathway, UDP-N-acetylglucosamine 2-epimerase/N-acetyl mannosamine kinase. This study describes 50 Bulgarian Roma patients homozygous for p.I618T, an ancient founder mutation in the kinase domain of the GNE gene, dating before the Gypsy exodus from … [Read more]

The aim of this study was to establish the possible effect of glucocorticoid treatment on upper limb function in a cohort of 91 non-ambulant DMD boys and adults of age between 11 and 26 years. All 91 were assessed using the Performance of Upper Limb test. Forty-eight were still on glucocorticoid after loss of ambulation, … [Read more]

The American Academy of Neurology and American Association of Neuromuscular & Electrodiagnostic Medicine have published new recommendations for the evaluation, diagnosis, prognostication, and treatment of patients with facioscapulohumeral muscular dystrophy (FSHD] patients. The guideline emphasizes the use of genetic testing to confirm diagnosis, and treatment of FSHD-associated complications involving breathing, hearing loss and pain. The … [Read more]