Myology research highlights

Ultrasound and MR imaging are non-invasive methods that can be performed repeatedly and without discomfort. In the assessment of neuromuscular disorders it is unknown if they hold complementary information. In this study, the authors tested this for patients with facioscapulohumeral muscular dystrophy (FSHD). Quantitative muscle ultrasound (QMUS) and quantitative MRI (QMRI) of the legs were … [Read more]

Duchenne muscular dystrophy is a severe muscle-wasting disease caused by mutations in the dystrophin gene that ablate functional protein expression. Although exonic deletions are the most common Duchenne muscular dystrophy lesion, duplications account for 10-15% of reported disease-causing mutations, and exon 2 is the most commonly duplicated exon. Here, the authors describe the in vitro … [Read more]

Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of genetically determined muscle disorders with a primary or predominant involvement of the pelvic or shoulder girdle musculature. More than 20 genes with autosomal recessive (LGMD2A to LGMD2Q) and autosomal dominant inheritance (LGMD1A to LGMD1H) have been mapped/identified to date. Mutations are known for six among the … [Read more]

Questions about care practices and the role of palliative care in pediatric neurodegenerative diseases have led the Neuromuscular Committee of the French Society of Neurology to conduct a retrospective study in spinal muscular atrophy type 1, a genetic disease most often leading to death before the age of 1 year. This was a multicenter study … [Read more]

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with few therapeutic options. Mild obesity is associated with greater survival in patients with the disease, and calorie-dense diets increased survival in a mouse model. The authors aimed to assess the safety and tolerability of two hypercaloric diets in patients with amyotrophic lateral sclerosis receiving enteral … [Read more]

Sporadic inclusion body myositis (sIBM), the most frequent myositis in elderly patients, is characterised by the presence muscle inflammation and degeneration. Here, the authors aimed at characterising immune responses and regulatory T cells, considered key players in the maintenance of peripheral immune tolerance, in sIBM. Serum and muscle tissue levels of 25 cytokines and phenotype … [Read more]

Using stem cells to replace degenerating muscle cells and restore lost skeletal muscle function is an attractive therapeutic strategy for treating neuromuscular diseases. Myogenic progenitors are a valuable cell type for cell-based therapy and also provide a platform for studying normal muscle development and disease mechanisms in vitro. Human pluripotent stem cells represent a valuable … [Read more]

In this study, the authors investigate the genetic and physiologic basis of the neuromuscular symptoms of hypotonia-cystinuria syndrome (HCS) and isolated PREPL deficiency, and their response to therapy. Molecular genetic, histochemical, immunoblot, and ultrastructural studies were performed, neuromuscular transmission in vitro in a patient with isolated PREPL deficiency was investigated, and the effect of pyridostigmine … [Read more]

This study evaluated the effects of preventive treatment with low-level laser therapy (LLLT) on the progression of dystrophy in mdx mice. Ten animals were randomly divided into 2 experimental groups treated with superpulsed LLLT (904 nm, 15 mW, 700 Hz, 1 J) or placebo-LLLT at one point overlying the tibialis anterior muscle (bilaterally) 5 times … [Read more]

Ca2+ is a major regulatory and signaling molecule in skeletal muscle, therefore the cellular Ca2+ dynamics need to be tightly regulated. Ca2+ stores are refilled through a process called store-operated Ca2+ entry (SOCE). Signaling through the store-operated Ca2+ release-activated Ca2+ (CRAC) channel regulates critical cellular functions, including gene expression, cell growth and differentiation, and Ca2+ … [Read more]