Blog Archives

Laing early onset distal myopathy and myosin storage myopathy are caused by mutations of slow skeletal/β-cardiac myosin heavy chain encoded by the gene MYH7, as is a common form of familial hypertrophic/dilated cardiomyopathy. The mechanisms by which different phenotypes are produced by mutations in MYH7, even in the same region of the gene, are not … [Read more]

Myasthenia gravis (MG) is an autoimmune disease characterized by the presence of autoantibodies, mainly against the acetylcholine receptor (AChR). The mechanisms triggering and maintaining this chronic disease are unknown. MiRNAs are regulatory molecules that play a key role in the immune system and are altered in many autoimmune diseases. The aim of this study was … [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]

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]

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]

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]

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]

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]

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]