Myology research highlights

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]

 This 1st call for proposals launched by the  French Foundation for  rare  diseases  aims  to  directly support intermediary key  steps towards  clinical  development for patient.The objective is to support pilot scientific projects at the interface between the in vivo proofs of principle, usually in rodents, and the development of a clinical application in human patients.Submission deadline … [Read more]

Interim results of a phase 2 clinical trial to test multiple doses of the experimental drug ISIS-SMNRx in infants with spinal muscular atrophy (SMA) suggest that the drug is well-tolerated and may prolong ventilator-free survival. The drug is designed to increase the level of full-length, fully functional SMN. In the ongoing phase 2 trial, doses … [Read more]

Autosomal recessive centronuclear myopathy (CNM2), caused by mutations in bridging integrator 1 (BIN1), is a mildly progressive neuromuscular disorder characterized by abnormally centralized myonuclei and muscle weakness. BIN1 is important for membrane sensing and remodeling in vitro in different cell types. However, to fully understand the biological roles of BIN1 in vivo and to answer … [Read more]

In this study, the authors evaluated facial memory ability (FMA) in patients with myotonic dystrophy type 1 (DM1). They also explored the relationship between FMA and neuropsychological data, disease-related factors, and CTG repeat expansion size. Patients with DM1 (n = 33) and healthy subjects (n = 30) were tested with the faces task of the … [Read more]

Autosomal recessive limb-girdle muscular dystrophies (AR-LGMDs) are characterized by clinical and genetic heterogeneity. LGMD type 2C, or γ-sarcoglycanopathy, is the most frequent in North African populations as a result of the founder c.525delT mutation in the SGCG gene. Its epidemiology is poorly known in Morocco, and its prevalence among the Moroccan population has never been … [Read more]

Congenital muscular dystrophies (CMD) with hypoglycosylation of α-dystroglycan are clinically and genetically heterogeneous disorders that are often associated with brain malformations and eye defects. Presently, 16 proteins are known whose dysfunction impedes glycosylation of α-dystroglycan and leads to secondary dystroglycanopathy. In this study, the authors aimed to identify the cause of CMD with secondary merosin … [Read more]

 X-linked Charcot-Marie-Tooth disease type 5 (CMTX5), Arts syndrome, and non-syndromic sensorineural deafness (DFN2) are allelic syndromes, caused by reduced activity of phosphoribosylpyrophosphate synthetase 1 (PRS-I) due to loss-of-function mutations in PRPS1. As only few families have been described, knowledge about the relation between these syndromes, the phenotypic spectrum in patients and female carriers, and the … [Read more]