Blog Archives

Duchenne (DMD) and Becker (BMD) muscular dystrophies are caused by mutations in the DMD gene coding for dystrophin, a protein being part of a large sarcolemmal protein scaffold that includes the neuronal nitric oxide synthase (nNOS). The nNOS was shown to play critical roles in a variety of muscle functions and alterations of its expression … [Read more]

Nusinersen acts as a splicing modifier and has recently been approved for intrathecal treatment of spinal muscular atrophy (SMA). Prior to approval, it was provided to patients with SMA type 1 in Germany within an Expanded Access Program (EAP). In contrast to previous clinical trials, children of different age groups and different stages of the … [Read more]

Muscle sampling via percutaneous biopsy has been shown to be safe and effective using a Bergström needle; however, the use of a single-operator, self-contained, vacuum-assisted biopsy technique has not been explored. Here, the authors performed a retrospective chart review of muscle biopsy samples obtained using the Vacora® self-contained vacuum-assisted biopsy system between 2013 and 2016, … [Read more]

This phase 3 clinical trial evaluated the efficacy and safety of high-dose taurine supplementation for prevention of stroke-like episodes of MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes), a rare genetic disorder caused by point mutations in the mitochondrial DNA that lead to a taurine modification defect at the first anticodon nucleotide of mitochondrial … [Read more]

In early-onset Myasthenia Gravis (MG) with anti-acetylcholine receptor antibodies, thymic abnormalities associated with ectopic germinal centers are frequent. miRNAs by acting as post-transcriptional regulators are involved in autoimmunity. To investigate the implication of miRNAs in thymic changes associated with early-onset MG, the authors performed a miRnome study and data were analyzed with different approaches. miRNAs … [Read more]

Gene therapy in proximal spinal muscular atrophy type 1 (SMA1) improves long-term motor function. Following an agreement with Genethon, Avexis laboratory is continuing the development of the AVXS-101 gene therapy product, an AAV9 carrying the SMN1 gene. New gene therapy results were presented at the 70th Congress of the American Academy of Neurology (AAN) held … [Read more]

Steinert’s disease (or myotonic dystrophy type 1) is one of the most common neuromuscular diseases, affecting adults and more rarely, children. This multisystemic pathology is at the origin of muscular, cardiac, ophthalmic and endocrine complications. The existence of cognitive disorders, and more generally, involvement of the central nervous system, is increasingly widely accepted. In an … [Read more]

Glycogenoses are rare and heterogeneous pathologies, both clinically and genetically. By definition, they are related to a disorder of glycogen metabolism (glycogen accumulation), the latter plays an essential role in glycogen storage that is required for cellular energy. They can have muscular, but also cardiac and/or hepatic manifestations. Besides the more frequent and better described, … [Read more]

Steinert’s disease (or myotonic dystrophy type 1, or DM1) is one of the most common neuromuscular diseases that affects adults and more rarely children. Due to an expansion of CTG nucleotide triplets in the DMPK gene, this disease is transmitted in an autosomal dominant fashion. Multisystemic by definition, this pathology is at the origin of … [Read more]

This study describes the epidemiology of infantile Pompe disease (IPD) in French Guiana, a French overseas territory, by combining a retrospective case records study and a prospective anonymous genotyping in a sample of mothers followed in the two major maternity units of French Guiana. Nineteen newborns with IPD born were identified within a 13-year-period in … [Read more]