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Psychiatric and neurodevelopmental aspects of BMD

Little is known about the relationship between Becker Muscular Dystrophy (BMD) and mental disorders. This study aimed to clarify whether BMD is a risk factor for psychiatric diseases. The authors asked genetically or immunohistochemically confirmed BMD patients to participate in the study interview. Participants who consented to psychiatric tests underwent further assessments of intellectual, psychological, … [Read more]

Type III glycogenesis (GSDIII): a European study emphasizes autophagy

Glycogen storage disorder type III (GSDIII), or debranching enzyme (GDE) deficiency, is a rare metabolic disorder characterized by variable liver, cardiac, and skeletal muscle involvement. GSDIII manifests with liver symptoms in infancy and muscle involvement during early adulthood. Muscle biopsy is mainly performed in patients diagnosed in adulthood, as routine diagnosis relies on blood or … [Read more]

Granulomatosis-associated myositis: high prevalence of s-IBM

In this study, the team of Belgian and French researchers including researchers from the Institute of Myology aimed to refine the predictive significance of muscle granuloma in patients with myositis. A group of 23 patients with myositis and granuloma on muscle biopsy (granuloma-myositis) from 8 French and Belgian centers was analyzed and compared with (1) … [Read more]

Sitting in patients with spinal muscular atrophy type 1 treated with nusinersen

The aim of this study was to determine factors associated with acquisition of a sitting position in patients with spinal muscular atrophy type 1 (SMA1) treated with nusinersen. Using data from the registry of patients with SMA1 treated with nusinersen, a team of European researchers including clinicians from I-Motion compared the subgroups of sitters and … [Read more]

The muscle is not a passive target in Myasthenia Gravis

Myasthenia gravis (MG) is a rare autoimmune disease mediated by pathogenic antibodies (Ab) directed against components of the neuromuscular junction (NMJ), mainly the acetylcholine receptor (AChR). The etiological mechanisms are not totally elucidated, but they include a combination of genetic predisposition, triggering event(s), and hormonal components. MG disease is associated with defective immune regulation, chronic … [Read more]

Motor activity and Becker’s muscular dystrophy: lights and shadows

Becker’s disease is an inherited muscular dystrophy caused by mutations in the gene coding for the dystrophin protein that leads to quantitative and/or qualitative protein dysfunction and consequent muscle degeneration. Studies in animal models demonstrate that, while eccentric or high-intensity training are deleterious for dystrophic muscles, low-intensity aerobic training may slowdown the disease process and … [Read more]

Titin splicing regulates cardiotoxicity associated with calpain 3 gene therapy for LGMD2A

Limb-girdle muscular dystrophy type 2A (LGMD2A or LGMDR1) is a neuromuscular disorder caused by mutations in the calpain 3 gene (CAPN3). Previous experiments using adeno-associated viral (AAV) vector-mediated calpain 3 gene transfer in mice indicated cardiac toxicity associated with the ectopic expression of the calpain 3 transgene. Here, the researchers, led by Isabelle Richard (Genethon), … [Read more]

SRP-4053 (VYONDYS 53) is the second antisense oligonucleotide to be authorised in the US by the FDA for DMD

On 12 December 2019, Sarepta Therapeutics announced, in a press release, that it had obtained conditional marketing authorisation from the FDA for the antisense oligonucleotide, SRP-4053, now referred to as VYONDYS 53. SRP-4053 targets DMD gene exon 53 skipping, an abnormality that affects approximately
 8% of boys with Duchenne muscular dystrophy (DMD). This is the … [Read more]

Assisted standing for DMD

Duchenne muscular dystrophy (DMD) is the most common X-linked neuromuscular disorder. When boys with DMD reach the second decade of life, they lose their ability to walk and become wheelchair dependent. Standing devices and orthoses are considered to be an essential component in the therapy management of DMD. Clinical opinion and research from other neurological … [Read more]

MYODA, the clinical development plan for Sarconeos (BIO101) in DMD, has just been authorised in the US

Sarconeos (BIO101), developed by Biophytis, is a drug molecule designed to combat sarcopenia. It promotes muscle regeneration and the maintenance of muscle strength by stimulating muscle protein synthesis and energy production, via the MAP kinase signalling pathways. The FDA has given its approval in the United States for the MYODA plan, in the context of … [Read more]