Blog Archives

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]

  This narrative review describes the current technology, applications, outcomes, and limitations of the dynamically growing field of telehealth. Evidence for telehealth applications related to neuromuscular diseases, palliative care, specialized multidisciplinary services, and musculoskeletal care are reviewed. With growing demand for specialized services and finite resources, telehealth provides a promising avenue to promote access to … [Read more]

Dysferlinopathies are a fairly heterogeneous group of hereditary muscular dystrophies resulting in distal (Miyoshi myopathy) proximal (type 2B LGMD), or mixed (proximal-distal) muscle deficiencies. These myopathies are due to mutations in the DYSF gene encoding dysferlin, a protein involved in membrane repair processes. Dysferlinopathies occur mainly in young adults and are often preceded by a … [Read more]

Even before their publication, the promising results of the rapamycin trial were reported at a congress and communicated in the press. Current drugs commonly used in inflammatory myopathies are ineffective or even accentuate muscle weakness in the case of sporadic inclusion body myositis (IBM). Rapamycin is a good candidate drug because it acts on three … [Read more]

Exercise is known to improve muscle health and strength in healthy individuals with Duchenne muscular dystrophy (DMD), as well as positively impact other systems. Because of this, exercise has been investigated as a potential therapeutic approach for DMD. This review aims to provide a concise presentation of the exercise literature with a focus on dystrophin … [Read more]

Sleep disruption and excessive daytime sleepiness are well recognised symptoms in myotonic dystrophy type 1 (DM1), where a central dysfunction of sleep-wake regulation may play a pivotal role. Few studies evaluated sleep macrostructure in DM1, but none investigated more refined sleep variables. Eight DM1 patients (6 male, aged 20-50 years) and 10 healthy controls (7 … [Read more]