Blog Archives

The thymus, a primary lymphoid organ, provides a complex environment essential for the generation of the T lymphocyte repertoire. Thymic alterations occur during life, either in the context of thymic involution during aging, or in the pathophysiological context of Myasthenia Gravis (MG). These changes involve complex regulatory networks, in which microRNAs (miRNAs) are key players. … [Read more]

Infections due to arboviruses (ARthropod-BOrne VIRUSes, arthropod-transmitted virus) have increased considerably worldwide in recent years. In humans, symptoms associated with an acute infection of most arboviruses are often described as a “dengue-like syndrome”, including fever, rash, conjunctivitis, arthralgia, and muscle symptoms such as myalgia, myositis or rhabdomyolysis. In some cases, muscle symptoms may persist for … [Read more]

Duchenne muscular dystrophy (DMD) is the most common neuromuscular disease, beginning in childhood. It gives rise to progressive muscle degeneration leading to loss of walking ability at an average age of between 10 and 12 years and is accompanied by serious cardiorespiratory complications from adolescence onwards. Current treatment guidelines include long-term corticosteroid therapy initiated from … [Read more]

The gene therapy product, Zolgensma® (onasemnogene abeparvovec), administered intravenously with a single injection, has just obtained conditional marketing authorisation from the European Commission for SMN1-related proximal spinal muscular atrophy (SMA). This conditional marketing authorisation relates to babies and young children weighing less than 21 kg presenting: a biallelic mutation on the SMN1 gene and a … [Read more]

A review of the medical-scientific literature published until October 1, 2019 on the epidemiology of Duchenne muscular dystrophy (DMD) was carried out by an Italian team. Based on around 40 studies, it has not only made it possible to estimate the prevalence of the disease for the first time worldwide, but also to assess the … [Read more]

MERRF syndrome, which combines myoclonic epilepsy and myopathy with red and shredded muscle fibers, is part of the wide spectrum of mitochondrial diseases. In this syndrome, neuropathies are common but no ganglionopathy has ever been reported. In an article published in June 2020, a French team including clinicians from the Institute of Myology retrospectively identified … [Read more]

SMA can start at all ages. It is clinically manifested by paralysis of varying age and severity, causing respiratory and orthopedic complications. Depending on the age of onset and the motor levels acquired, there are 4 types (from I to IV). Motor neuron degeneration is linked to a recessive mutation in the SMN1 gene, the … [Read more]

Pompe disease is a rare metabolic disease caused by abnormalities in the GAA gene, which codes for acid alpha-glucosidase, also called acid maltase. The infantile-onset of the disease causes early death in the absence of enzyme replacement therapy with alglucosidase alfa (Myozyme®), administered intravenously at the usual dose of 20 mg / kg / 14 … [Read more]

SMA is the second most common neuromuscular disorder in children. There are 4 types (from I to IV) depending on the age of onset of symptoms and the maximum functional abilities reached. SMA is the cause of paralysis, often progressing to respiratory failure and severe orthopedic deformities. The recent arrival of two innovative treatments based on … [Read more]