Myology research highlights

Charcot-Marie disease (or CMT) is one of the hereditary sensory-motor neuropathies. It is the most common neuromuscular disease with an estimated prevalence of 1/2500 individuals. It causes motor disorders, more distal than proximal, sometimes very disabling, but also sensory disorders most often in the background. CMT remains extremely heterogeneous both clinically and genetically with more … [Read more]

This study aimed to assess associations between performance of the timed up-and-go (TUG) and the six-minute walk distance (6MWD) with physiological characteristics in healthy adults, young and old. In this perspective, the authors determined the TUG, the 6MWD, the normalized jump power, the displacement of the center of pressure when standing on one leg, the … [Read more]

The work of the Inherited Neuropathies Consortium (INC) have highlighted the involvement of the SORD gene in CMT2: they identified 45 people with SORD gene abnormalities with recessive axonal CMT (CMT 2) manifested by muscle weakness and deformities of the feet. half of them do not have sensitivity. in 69% of cases, it was sporadic. … [Read more]

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]