Blog Archives
CMT: Expert consensus on the management of deformities of the feet and ankles
Hereditary sensory-motor neuropathies (HSMN also described as Charcot-Marie-Tooth disease or CMT) are characterized, in addition to their great genetic heterogeneity (more than 80 genes involved), by a predominantly distal muscle deficit and sensory disorders of very variable intensity. Orthopedic deformities, especially of the feet, are very often reported (hollow foot, varus foot, or a combination … [Read more]
Long-term benefit of ERT in adults with Pompe disease
Pompe disease is caused by a mutation in the GAA gene, which codes for acid alpha-glucosidase. The standard treatment is enzyme replacement therapy (ERT), which consists in providing a recombinant enzyme to compensate for the lack of acid alpha-glucosidase (Myozyme®). More than 90% of patients diagnosed in France are adults. Since the commercialization of enzyme … [Read more]
In dystrophic mdx mouse, desmin prevents muscle wasting, exaggerated weakness and fragility and fatigue
Duchenne muscular dystrophy (DMD) is a serious neuromuscular disease caused by a dystrophin deficiency. Desmin, like dystrophin, is associated with costameric structures connecting the sarcomeres to the extracellular matrix which contributes to muscle function. In this study, French experts including researchers from the Institute of Myology tried to provide additional information on the roles of … [Read more]
miR-379 links glucocorticoid therapy to mitochondrial response in DMD
Duchenne muscular dystrophy (DMD) is a lethal muscle disease caused by mutations in the DMD gene. It affects around 1 in 5,000-6,000 boy births. In this report, the authors identified a deregulation of members of the miRNA Dlk1-Dio3 cluster in muscle biopsies of the GRMD dog model. Among these, they selected miR-379 to be analyzed … [Read more]
CMT and pregnancy : a study conducted in Germany confirms scarcity of complications
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]
What is the purpose of the exon 31 in the modelling of clathrin structures in muscle cells? – Interview with S. Vassilopoulos
Interview with Stéphane Vassilopoulos, researcher at the Muscle Organization & Therapy of Dominant Centronuclear Myopathy laboratory in Team 2 at the Institute of Myology Research Centre, headed by Marc Bitoun. He and his group are interested in the muscle cell membrane proteins, and more particularly in clathrin and its involvement in myopathies and just published … [Read more]
Determinants of performance of the timed-up-and-go and 6-minute walk tests in young and old healthy adults
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]
CMT: the SORD gene could be involved in almost 10% of undiagnosed CMT2 cases
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]
Myasthenia gravis : role of miRNAs in normal and pathological thymus
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]
Arboviruses and muscle disorders: from pathology to cell biology
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]
