Blog Archives

It is in the current, unprecedented health context that the World Muscle Society (WMS) organised its first 100% virtual Congress for the 25th edition. From 28 September to 2 October 2020, researchers, clinicians and other muscle experts were invited to connect to a platform, to listen and then participate in video-conferences, view “e-Posters”, follow symposia … [Read more]

Myasthenia gravis generates fluctuating muscle weakness with fatigability, related to dysfunction of the neuromuscular junction. The rapid onset of motor deterioration and respiratory and bulbar difficulties (dyspnea, congestion, pulmonary aspiration, etc.) characterize a myasthenic crisis. This is a life-threatening emergency that requires intensive care hospitalization. This event triggers post-traumatic stress disorder (PTSD) in more than … [Read more]

Recently authorized in Europe, Zolgensma® (onasemnogene abeparvovec) is one of the innovative treatments for SMA, along with Spinraza® (nusinersen) and Evrysdi® (risdiplam). All of these therapies are most effective if they are administered as early as possible. To encourage the rational prescription of Zolgensma®, a group of European neuromuscular disease experts issued eleven recommendations on: … [Read more]

If the management of type 1A Charcot-Marie-Tooth disease (CMT1A) is symptomatic (physiotherapy, orthopedic surgery, etc.), several molecules have been evaluated or are still being evaluated during clinical trials. A team from the “Familial amyloid neuropathies and other rare neuropathies (NNERF)” reference centre reviews the therapeutic avenues targeting this hereditary neuropathy: IFB-088, developed by Inflectis Bioscience, … [Read more]

A rare autoimmune disease, dermatomyositis generates inflammatory damage to muscles and skin. Its juvenile form begins at the median age of 7 years. Many patients experience persistent muscle fatigue and weakness, even when treatment (corticosteroids, immunosuppressants) results in true remission. These manifestations could be due in part to energy disorders, with in particular a possible … [Read more]

Titin is a muscle protein that gets its name from its “titanic” size. Coded by the TTN gene, it forms the essential backbone of the contractile apparatus of the muscle fiber and interacts with many other proteins in this cell compartment. It is only relatively recently that neuromuscular pathologies, that is titinopathies, have been associated … [Read more]

Duchenne muscular dystrophy (DMD) is the most common neuromuscular disease in boys. Inherited by an X-linked recessive mode, it is caused by a lack of dystrophin which causes progressive muscle deficit, cardio-respiratory complications and premature death. Chronic administration of oral corticosteroids remains the treatment standard for slowing the progression of the disease and delaying loss … [Read more]

Nearly 95% of patients with SMA would have a homozygous loss of SMN1 (no copies of the SMN1 gene). About 5% would present a heterozygous loss of SMN1 (absence of the SMN1 gene on one chromosome and genetic variant on the other). Among the most widely used methods to perform the genetic diagnosis of SMA … [Read more]

Duchenne muscular dystrophy (DMD) is the most common neuromuscular disease in boys. Due to the genetically determined absence of dystrophin, a key protein of muscle fiber, it causes progressive proximal muscle deficit and cardio-respiratory complications leading to premature death. Oral glucocorticoids, such as prednisone or deflazacort, have become the treatment of choice for the maintenance … [Read more]

Spinal muscular atrophy is the second most common neuromuscular disease in children but also affects adults. Due to a genetically determined deficit in SMN protein, SMA can lead to paralysis of the limbs and trunk, respiratory disorders and orthopedic complications, especially if it occurs early. There are four types (from I to IV) depending on … [Read more]