Myology research highlights

Myotonic dystrophy type 1 (DM1), one of the most frequent neuromuscular diseases in adults, is characterized by multisystemic clinical manifestations. It is due to an abnormal repeat of the CTG triplet in the DMPK gene. These abnormalities are particularly responsible for an increase in GSK3β enzyme activity, which alters the formation of muscle tissue and … [Read more]

In Italy, nusinersen (Spinraza®) is available for all types (from 1 to 4) of SMA, although the clinical trials which have demonstrated the efficacy of the product have concerned mostly children. To benefit from more data on the safety and efficacy of nusinersen in adults with SMA, a retrospective Italian study was conducted in 13 … [Read more]

Spinal muscular atrophy (SMA) is the second most common neuromuscular disease in children. Due to a genetically determined deficiency in SMN protein, SMA causes paralysis of the limbs and trunk, respiratory disorders and orthopedic complications, all the more so if it occurs early. There are four types (from I to IV) depending on the age … [Read more]

GNE gene, which encodes the GNE enzyme which is involved in the synthesis of sialic acid. Researchers compared the sialylation of glycoproteins and glycolipids in cell cultures from 3 patients with GNE myopathy and 3 control subjects. While there are many differences from one individual to another, they did not identify a typical sialylation profile … [Read more]

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]