Myology research highlights

Viltolarsen (NS-065 / NCNP-01) is an antisense oligonucleotide developed by the Japanese laboratory Shinyaku Co. Ltd. that targets the skipping of exon 53 in the dystrophin gene in Duchenne muscular dystrophy. Viltolarsen has been authorized in Japan since March 2020, an authorization which was based on two clinical trials, an American phase II trial whose … [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, in other words titinopathies, have been … [Read more]

Myosinopathies, or myosin overload myopathies, are a recently described group of genetically determined neuromuscular disorders related to congenital myopathies. Among them, the autosomal dominant form initially described by Nigel Laing in the context of distal myopathies is due to mutations in the MYH7 gene. The latter encodes a heavy chain of myosin expressed in the … [Read more]

Online at the beginning of December 2020 on the website of the French National Authority for Health (Haute Autorité de Santé or HAS), the good practice recommendation on tracheostomy in the management of ventilatory dependence in patients with slowly progressive neuromuscular diseases. It aims to help decision-making and to improve and harmonize care practices. The … [Read more]

Different forms of congenital myasthenic syndromes (CMS) are identified depending on the location of the modified protein in the neuromuscular junction site. Thus there are presynaptic SMCs, synaptic SMCs and postsynaptic SMCs. In addition, there are SMCs linked to a glycosylation deficiency of proteins which may be proteins at the neuromuscular junction such as the … [Read more]

A patient with neuromuscular disease can’t be anesthetized like others, agreed. But what are the best practices? A Dutch team brought them together in an article published in October 2020. This publication details each step (preoperative assessment, premedication, etc.) and their risks. It also provides specific instructions by disease or group of diseases (including unlabeled … [Read more]

Spinal muscular atrophy (SMA) is a degenerative motor neuron disease which results in paralysis of very varying age and severity. There are four types depending on the age of onset and the best motor function achieved. Infants with type I are by far the most common (50 to 60%) but also the most severely affected. … [Read more]

DM1 is one of the most common neuromuscular diseases in adults. It causes a pluri-systemic attack: the skeletal muscle, the heart, the endocrine glands, the lens, among others, can be affected to varying degrees. The disease is progressive, disabling and frequently accompanied by psycho-cognitive disorders that can lead to social isolation. In an article published … [Read more]

Charcot-Marie-Tooth disease (CMT) is one of the most common hereditary neuropathies. Very heterogeneous from a clinical and electrophysiological point of view, but also genetically (nearly a hundred known genes, all forms included), CMT causes a distal motor deficit predominant in the muscles of the feet and hands. In later onset forms, especially in the elderly, … [Read more]

SMA sma is the second most common neuromuscular disease in children. It is due to a genetically determined deficit in SMN protein and results in paralysis of the limbs and trunk of varying severity. There are four types depending on the age of onset and the the best motor function achieved (type 1 to 4). … [Read more]