Myology research highlights

MELAS syndrome, for Mitochondrial myopathy Encephalopathy Lactic Acidosis Stroke-like, is a rare disease. It can occur as myopathy, encephalopathy, lactic acidosis and acute neurological features like pseudo-cerebrovascular accidents. It is a mitochondrial myopathy, caused by mutations in mitochondrial DNA. It can cause visual disturbances, in particular by cortical damage. A team of Japanese ophthalmologists conducted … [Read more]

Pompe disease is a lysosomal disease caused by the lack of an enzymatic protein involved in glycogen breakdown. Inherited in an autosomal recessive mode, it results almost constantly in restrictive respiratory failure. A distinction is made between the infant form, which appears very early and has a poor prognosis (IOPD for Infantile Onset Pump Disease) and … [Read more]

McArdle’s disease (or type V glycogenosis) is the most common metabolic myopathy. It is characterized by exercise intolerance with myalgia, cramps, muscle weakness. It is often accompanied by rhabdomyolysis, hyperCKemia and myoglobinuria, which can lead to acute renal failure.   A European register of muscular glycogenosis The EUROMAC register was set up with the support … [Read more]

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]