Myology research highlights

SMA is a degenerative disease of the lower motor neurons, responsible for paralysis of varying severity. A distinction is made between four types (I to IV) depending on the age of onset of the deficit and the maximum motor ability achieved by the patient. In the large majority of cases, one identifies, in the patient, … [Read more]

Duchenne muscular dystrophy (DMD) is the most common myopathy in children. It results in a progressive muscle deficit predominantly at the root of the limbs and is accompanied by cardio-respiratory complications leading to death at an early age. According to an old dogma and based only on a few scientific studies in animals, physical exercise … [Read more]

The neuromuscular diseases consist of a group of pathologies that are heterogeneous, both clinically and aetiologically. The element they have in common is involvement of a constituent part of a motor unit. The boundary between purely myopathic disease and neuropathy is sometimes blurred, as demonstrated by the work of an international consortium of researchers in … [Read more]

The paramyotonia congenita belongs to non-dystrophic myotonic syndromes. It is characterized by myotonia which paradoxically worsens during exercise and which can, if necessary, be disabling, especially in cold weather conditions. In the very large majority of cases, it is related to dominant mutations in the SNC4A gene encoding a voltage-gated sodium channel. Treatment remains symptomatic … [Read more]

While the anti-myostatin agents appear to be a tempting approach to restoring muscle in neuromuscular patients, of all the clinical trials in humans involving different drug molecules exercising this action (anti-myostatin antibodies, folliculin, drug molecules blocking or deceiving the myostatin receptors, etc.), none has demonstrated its efficacy, despite encouraging results in animal models, in particular … [Read more]

A significant number of neuromuscular diseases, foremost among them spinal muscular atrophy, Duchenne muscular dystrophy and certain congenital myopathies, are accompanied by restrictive respiratory disorders. Children suffering from these disorders are at-risk to develop hypoventilation, and possibly chest deformities. Over the years, non-invasive ventilation (NIV) stood out as an effective, and relatively easy to implement, … [Read more]

Facioscapulohumeral dystrophy (FSH) is one of the most common myopathies. There are two forms, FSH1 and FSH2. In both cases, the DUX4 gene is abnormally expressed in the muscles. In an effort to inhibit DUX4, Canadian researchers have optimized antisense oligonucleotides by coupling them to a peptide that favors their penetration into muscle cells. This optimized … [Read more]

Pompe disease (or Glycogen-storage disease type II) is a metabolic myopathy characterised by a deficiency of acid maltase or acid alpha-glucosidase, an enzyme that is necessary in glycogen degradation. The late-onset form of the disease (late-onset Pompe Disease or LOPD), although it has a better prognosis than the infant-onset form, can lead to highly incapacitating … [Read more]

There are still many cases of orphan hereditary neuromuscular diseases. This results in diagnostic error that is often harmful to the care of the patient himself/herself, but also to the family (genetic consultation). In this context, the development of high throughput sequencing or next-generation sequencing (NGS) techniques represents a major contribution. An article published in … [Read more]

Myasthenia gravis is a neuromuscular disease linked to the deleterious effects of autoantibodies directed against elements of the neuromuscular junction, mainly the acetylcholine receptor located in the postsynaptic region. This common disease results in typically fluctuating paralysis initially predominant in the eye muscles with possible generalization to other muscle groups, as well as greater fatigue. … [Read more]