Myology research highlights

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]

A close relationship between nutritional status and respiratory muscle function has been demonstrated by clinicians at Raymond Poincaré Hospital (Garches) in 117 adults with Duchenne muscular dystrophy. Aged 18 to 39 years old, they all were on mechanical ventilation at home, in a wheelchair, and were not taking corticosteroids. To get to this conclusion, the … [Read more]

Autoimmune necrotizing inflammatory myopathy has a special place among autoimmune muscle diseases. Recently described, this entity is diagnosed on muscle biopsy with aspects more necrosis than inflammation, a muscle deficit of varying importance, an increase of CPK level and autoantibodies directed against the HMGCR and / or SRP. Taking statins is one of the triggers … [Read more]

SMA has recently experienced a spectacular acceleration at the therapeutic level. Genetically determined, this neuromuscular disease causes paralysis related to the degeneration of peripheral motor neurons and, for some affected children, earlybouleverser death. The arrival on the market of three drugs, Spinraza®, Zolgensma®, and Evrysdi® disrupts the natural history of the disease and raises many … [Read more]