Myology research highlights

The team from the Institute of Genetics and Molecular and Cellular Biology (Strasbourg) has developed a viable mouse model of centronuclear myopathy, defective of the BIN1 gene selectively in muscles. BIN1 encodes amphiphysin 2, a protein that controls the curvature of membranes.  Dynamin 2 is an effector protein of amphiphysin 2, encoded by DNM2.  Injection … [Read more]

The nemaline-myopathies are well known to pediatricians because of a revelation most often neonatal or in the first months of life. However, it is also found in adults, who suffer from a non-hereditary form with late onset. This form is referred to by the acronym SLONM (for Sporadic Late Onset Nemaline Myopathy). It results in … [Read more]

Myasthenia gravis is not known to usually cause pain.  However, 70% of patients feel it according to a study of 108 people followed for stable myasthenia gravis at the Raymond-Poincaré Hospital in Garches and presented at the Neuromuscular Days in Marseille, France, in September 2021.  These pains are mainly muscular, axial and triggered by movement, … [Read more]

Patients with myasthenia gravis often complain of a feeling of fatigue, sometimes severe and resistant at rest.  A study based on self-administered questionnaires answered by 779 adults with myasthenia gravis shows that their fatigue (assessed by the MFI-20 score) is more often “general” or “physical” and that its level turns out to be inversely correlated … [Read more]

MELAS syndrome is one of the mitochondrial diseases described mainly in adults. As its acronym suggests, it combines myopathy (M), encephalopathy (E), lactic acidosis (LA) and pseudo-stroke (S). To this complex and protean picture can be added cardiac complications of various types (abnormalities of myocardial contractility, conduction disorders, etc.). MELAS syndrome is transmitted by maternal … [Read more]

Zolgensma (onasemnogene abeparvovec) is the first approved gene therapy treatment in SMA via intravenous administration.  A new trial of the intrathecal administration gene therapy product is planned in over 100 participants with type II SMA, treatment-naïve and aged 2 to 18 years, able to sit up but having never walked. This randomized, double-blind, phase III … [Read more]

In clinical practice, it is not always easy to distinguish between hereditary motor and sensory neuropathy (the prime example being Charcot-Marie-Tooth disease or CMT) and disorders of the lower motor neuron (referenced under different terms such as distal spinal muscular atrophy, distal motor neuronopathy, etc.). Both clinical and electrophysiological assessment of the sensory component can … [Read more]

Dermatomyositis is an inflammatory autoimmune disease that affects the skin and muscles, with vasculopathy. Like a genetic interferonopathy, it is accompanied by an overexpression of genes dependent on type 1 interferon, which activates the janus kinase signaling pathway – signal transducers and activators of transcription (JAK- STAT). In 2018, researchers from the Institute of Myology helped … [Read more]

Polyvalent immunoglobulins (Ig) have been shown to be effective in treating exacerbations of myasthenia gravis (myasthenic seizure). The results of two retrospective studies, published in 2021, testify to their interest also in background regimen.   Effective enough to lighten the rest of the prescription The first study, Canadian, involved 34 patients with generalized myasthenia gravis … [Read more]

Oculopharyngeal muscular dystrophy (OPMD) is a muscular disease of very late onset, most often after the age of fifty, and which mainly results in slowly progressive damage to the muscles of the eyelids, face, pharynx and pelvic girdle. Inherited in an autosomal dominant mode, it is found on all continents with several clusters identified in … [Read more]