Blog Archives

In GNE myopathy, standard MRI shows the progression of fatty infiltration into the muscles of the lower limbs, which relatively spares the quadriceps. The quantitative MRI (qIRM) allows to refine the observation. It detects more subtle muscle changes early on and makes it possible to measure the affected areas, the percentages of fat, water … … [Read more]

The World Duchenne Awareness Day takes place on September 7th, 2020! After many years of research, hopes for treatments become reality, specifically for Duchenne Muscular Dystrophy, one of Telethon’s most emblematic diseases, which was at the root of parents’ fight and of the creation of AFM-Telethon by the association’s pioneers. A gene therapy trial, stemming … [Read more]

Idiopathic myositis, or inflammatory myopathies, are autoimmune diseases manifested by different symptoms depending on their type (dermatomyositis, inclusion myositis, etc.). All of them may be accompanied by dysphagia, which is sometimes the only symptom of myositis or its inaugural symptom. Swallowing disorders are also part of the classification criteria for myositis published in 2017. However, … [Read more]

French researchers from the National Reference Centre for Rare Peripheral Neuropathies in Limoges have developed a new approach to create motor neuron cell cultures from iPS cells generated from a skin sample in two patients with CMT linked to GDAP1 and 5 healthy subjects. Morphological, immunocytological and electrophysiological analyzes show that these cultured motor neurons … [Read more]

Mexiletine is a sodium channel blocker indicated in France for the symptomatic treatment of myotonic syndromes (myotonic dystrophies and non-dystrophic myotonias or channelopathies). The Summary of Product Characteristics, however, recalls that mexiletine has anti-arrhythmic properties and “may cause the occurrence of an arrhythmia or worsen a pre-existing arrhythmia diagnosed or not” requiring the establishment of … [Read more]

Spinal muscular atrophy (SMA) is currently classified into 5 different subtypes, from most severe (type 0) to the mildest (type 4) depending on the age of onset of the disease, the best motor function achieved and the number of copies of the SMN2 gene. Two recently approved treatments for SMA patients have revolutionized patients’ quality … [Read more]

The arrival of immune checkpoints inhibitors (ICI) in oncology has been a real revolution for treating cancers that until then had reached a therapeutic impasse. Aside from their effectiveness in boosting the anti-tumor action of the immune system, ICIs also promote the onset of autoimmune pathologies, for example inflammatory myopathies (myositis). A large-scale analysis A … [Read more]

Spinal muscular atrophy (SMA) is the second most common neuromuscular disorder in children and adults. There are 4 types (from I to IV) depending on the age of onset of symptoms and the maximum functional abilities reached. Most of the adult patients are aging patients from type II or III SMA, they rarely are type … [Read more]

The COMET clinical trial compared the efficacy and safety of neoGAA, a new generation enzyme therapy, with Myozyme, a standard treatment in Pompe disease, both developed by Sanofi-Genzyme. This double-blind, phase 3 trial involved 100 patients with late-onset disease in 56 different centers in 20 countries around the world. Preliminary analysis of the data after … [Read more]

Becker’s muscular dystrophy (or BMD for Becker muscular dystrophy) is an allelic variant of Duchenne muscular dystrophy (DMD). It is due to an incomplete and genetically determined deficiency of dystrophin, a key protein in the architecture of muscle fibers. Much less common than DMD (10% of all dystrophin deficits), it is due to mutations in … [Read more]