Myology research highlights

SMA is characterized primarily by loss of muscle strength. Bulbar muscles and muscles involved in gastrointestinal transit are also affected, but they have not been as studied as skeletal muscles. Difficulties in eating (swallowing, chewing, weight gain or loss, etc.) have frequently been reported in type I SMA and sporadically in type III SMA. In … [Read more]

Webinar organised by EURO-NMD in collaboration with ERN-RND and EAN   Monday 11 March 2021 – 4:00 am (Paris time)   Telemedicine in NMD: state of the art   Prof Sabrina Sacconi (CHU Nice , France) and Prof Gabriele Siciliano (University Hospital Pisa, Italy )   You may register here: https://aim.zoom.us/webinar/register/WN_5LBXfwhxTVydKwnbjhc6Iw

If there are large numbers of patients with hereditary sensory-motor neuropathies (or CMT for Charcot-Marie-Tooth disease), it is not the same for the « pure motor » forms, also known as of spinal CMT or Distal hereditary motor neuropathies (dHMN). These forms are autosomal recessively or dominantly inherited and are due to mutations in less than 20 … [Read more]

Myasthenia gravis is caused by antibodies directed against the neuromuscular junction. Approximately 10% of patients present a generalised form, resistant to normal treatments. In this situation, different therapeutic approaches can be considered, in particular complement component 5 inhibition (C5 inhibitor) with, for example zilucoplan, ravulizumab or eculizumab. The latter obtained European marketing authorisation in 2017 … [Read more]

Facioscapulohumeral muscular dystrophy (FSHD) affects 4.5 per 100,000 people in Europe. It typically manifests as muscle weakness with a specific pattern, since it affects the muscles of the face and those around the shoulder blades. The most common form, FSHD type 1, is the result of contraction of the repeated D4Z4 units in the 4qA … [Read more]

Sporadic inclusion myositis combines inflammatory processes and muscle degeneration. It is the most common myositis after the age of 50, but also the only one that is unresponsive to the usual treatments for these autoimmune diseases (corticosteroids, immunosuppressants). Between 2015 and 2017, Prof. Olivier Benveniste’s team led, with the financial support of AFM-Téléthon, a single-center, … [Read more]

The 10th French Pompe disease Day took place on 28 January 2021 by videoconferencing. It brought together over 80 experts, and provided the opportunity not only to review the consequences of the health crisis on patient care, but also to provide an overview of the various trials currently underway or in preparation in France. Although … [Read more]

Facioscapulohumeral myopathy (FSH) results in progressive damage to the muscles of the face, the fixators of the scapula, the muscles of the trunk and the levator muscles of the feet. There are two types, FSH1 (95% of cases) and FSH2 (5% of cases). In both types, the DUX4 gene is abnormally expressed. It encodes the … [Read more]

Myasthenia gravis is a neuromuscular immune mediated disease particularly common in adulthood. It is caused by the deleterious action of antibodies produced by the individual and directed against one or more components of the neuromuscular junction. It usually results in a fluctuating deficit in the ocular musculature and is generalized in a significant number of … [Read more]

The golodirsen (Vyondys 53 – SRP-4053) antisense oligonucleotide (Sarepta Therapeutics) targeting exon 53 skipping of the dystrophin gene (DMD gene) has been authorised in the United States in Duchenne muscular dystrophy (DMD) since February 2020. New data from the phase I/II trial of golodirsen (which ended in 2019) has just been published in the journal … [Read more]