Blog Archives
Fête de la Science from 4 to 14 October
Organised every year by the Ministry of Higher Education and Research, the event aims to give everyone the chance to discover the world of science and meet the men and women who make up today’s science. This year’s Fête de la science runs from 4 to 14 October 2024. The AFM-Téléthon is taking part in … [Read more]
Losmapimod fails in facioscapulohumeral myopathy
The initial results of the REACH Phase III placebo-controlled trial evaluating losmapimod in 260 adults with FSHD1 or FSHD2 over one year have just been announced by the Fulcrum Therapeutics laboratory in charge of its development, and they’re not good. Losmapimod failed to meet the trial’s main endpoint, namely to improve measurement of the relative … [Read more]
The Fondation Leducq has recently awarded funding to the PRIORITY international network of excellence, coordinated by Dr Gisèle Bonne.
The PRIORITY international network of excellence has just been awarded an $8,000,000 grant from the Fondation Leducq. PRIORITY is a research consortium of 8 partners, 4 from Europe and 4 from North America*, which will work on LMNA gene-related dilated cardiomyopathy (LMNA-DCM). PRIORITY will be coordinated by Dr Gisèle Bonne (Institut de Myologie, France) and … [Read more]
The relationship between muscle strength and function in the upper limb now better established in DMD and SMA
Researchers coordinated by the Institute of Myology have studied the threshold of muscle strength loss beyond which motor function is compromised in the hand: 91 patients with Duchenne muscular dystrophy (DMD) and 77 with SMN1-related proximal spinal muscular atrophy (SMA) took part in the study, hand grip strength and thumb-index grip strength were measured using … [Read more]
Congenital myasthenic syndrome linked to CHRNE: forms of variable severity
A phenotypic study of a series of 91 Bulgarian Roma patients with congenital myasthenic syndrome linked to the homozygous c.1327delG mutation of the CHRNE gene, aged between one and 64 years, revealed three groups of differing severity: 44 patients, with an average age of 23.7 years, had a mild form; twenty-six others, with an average … [Read more]
15 September: International Myotonic Dystrophy Awareness Day
15 September is International Myotonic Dystrophy Awareness Day. Its aim is to raise awareness on this neuromuscular disease among the medical profession, politicians and the general public, in order to improve diagnosis, care and support for patients, and also to speed up the development of medicines. This 4th edition will place particular emphasis on two … [Read more]
Description of a fifth family of type 4 distal oculopharyngeal myopathy
Distal oculopharyngeal myopathy (DOPM) type 4 is due to a CGG repeat expansion in the RILP1 gene. First described in 2022, it has only been reported in four Chinese families. It manifests as ptosis in the third decade, ophthalmoplegia between the ages of 25 and 35, and dysphagia and dysarthria between the ages of 30 … [Read more]
A comparison focusing on thymic histology between different cohorts of myasthenia gravis
Researchers at the Institute of Myology used a French database to compare early-onset (217) and classic forms of myasthenia (721): the files from this database were analysed clinically, immunologically and histologically (data from examination of the thymus when it had been removed), juvenile forms of myasthenia were subdivided into two groups according to age of … [Read more]
The SH3 domain interactome of amphiphysin 2 in centronuclear myopathies
While amphiphysin 2 uses its BAR domain to anchor to cell membranes and cause them to bend, it also has an SH3 domain at the other end that enables it to interact with other proteins, in particular dynamin 2, cavin 4 or another amphiphysin 2 molecule. Using a new approach to studying the interactome, the … [Read more]
What about the use of statins in hereditary myopathies?
An Israeli expert in neuromuscular diseases has examined the still controversial issue of statins in routine myological practice. Based on the literature, the author draws the following conclusions: this class of cholesterol-lowering drugs is known for its potential direct or indirect muscle toxicity, in the form of autoimmune necrotising myopathy (ANIM) or, less dramatically, simple … [Read more]
