Our science & medical news

RSS feed

Lessons from the long-term follow-up of over 200 adults with myasthenic syndrome in France

A retrospective study based on data from 235 adults collected by a total of 23 French expert centres, during a follow-up period averaging 34 years, shows all the diagnostic difficulties of congenital myasthenic syndromes, with :

  • onset in adulthood in 12.3% of cases,
  • an average delay before clinical diagnosis of 17.2 years and before genetic diagnosis of 22 years,
  • an initial misdiagnosis in 58.7% of patients (congenital myopathy, seronegative autoimmune myasthenia, muscular dystrophy, etc.).

The results of this major study also highlight the importance of having a genetic diagnosis, as this has an influence on the phenotype and course, as well as on the risks of exacerbation, respiratory assistance and loss of walking ability. However, the majority of patients in the French cohort had a favourable long-term prognosis and were neither ventilated nor using a wheelchair at the time of their last consultation.


Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis. Theuriet J, Masingue M, Behin A et al. Brain. 2024 May 2:awae124.

Inclusion myositis and sirolimus: the final results of the Rapami trial pave the way for a phase III

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

Effect of sirolimus on muscle in inclusion myositis observed by MRI and spectroscopy

Harmen Reyngoudt is co-director of the Institute’s NMR imaging and spectroscopy laboratory. He has just published an article* in J Cachexia Sarcopenia Muscle on the effect of sirolimus on muscle assessed by magnetic resonance imaging and spectroscopy. Interview with Harmen Reyngoudt. What is the background to this work? In order to make progress in clinical … [Read more]

The wide variety of clathrin assemblies

Clathrin is a protein that forms triskels that assemble into honeycomb-like networks on the plasma membrane, but also on internal membranes, such as the Golgi apparatus and tubular endosomes. Clathrin assemblies mainly regulate the intracellular trafficking of various protein components. Clathrin also has non-endocytic functions in cell adhesion through interactions with specific integrins. It contributes … [Read more]

MYOLOGY 2024: focus on the institute speakers

The 8th International Congress of Myology will be held in Paris from 22 to 25 April 2024. Here are the eight themes that experts from the Institute of Myology will be presenting to the international community over the next few days:   Tuesday 23 April – Muscle Fibrosis / Ageing Session 11h30 : Capucine Trollet … [Read more]

GDF5, a “rejuvenating” treatment for age-related neuromuscular deficiency in mice

A study conducted by the MOOVE* research team headed by France Pietri-Rouxel, in collaboration with several teams from the Institute and Sorbonne University, has just been published in Brain**. It focuses on the effects of chronic administration of a factor, GDF5, on age-related neuromuscular deficiency (sarcopenia) in mice. Sarcopenia is an age-related disease involving excessive … [Read more]

Clinicians and researchers from the Institute at the Journées de neurologie de langue française

The Journées de neurologie de langue française will be held in Paris from 9 to 12 April 2024. The main aim of these days is to promote and develop neurology in France and other French-speaking countries. The aim is also to encourage exchanges between the various societies and associations concerned with the nervous system. Experts … [Read more]

Atamyo Therapeutics obtains authorisation to launch a gene therapy clinical trial in limb-girdle muscular dystrophy linked to SGCG

Following several proofs of concept, Atamyo Therapeutics, a spin-off from Geenethon, has obtained authorisation to start a new gene therapy trial in patients suffering from limb-girdle muscular dystrophy (LGMD) R5 linked to SGCG (gamma-sarcoglycanopathy). Its aim is to test the safety, pharmacodynamics and efficacy of ATA-200, a product resulting from the work of Isabelle Richard, … [Read more]

Experts from the institute will present their research findings at Myology 2024

Researchers and clinicians from the Institute of Myology will be presenting their findings at the next international myology congress, Myology 2024, organized by AFM-Téléthon from April 22 to 25. Over 70 international speakers will take the floor in 23 plenary and parallel sessions and 7 industry symposia, and more than 400 scientific posters will be … [Read more]

Natural history of X-linked myopathy with excessive autophagy

X-linked myopathy with excessive autophagy (XMEA) is a little-known disease linked to the VMA21 gene. It leads to autophagy failure with progressive vacuolation and atrophy of skeletal muscles. The aim of this retrospective study, conducted by French teams including researchers and clinicians from the Institut de Myologie, was to define the clinical, radiological and natural … [Read more]