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1385 news items
Research
A new glycogen overload myopathy
On 22/11/2023
French researchers report the discovery of a gene responsible for a new myopathy beginning in childhood and accompanied by an accumulation of glycogen in the…
Research
The expertise of the NMR laboratory used to monitor the growth of a patient’s heart – Interview with Benjamin Marty
On 21/11/2023
Benjamin Marty is co-leader of the NMR and Spectroscopy Laboratory at the Institute’s Neuromuscular Investigation Center. Together with Yves Fromes, also a researcher in this…
Research
Mariko Okubo awarded at the WMS for the discovery of a potential new role for lamins – Interview
On 21/11/2023
Mariko Okubo is a post-doctoral researcher in the Myology Centre for Research in the « Myomatrix & Myonucleus Related Diseases: Genetics & Pathophysiology » team.…
Research
Biology of T cells in neuromuscular diseases: the case of DMD and ALS
On 21/11/2023
In neuromuscular diseases of different pathogenic origins, there is growing evidence of a close interaction between the immune system, the nerve and the muscle. The…
Research
IV immunoglobulins are particularly effective against the cutaneous signs of dermatomyositis
On 20/11/2023
The good results of the international ProDERM trial, evaluating Octagam® intravenous immunoglobulin versus placebo in 95 adults with dermatomyositis, led to an extension of the…
Research
A natural history of paediatric RYR1-related congenital myopathies
On 20/11/2023
Two major London paediatric neuromuscular centres carried out a retrospective study of 69 children with RYR1-related myopathy followed up between 1992 and 2019: 29 presented…
Research
No correlation between fatigue and severity in SMA?
On 20/11/2023
The results of an online survey on the impact of fatigue in proximal spinal muscular atrophy (SMA) carried out by the Cure SMA association among…
Research
Mixed efficacy results for SRP-9001 (Elevidys), a gene therapy approved in the USA for DMD
On 20/11/2023
In a press release dated 30 October 2023, Sarepta Therapeutics announced the initial efficacy results of the Embark trial, a phase III trial of Elevydis…
Research
Study identifies key criteria for optimum wheelchair adjustment
On 17/11/2023
A study financed by the AFM-Téléthon sought to identify the main positioning criteria guaranteeing the health and quality of life of adult wheelchair users with…
Research
Efgartigimod active on different muscle groups in myasthenia gravis
On 17/11/2023
A post-hoc analysis of the results of the Adapt trial, which was conducted in France in 167 adults with a generalised form of autoimmune myasthenia…
Research
The development of arimoclomol stops in inclusion myositis
On 17/11/2023
With a prevalence of 1 in 200,000 in Europe, sporadic inclusion myositis is the most common idiopathic myositis after the age of 50. It is…
Research
Louise Benarroch wins Elsevier Runner Up Award at WMS 2023 – Interview
On 16/11/2023
Louise Benarroch is a post-doctoral researcher in the “Myomatrix & Myonucleus Related Diseases: Genetics & Pathophysiology” team led by Gisèle Bonne in the Institute’s CRM.…
Research
Myotubular muscular dystrophy: trial results show efficacy on respiratory and motor function, but challenges remain
On 16/11/2023
Yesterday, The Lancet Neurology published the clinical results of a gene therapy trial conducted by Astellas Gene Therapies, using a drug candidate developed at Genethon,…
Research
An overview of the management of mitochondrial diseases in Europe
On 16/11/2023
To gain a better understanding of the needs in terms of diagnosis, management and training in primary mitochondrial myopathies in Europe, a survey was carried…
Research
Myositis patients prefer subcutaneous Ig at home to intravenous infusions in hospital
On 16/11/2023
“I have regained control of my life”. This verbatim summarises the very consensual view of a group of seven adults with polymyositis or dermatomyositis on…
Research
Hypokalemic periodic paralysis may present as progressive muscle weakness with or without episodes of periodic paralysis
On 16/11/2023
A Danish team followed 37 people with hypokalaemic periodic paralysis due to CACNA1S mutations for three years (26 to 52 months): two were asymptomatic 21…
Research
Oculopharyngodistal and oculopharyngeal myopathies do not have the same pattern of muscle involvement on imaging
On 15/11/2023
Oculopharyngodistal myopathy (OPDM), which is very rare, differs from oculopharyngeal myopathy (OPMD) both genetically and clinically. Japanese researchers sought to identify these differences using magnetic…
Research
Three studies establish links between intestinal microbiota and myasthenia gravis
On 15/11/2023
The role of intestinal flora is the subject of sustained attention in medical research, particularly in dysimmune diseases such as myasthenia gravis. Various publications point…
Research
22nd meeting of the French network of “Emery-Dreifuss muscular dystrophies and other nuclear envelope pathologies” on November 10
On 14/11/2023
The 22nd French network meeting on “Emery-Dreifuss muscular dystrophies and other pathologies of the nuclear envelope” was held on Friday, November 10, 2023, from 9:15…
Research
When artificial intelligence helps analyse walking disorders
On 13/11/2023
Japanese researchers have developed an algorithm based on artificial intelligence (AI) to analyse changes in gait in several pathologies: 114 patients, including 45 with neuromuscular…