Support our Foundation of Myology project
1678 news items
Research
Atypical mitochondrial profile in Jokela spinal muscular atrophy
On 17/01/2024
Jokela spinal muscular atrophy (JSMA), named after one of the researchers who identified it, is an ultra-rare variant of SMA not linked to 5q, with…
Research
A comparative study of different motor function assessment scales in DMD
On 17/01/2024
British specialists in the UK-NorthStar network have published comparative data on three motor function assessment tools used in Duchenne muscular dystrophy (DMD): the “NorthStar” scale,…
Research
The benefits of using KAFO orthotics in boys with DMD
On 17/01/2024
A retrospective Japanese study analysed the long-term effects of a standing stimulation programme using KAFO orthoses to support the knees, ankles and feet, applied as…
Research
Towards a consensus to establish new criteria for alveolar hypoventilation in children with neuromuscular disorders
On 16/01/2024
A group of fifteen American experts met to share their experience in the field of alveolar hypoventilation, which is frequently observed in neuromuscular disorders in…
Research
A meta-analysis of side effects associated with innovative treatments for SMA
On 15/01/2024
Chinese researchers have gone through the data published by the American FDA with great care concerning the clinical and biological safety of three drugs commonly…
Events
The Institute is recruiting a Research Assistant
On 15/01/2024
A 1-year position of research assistant (corresponding to Ingénieur d’étude) is available at the Center of Research in Myology (UMRS 974 Inserm and Sorbonne Université,…
Research
Recurrent compartment syndrome indicative of a genetically determined neuromuscular disease
On 15/01/2024
Compartment syndrome is usually traumatic in origin, leading to muscle tissue damage with secondary necrosis, linked to hyperpressure and the resulting oedema. English and Dutch…
Events
ERN EURO-NMD webinar, 18 January : Prof. Antonio Toscano (Italy)
On 11/01/2024
Rhabdomyolysis 18 January 2024 – 4pm Paris time Prof. Antonio Toscano (University of Messina, Italy) > + infos Organised by EURO-NMD in collaboration with…
Research
Combination of ribitol and gene therapy shows synergistic effects in LGMD R9 mouse models
On 11/01/2024
American researchers have sought to combine two therapeutic approaches in mouse models of FKRP-related limb-girdle muscular dystrophy type R9 (LGMD R9): oral supplementation with 5%…
Research
A pilot project to detect and manage respiratory problems in pregnant women with neuromuscular disorders
On 11/01/2024
The IT-NEUMA-Preg study was conducted in seven Italian hospitals between 2015 and 2022. Of the 94 pregnant women included : 24 were found to be…
Research
A stem cell model to assess the passage of the blood-brain barrier
On 10/01/2024
British researchers have developed induced pluripotent stem cell (iPSC) lines to test the permeability of the blood-brain barrier to two therapeutic agents used in several…
Research
Respiratory function in two CMDs is better understood
On 10/01/2024
A natural history study carried out over one and a half years in 11 people with SELENON-related congenital muscular dystrophy (CMD) and 26 with LAMA2…
Research
The favourable results of topical application of sodium thiosulphate in dermatomyositis
On 10/01/2024
The CATSS-O retrospective study, for Calcifications Treated by Sodium Thiosulphate – Observational, included data acquired between 2014 and 2020 from 35 patients, including 28 with…
Events
2024, a gesture for the muscle, for everyone’s health
On 10/01/2024
Dear patients and their families, Dear donors, Dear partners, All the teams and collaborators of the Institute of Myology send you their best wishes for…
Research
Sugar intake and exercise in McArdle disease
On 09/01/2024
A Dutch-Danish team conducted a randomised, double-blind, placebo-controlled crossover study involving nine patients with McArdle disease, or type V glycogenosis: ingestion, 10 minutes before the…
Research
A paediatric form of myopathy with VCP deficiency
On 08/01/2024
An international consortium of researchers has reported, for the first time ever, several paediatric cases of myopathy with a deficiency of VCP, a vasoline-containing protein…
Research
Thrombotic microangiopathy observed in the course of SRP autoimmune necrotising myopathy
On 04/01/2024
A Japanese team of neurologists and nephrologists report the observation of a 61-year-old patient diagnosed with autoimmune necrotising myopathy: the clinical history and the positivity…
Research
The use of hand orthoses in boys with DMD
On 03/01/2024
A Swedish qualitative study assessed the impact of wearing hand orthoses at rest on the quality of life of eight boys with Duchenne muscular dystrophy…
Research
A West Indian cohort of patients with juvenile dermatomyositis
On 30/12/2023
Specialists in rheumatology and neuromuscular pathology in the French West Indies report the clinical and biological data of 21 adolescents aged between 2.5 and 14…
Research
Histological and molecular confirmation of the tolerability of atorvastatin in dermatomyositis and antisynthetase syndrome
On 29/12/2023
A Brazilian team conducted a pilot study of the effects of atorvastatin 20mg/day versus placebo for 12 weeks in 20 people with stable dermatomyositis (DM)…