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1385 news items
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…
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…
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)…
Research
Stamina updates and refines the epidemiology of myasthenia gravis in France
On 28/12/2023
Using the French National Health Data System (SNDS), the Stamina study analysed information on patients hospitalised for myasthenia gravis or on long-term care for this…
Research
Recommendations for the diagnosis and management of Danon disease
On 27/12/2023
Danon disease is a muscular glycogenosis with a preferential cardiac tropism and is due to deleterious anomalies in the LAMP2 gene encoding a lysosomal enzyme:…
Research
Two new biomarkers useful for diagnosing inclusion myositis and autoimmune necrotizing myopathy
On 26/12/2023
Three Belgian researchers tested the diagnostic value of two serum markers in muscle pathology: the chemokine CXCL10 and the cytokine GDF5. These biomarkers were measured…
Research
guide to systematic screening for cancers associated with myositis
On 21/12/2023
At the initiative of the international consortium IMACS (International Myositis Assessment and Clinical Studies Group), experts in adult idiopathic inflammatory myopathies have drawn up recommendations…
Research
Vamorolone (Agamree®) now authorised in Europe for DMD from the age of 4
On 20/12/2023
Vamorolone (drinkable suspension, 40 mg/ml) is a “dissociative” synthetic steroid developed by Santhera and ReveraGen for Duchenne muscular dystrophy (DMD), as an anti-inflammatory treatment alternative…
Research
Pompe’s disease: beneficial effect of long-term physical activity, especially if training is personalised
On 20/12/2023
The physical fitness of 19 people with moderate Pompe’s disease who took part in a 12-week personalised training programme in the Netherlands in 2011 was…
Research
The largest cohort of disorders associated with fetal anti-acetylcholine receptor antibodies
On 19/12/2023
A large international collaboration has reported 46 cases associated with maternal anti-fetal acetylcholine receptor antibodies (fRACh), the largest cohort ever described to date. The 30…
Research
McArdle’s disease: what impact on patients’ social participation?
On 18/12/2023
The EUROMAC registry brings together information from 269 people with McArdle’s disease from eight European countries, including France, as well as the United States. A…