Myology research highlights
RSS feedRecurrent compartment syndrome indicative of a genetically determined neuromuscular disease
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 clinicians report the observations of three patients in whom the final diagnosis of genetic myopathy was made in this context: in one case, it was a myopathy with mutations in … [Read more]
Combination of ribitol and gene therapy shows synergistic effects in LGMD R9 mouse models
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% ribitol at five weeks of age, followed four weeks later by administration of a dose of 1e13 vg/kg (low) or 5e13 vg/kg (high) of gene therapy (AAV9-FKRP). Compared with mice … [Read more]
A pilot project to detect and manage respiratory problems in pregnant women with neuromuscular disorders
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 at risk of developing respiratory disorders likely to have an impact on the pregnancy in progress or in the postnatal period, these women were able to benefit from prevention of … [Read more]
A stem cell model to assess the passage of the blood-brain barrier
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 neuromuscular diseases, including spinal muscular atrophy (SMA): three iPSC lines obtained were differentiated into endothelial cells involved in brain microvascularisation, a permeability index (endothelial electrical resistance or TEER) was defined, … [Read more]
Respiratory function in two CMDs is better understood
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 revealed respiratory impairment in both diseases. Respiratory function is more impaired in SELENON-related CMD than in LAMA2-related CMD, with more frequent mechanical ventilation and more severe diaphragm dysfunction. Spirometry and … [Read more]
The favourable results of topical application of sodium thiosulphate in dermatomyositis
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 dermatomyositis or scleromyositis with ectopic calcifications that were often multiple (calcinosis). After six months of daily applications of a sodium thiosulphate-based ointment (25%) prepared by the Limoges University Hospital pharmacy, … [Read more]
Sugar intake and exercise in McArdle disease
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 start of a 60-minute submaximal exercise test on an ergocycle, of a sweetened sports drink (in this case Faxe Kondi©) did result in a significant improvement in exercise tolerance, as … [Read more]
A paediatric form of myopathy with VCP deficiency
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 previously implicated in an autosomal dominant form of inclusion myopathy associated or not with Paget’s disease, motor neurone damage and frontotemporal dementia: 13 unrelated children were identified using the GeneMatcher … [Read more]
Thrombotic microangiopathy observed in the course of SRP autoimmune necrotising myopathy
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 of anti-SRP autoantibodies were consistent with this diagnosis, treatment consisted of corticosteroids and immunoglobulins, followed by tacrolimus, eight weeks after initiation of this treatment, thrombotic microangiopathy was observed and confirmed … [Read more]
The use of hand orthoses in boys with DMD
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 aged between 8 and 21 years (median age 17.7 years) and five of their parents, immediately after the intervention, and then, for five of them and three of their parents, … [Read more]
