Duchenne muscular dystrophy

British and American researchers studied an international cohort of 196 children with Duchenne muscular dystrophy (DMD) in order to compare their motor performance with any associated neurodevelopmental impairment: the children were aged between 4 and 8 years and had never received long-term corticosteroid therapy, neurodevelopmental impairment (learning difficulties or language delay) was confirmed on the … [Read more]

Until recently, there was no specific tool for assessing the quality of life of children and adolescents with Duchenne muscular dystrophy (DMD). A group of French neuropaediatricians tested the French version of the PedsQL module dedicated to DMD: 107 DMD patients and their parents were included in the validation study, four dimensions were explored (daily … [Read more]

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, the 10-metre walking speed test and the time taken to rise from a seated position to the ground, their results were compiled and compared in a cohort of 826 DMD … [Read more]

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 soon as ankle dorsiflexion fell below 0° and before loss of walking ability. The study included 41 adolescents and young adults with Duchenne muscular dystrophy, aged between 15 and 20 … [Read more]

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]

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 to conventional corticosteroids. The European Union has just approved the marketing authorisation for vamorolone in DMD patients from the age of 4, based on the results of four trials in … [Read more]

In the dystrophin-deficient muscle of mouse, rat and dog models of Duchenne muscular dystrophy, there is activation of necroptosis, RIPK1 and RIPK3, key signaling molecules of programmed necrosis, as well as MLKL, a downstream effector of RIPK1 and 3. However, two studies have shown that inhibition of necroptosis can lead to impaired myogenesis and muscle … [Read more]

Genome editing is an emerging approach to the targeted treatment of Duchenne muscular dystrophy (DMD). Japanese researchers have conducted experiments using the CRISPR-Cas9 tool in induced pluripotent stem cells (iPSc): unlike other genome-editing tools that target one exon of the DMD gene, the system used can skip many exons at once, up to a total … [Read more]

A Franco-Italian team has studied the regeneration processes, fibro-adipogenic precursors and muscle stem cells in 24 muscle biopsies from patients with Duchenne muscular dystrophy (DMD): by establishing the myopathological trajectory of DMD, she demonstrated the existence of an increase in fibro-adipogenic cells parallel to a decrease in muscle regenerative capacity; this is correlated with impaired … [Read more]

A retrospective study of the occurrence of left ventricular damage in 455 boys with Duchenne muscular dystrophy, born between 1982 and 2009 and followed for an average of 10 years with a mean age at last check-up of 14.8 years shows that : 40.7% had left ventricular failure (ejection fraction less than 55% or shortening … [Read more]