Duchenne muscular dystrophy
RSS feedDMD: altered iron metabolism in cardiomyocytes corrected by deferoxamine or pioglitazone
A Polish team has investigated the mechanism involved in Duchenne cardiomyopathy by studying the transcriptome and proteome of exon 50-deleted cardiomyocytes derived from human iPS cells. She found : a decrease in mitoNEET protein levels ; an increase in labile iron in the cytoplasm and mitochondria; a decrease in ferroportin ; an increase in ferritin … [Read more]
Biphosphonates and DMD: a review of the literature confirms the 2018 management recommendations
A review of the literature on the use of biphosphonates found in 19 publications concerning 1,010 children and adults with Duchenne muscular dystrophy (DMD) treated with corticosteroids: a high level of evidence that biphosphonates improve bone density in the areolar bone of the vertebral bodies of these patients; greater improvements in patients treated with intravenous … [Read more]
After re-examination, the CHMP’s opinion on Translarna’s marketing authorisation for DMD remains unfavourable
On 15 September 2023, the Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency (EMA) decided against renewing the marketing authorisation for Translarna (ataluren) in Duchenne muscular dystrophy (DMD). Developed by the laboratory PTC Therapeutics, the drug has until now benefited from a conditional marketing authorisation granted by the EMA for … [Read more]
A review of serious digestive complications in adults with DMD
Based on four emblematic individual cases of young adults with Duchenne muscular dystrophy (DMD), a British team studied and reviewed life-threatening digestive complications: DMD patients were between 24 and 28 years old, three out of four had never received long-term corticosteroid therapy, all had minor digestive problems such as constipation and/or dysphagia, depending on the … [Read more]
Tamoxifen is well tolerated but does not show significant clinical efficacy
The European phase III multicentre randomised placebo-controlled TAMDMD trial (NCT03354039) evaluated, from May 2018 to October 2020, 20 mg of tamoxifen daily for 48 weeks in 78 boys with Duchenne muscular dystrophy (DMD), aged 6.5 to 12 years, on corticosteroids. Changes in the D1 dimension of the measure of motor function (MFM) were not significantly … [Read more]
Motor difficulties more pronounced in children with DMD who have associated neurodevelopmental impairment
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]
The French version of the PedsQL® quality of life scale adapted to DMD is now validated
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]
A comparative study of different motor function assessment scales in DMD
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]
The benefits of using KAFO orthotics in boys with DMD
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]
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]
