Results 31 to 40 of about 71,356 (167)
Gait Characterization in Duchenne Muscular Dystrophy (DMD) Using a Single-Sensor Accelerometer: Classical Machine Learning and Deep Learning Approaches [PDF]
arXiv, 2021 Differences in gait patterns of children with Duchenne muscular dystrophy (DMD) and typically-developing (TD) peers are visible to the eye, but quantifications of those differences outside of the gait laboratory have been elusive. In this work, we measured vertical, mediolateral, and anteroposterior acceleration using a waist-worn iPhone accelerometer ...
arxiv
Shape Analysis for Pediatric Upper Body Motor Function Assessment [PDF]
arXiv, 2022 Neuromuscular disorders, such as Spinal Muscular Atrophy (SMA) and Duchenne Muscular Dystrophy (DMD), cause progressive muscular degeneration and loss of motor function for 1 in 6,000 children. Traditional upper limb motor function assessments do not quantitatively measure patient-performed motions, which makes it difficult to track progress for ...
arxiv
Gene editing restores dystrophin expression in a canine model of Duchenne muscular dystrophy
Science, 2018 Gene editing and muscular dystrophy Duchenne muscular dystrophy (DMD) is characterized by progressive muscle weakness and a shortened life span. The disease is caused by mutations that reduce or prevent expression of dystrophin, an essential structural ...
L. Amoasii +12 more
semanticscholar +1 more source
Cardiac function associated with home ventilator care in Duchenne muscular dystrophy [PDF]
Korean Journal of Pediatrics, 2018 PurposeCardiomyopathy is becoming the leading cause of death in patients with Duchenne muscular dystrophy because mechanically assisted lung ventilation and assisted coughing have helped resolve respiratory complications.
Sangheun Lee +3 more
doaj +1 more source
Life expectancy at birth in Duchenne muscular dystrophy: a systematic review and meta-analysis
European Journal of Epidemiology, 2020 Several studies indicate that prognosis for survival in Duchenne muscular dystrophy (DMD) has improved in recent decades. However, published evidence is inconclusive and some estimates may be obsolete due to improvements in standards of care, in ...
E. Landfeldt +5 more
semanticscholar +1 more source
Advances in Dystrophinopathy Diagnosis and Therapy
Biomolecules, 2023 Dystrophinopathies are x-linked muscular disorders which emerge from mutations in the Dystrophin gene, including Duchenne and Becker muscular dystrophy, and dilated cardiomyopathy.
Fawzy A. Saad +2 more
doaj +1 more source
Increased dystrophin production with golodirsen in patients with Duchenne muscular dystrophy
Neurology, 2020 Objective To report safety, pharmacokinetics, exon 53 skipping, and dystrophin expression in golodirsen-treated patients with Duchenne muscular dystrophy (DMD) amenable to exon 53 skipping.
D. Frank +14 more
semanticscholar +1 more source
Journal of Medical Case Reports, 2011 Introduction Diamond-Blackfan anemia and Duchenne muscular dystrophy are two rare congenital anomalies. Both anomalies occurring in the same child is extremely rare.
Kaur Jasmeet +5 more
doaj +1 more source
Palliative care services in families of males with muscular dystrophy: Data from MD STARnet
SAGE Open Medicine, 2019 Introduction: Information on use of palliative care services among individuals with Duchenne and Becker muscular dystrophy is scant despite the clearly documented need.
Jennifer G Andrews +6 more
doaj +1 more source
Journal of Patient-Reported Outcomes, 2021 Background Duchenne muscular dystrophy is a rare genetic neuromuscular disorder, which can result in early death due to disease progression. Ataluren is indicated for the treatment of nonsense mutation Duchenne muscular dystrophy, in ambulatory ...
Kate Williams +5 more
doaj +1 more source