Search results
Jun 26, 2023 · Duchenne muscular dystrophy (DMD) is a severe, progressive, and ultimately fatal disease of skeletal muscle wasting, respiratory insufficiency, and cardiomyopathy.
Feb 18, 2021 · Duchenne muscular dystrophy is a severe, progressive, muscle-wasting disease that leads to difficulties with movement and, eventually, to the need for assisted ventilation and premature death.
Research. In Duchenne muscular dystrophy (DMD), muscle is missing a key structural protein called dystrophin, making it more susceptible to injury. Eventually the body cannot keep up with repair and regeneration, which leads to muscle loss (wasting) and weakness.
Jul 10, 2023 · Objectives: Identify the etiology of Duchenne muscular dystrophy. Describe the presentation of a patient with Duchenne muscular dystrophy. Describe the management options available for Duchenne muscular dystrophy, as well as the limitations of current management options.
Jul 22, 2016 · Duchenne muscular dystrophy (DMD) is the most common form of muscular dystrophy in childhood. It is caused by mutations of the DMD gene, leading to progressive muscle weakness, loss of independent ambulation by early teens, and premature death due to cardiorespiratory complications.
Aug 31, 2023 · Duchenne muscular dystrophy (DMD) is a monogenic muscle-wasting disorder and a priority candidate for molecular and cellular therapeutics. Although rare, it is the most common inherited myopathy...
May 30, 2019 · Key points. Duchenne muscular dystrophy (DMD) is a severe, progressive disease caused by lack of dystrophin protein. Secondary consequences of the lack of dystrophin include disturbances in...
Duchenne muscular dystrophy (DMD) is a lethal X-linked recessive neuromuscular disorder caused by mutations in the dystrophin gene that result in absent or insufficient functional dystrophin, a cytoskeletal protein that enables the strength, stability, and functionality of myofibres.
Duchenne muscular dystrophy is an X-linked disease caused by the absence of functional dystrophin in the muscle cells. Major advances have led to the development of gene therapies, tools that induce exon skipping, and other therapeutic approaches, including treatments targeting molecular pathways downstream of the absence of functional dystrophin.
Jun 26, 2023 · The new drug—delandistrogene moxeparvovec-rokl—is being developed by Sarepta Therapeutics and marketed under the name ELEVIDYS. We asked Ciafaloni to describe the drug, why the FDA chose to limit its use, and what this means for patients and their families.
