Life-Threatening Bowel Complications in Adults with Duchenne Muscular Dystrophy: A Case Series
Duchenne Muscular Dystrophy (DMD) is a progressive muscle wasting disease caused by frame-shift variants in the DMD gene leading to a lack of dystrophin in skeletal, smooth and cardiac muscle. Dystrophin deficiency in the brain can also result in neurocognitive involvement [1]. Without treatment, patients would historically die in their late teens or early adulthood. However, the introduction of a combination of corticosteroid treatment, non-invasive ventilation and formalised standards of care have led to greater overall life expectancy [2].
Source: Neuromuscular Disorders - Category: Neurology Authors: Luca Nart, Mahalekshmi Desikan, Anton Emmanuel, Ros Quinlivan Source Type: research
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