Recent developments in Duchenne muscular dystrophy: facts and numbers

First symptoms are usually noted between age 3 and 5, while loss of ambulation occurs around age 12, along with scoliosis, contractures, respiratory and cardiac impairment requiring early ventilatory support and heart medication (Table ). Exon skipping aims to moderate disease progression by restoring the open reading frame of dystrophin transcripts resulting in the production of partly functional dystrophin protein by AONs. Since 60% to 65% of all DMD patients carry a deletion of one or more exons, the skipping of certain exons would be beneficial to a relatively large numbers of patients. Gene therapeutic methods such as stop codon read‐through, exon skipping, and gene editing by exon snipping are promising future disease‐modifying or even curative treatments for DMD. [...]corticosteroids, heart medication, non‐invasive and invasive ventilation, physiotherapy, and supportive care represent the gold standard of therapy; still, loss of ambulation, respiratory, and cardiac decompensation cannot be prevented. The best way of ensuring this is to collect relevant data about patients in a single registry containing the information that researchers will need, including each patient's particular genetic defect and other key information about their disease. Since DMD is a rare disorder, clinical trials are likely to recruit from several countries to reach statistical significance.