Educació en competències: TFG - Farmàcia
Pons Hospital, Santiago
Abstract
Duchenne muscular dystrophy (DMD) is a hereditary recessive X-linked genetic disease. It is caused by mutations in the dystrophin gene, leading to the absence or a deficit of the encoded protein and subsequent muscle weakness, which ends the patient’s life. To date no cure has been found, hence, a wide range of therapies are being investigated including those based on stem cells, and genetic therapies such as gene replacement, exon-skipping and gene editing. Additionally, utrophin modulation and stop codon read-through agents appear to be promising treatments as well. We are still in the early stages of work that will hopefully lead to a cure for DMD. Nevertheless, the results obtained from the different clinical trials prognosticate an encouraging future for DMD patients.
Keywords: Duchenne, teràpia, distròfia i exon-skipping.
Reception date: 22/10/2018
Acceptance date: 02/11/2018