Muscular Dystrophy of Duchenne is the most common cause of Muscular Dystrophy in children and has a high rate of morbidity and mortality. The early diagnosis process is essential to establish a timely and adequate management and follow-up in patients; this diagnosis is established with the molecular study where the causative mutation in the DMD gene is demonstrated. Currently there is no curative therapy available for Muscular Dystrophy of Duchenne; The management of these patients is usually aimed at physical therapy, the use of orthopedic supports, the treatment of complications and the administration of glucocorticoids. Recent scientific advances have allowed the development of new treatments aimed at improving the function of the protein Dystrophin and in this way modify the natural history of the disease; these treatments are based on the use of antisense oligonucleotides to make exonal leap and on the use of a molecule known as atalurén that allows evading the stop codon signal prematurely. The objective of these therapies is then to modify the dystrophin protein and in this way reduce the severity of the clinical picture allowing to improve the quality of life of the patients. The application of these new treatments depends on the type of mutation presented by each patient, therefore molecular diagnosis is indispensable. 70 patients with clinical suspicion of Muscular Dystrophy of Duchenne referred by the different medical specialists of the country will be studied.
Paola Andrea Ayala Ramírez Unit: Institute of Human Genetics Faculty: Medicine
Reggie García Robles: Professor Department of Physiological Sciences U Javeriana
Fernando Suarez: Professor Institute of Human Genetics U Javeriana
Instituto de Genética Humana - Carrera 7 # 40-62 Edificio 32 Bogotá, D.C Colombia. Teléfono (57 - 1) 3208320 Ext: 2794