Duchenne muscular dystrophy: case report

Abstract

Duchenne Muscular Dystrophy (DMD) or Progressive Muscular Dystrophy is an inherited pathology with an X-linked recessive pattern caused by a mutation of the gene encoding the protein called dystrophin. This genetic alteration, leads to a proximal muscular atrophy, causing a progressive difficulty for ambulation, deformation of the spine, mental retardation in some cases and death around the age of twenty years due to cardiopulmonary failure. A bibliographical review of this pathology and therefore the study of this particular case, with the aim of notifying and contributing in the registry of the prevalence of this disease in Ecuador. The case of a seven-year-old Indian, from the rural parish of Huambaló, , belonging to the canton of Pelileo (province of Tungurahua), is is reported.He visits the Pelileo Basic Hospital because of difficulty in walking. It is assessed clinically and with a diagnostic approach towards neuromuscular disease, a series of complementary imaging, hemato-metric and histopathological studies are carried out. The algorithm of this study helps the presump-tive and definitive diagnosis of Duchenne Muscular Dystrophy. However, as it is a genetic disease, the chromosomal analysis has great relevance and it is corroborated its classic phenotypic character-istics according to the literature and medical evidence. However, it is necessary to improve the quality of life of these patients through the care of a multidisciplinary health team and government support.