Percepção das mães de crianças com duchenne sobre o percurso do diagnóstico ao tratamento dos seus filhos

Duchenne Muscular Dystrophy (DMD) is considered to be the most common muscular dystrophy. It is caused by changes in the DMD gene that is responsible for the production of the protein dystrophin. It predominantly affects the male sex, with an incidence of one in three thousand five hundred (1: 3,500) live births, the female sex is usually asymptomatic carrier. The first symptoms of DMD are characterized by balance deficits, frequent falls and difficulty lifting and jumping due to weakness in the muscles that initially affect the lower limbs. To know the perception of mothers of children with Duchenne about the path from diagnosis to treatment of their children. This is a qualitative research. The study was carried out with six mothers of the Duchenne Brazil Mothers Association who live in the State of Maranhão. For the data collection, two instruments were used by the researcher, being the characterization form of the mothers and a semi-structured interview script. Mothers reported the difficulty of definitive diagnosis, among the alleged factors, the lack of recognition of the disease by the doctors, as well as the delay to perform specific tests predominate. The results of this research indicate that the mothers face difficulties in the trajectory traversed in search of the diagnosis of the child, they pass through several professionals and the diagnostic confirmation occurs late. It is necessary to develop actions aimed at the knowledge of the general population about Duchenne muscular dystrophy.