Abordaje del fisioterapeuta en el tratamiento de la distrofia muscular de Duchenne en la infancia (monografía de compilación).

Abstract

Duchenne muscular dystrophy is a disorder caused by a mutation that is responsible for the absence of muscle protein (dystrophin), affecting approximately 1 in 3500 live births. It is a recessive hereditary neuromuscular disease that is linked to the X chromosome, it is usually characterized by progressive weakness as a result of muscle degeneration, beginning in the lower limbs, the pelvis and later covering the entire body. (Burgos, 2014). The natural history of the disease consists of a preclinical phase, during which a slight delay in motor functions can be seen; a state phase, in which muscle deficit, hypertrophy in the twins and a positive Gowers sign are evident; a final phase, in which the muscular atrophy is generalized and the affectation of the respiratory muscles usually leads to death in the second decade of life (Gamiz, 2020). At present, Duchenne muscular dystrophy does not have a curative treatment; However, there are palliative treatments due to the importance of approaching it from a preventive point of view, through the sequencing of the dystrophin gene, both in asymptomatic carrier mothers and in children. Once the manifestations of the disease begin, there are various treatment options such as pharmacology, surgery and especially physiotherapy, whose role is essential in exacerbating the signs and symptoms, such as the decrease in joint ranges, the loss of muscle strength, the development of scoliosis, the appearance of contractures and muscle retractions (Rodriguez, 2019). Physiotherapeutic treatment in Duchenne muscular dystrophy depends on the symptoms presented by the child, based on a set of protocolized measures whose objective is to improve the functionality and quality of life of patients, delay and treat complications and prolong survival. In this way, it is vitally important to establish clear guidelines that allow both early detection of the disease and its adequate monitoring. With the need to identify the importance of the physiotherapist in the treatment of Duchenne muscular dystrophy in infants, an exhaustive search was carried out in the different databases such as pubmed, PEDro, Scielo, Elsevier, Cochrane, Science direct, scopus; using the following keywords: Duchenne muscular dystrophy, physical therapy, childhood; The inclusion criteria to take into account are: articles under 5 years of publication, articles that include information on Duchenne muscular dystrophy. Articles in scientific journals, Spanish and English language articles; The exclusion criteria to be taken into account were articles older than 5 years of publication, articles that do not contain information on Duchenne muscular dystrophy, documents with an opinion structure, theses, incomplete texts and monographs.