Atuação da Fisioterapia na Síndrome de Marfan : uma revisão integrativa

Abstract

Marfan Syndrome (MS) is an autosomal dominant, genetic and hereditary disease that reaches the connective tissue through the fibrillin 1 (FBN1) gene, which is located on chromosome 15. Due to its wide distribution throughout the body, mutation of this gene can cause attacks in several systems, such as skeletal manifestations, cardiac abnormalities, visual disturbances and others. The present study intent to analyze the role of the physical therapist in the treatment and prevention of injuries in individuals with MS. It was an integrative review of the literature on the general aspects of MS and the therapeutic resources used in the physiotherapeutic care. The database was PubMed, Lilacs, SciELO, Science Direct and Google Scholar. The inclusions criteria were: studies in Portuguese, English and Spanish, complete studies and studies published during the period from June to July 2020. The exclusions criteria were: studies not related to the topic and studies repeated in the databases. After the eligibility criteria, 18 articles remained. The publication of most of the studies was in 2017. The case studies represented the majority of studies, with the purpose of evidencing the effectiveness, applicability and benefits of treatment. Knowledge of the disease and the individual characteristics is very important for the diagnosis, adequate treatment and attendance. Physiotherapeutic treatment begins from the physical therapy evaluation, in order to find musculoskeletal disorders, articular and postural. The correct recommendation of physical exercises for individuals with MS, through physical therapy, has the purpose of promote a series of benefits, how to reduce musculoskeletal pain, increase cardiopulmonary and vascular resistance, protect and give stability to joints, improve posture, improve performance activities of daily living. Therefore, in general, the study realized emphasizes that practice of exercises physical therapists with the appropriate accompaniment by the physiotherapist will contribute for better quality of life and increased life expectations in this population.