Alterações musculoesqueléticas em indivíduos com Síndrome de Down: uma revisão integrativa da literatura

Abstract

This study comprised an integrative literature review on musculoskeletal alterations in individuals with Down syndrome, conducted through searches in recognized scientific databases. Down syndrome is characterized by an extra copy of chromosome 21, an alteration that occurs due to an error in cell division during embryonic development, resulting in trisomy 21 in about 95% of cases. The findings reveal that the main clinical manifestations (delayed cognitive development, muscle hypotonia, congenital heart defects, and immunological and endocrine dysfunctions) arise from gene overexpression located in the 21q22 region. The review also addresses bone alterations, muscle strength, joint instability, and deformities correlated with the genetic abnormalities of chromosome 21 trisomy. It is concluded that musculoskeletal alterations in Down syndrome are multifactorial, requiring early evaluation and a multidisciplinary approach that integrates genetic, clinical, and functional aspects to optimize the quality of life of these individuals.