Características da marcha e mobilidade funcional de indivíduos com Distrofia Muscular de Duchenne em diferentes mutações gênicas
Data
2021-09-10
Autores
Miguel, Cleide Daiana Silva 
Orientadores
Sá, Cristina dos Santos Cardoso de
Tipo
Dissertação de mestrado
Título da Revista
ISSN da Revista
Título de Volume
Resumo
A Distrofia Muscular de Duchenne (DMD) é uma doença grave degenerativa
recessiva ligada ao cromossomo X caracterizada por fraqueza muscular progressiva com
início na primeira infância resultando em declínio progressivo e irreversível de
habilidades funcionais. O gene da DMD é considerado o mais longo nos seres humanos,
com 79 éxons, e devido ao seu comprimento é altamente suscetível a mutações que
resultam na ausência de distrofina. O estudo de estratégias motoras, marcha e mobilidade
funcional complementam a avaliação desses indivíduos e permite interpretações ainda
não descritas previamente, considerando aspectos genéticos e a evolução da doença. O
objetivo principal deste estudo foi caracterizar a marcha e a mobilidade funcional de
indivíduos com DMD nas deleções, duplicações e mutações de ponto no gene da
distrofina. Foi realizado um estudo observacional de caráter longitudinal, com 40
meninos entre 5 e 17 anos no Setor de Investigação de Doenças Neuromusculares da
UNIFESP. Os indivíduos foram avaliados individualmente em três momentos distintos
no período de um ano (avaliação inicial, 6 e 12 meses) com as seguintes escalas/testes:
Mini-Exame do Estado Mental (MEEM), Escala Vignos, Timed Up & Go (TUG),
Caminhada de 10 metros (TC 10m) e Escala de avaliação funcional (FES-DMD-D4). Os
resultados demonstram diferença entre a avaliação inicial e final no TC 10m e no número
de passos, diferente da FES- DMD que mostrou piora progressiva ao longo de 12 meses.
O grupo duplicação apresentou tempos de execução no TUG test e TC 10 m mantidos
entre avaliação inicial e seis meses e o grupo mutação as alterações ocorrem de maneira
gradativa no mesmo período. O estudo concluiu que os perfis de progressão de cada
alteração gênica são distintos e também apresentam características de progressão
diferentes conforme a localização dos éxons, o que possibilita avaliar estratégias
intervenção específica para cada indivíduo com DMD.
Duchenne Muscular Dystrophy (DMD) is a severe recessive degenerative disease linked to the X chromosome characterized by progressive muscle weakness beginning in early childhood with rapid progression resulting in a progressive and irreversible decline in functional abilities. The DMD gene is considered the longest in humans, with 79 exons, and due to its length it is highly susceptible to mutations that result in the absence of dystrophin. The study of motor strategies, gait and functional mobility complement the assessment of these individuals and allow interpretations not yet described previously, considering genetic aspects and the evolution of the disease. The main objective of this study was to characterize the gait and functional mobility of individuals with DMD in deletions, duplications and point mutations in the dystrophin gene. A longitudinal observational study was carried out, with 40 boys between 5 and 17 years old in the Neuromuscular Diseases Research Sector at UNIFESP. Individuals were assessed individually at three different times in the period of one year (initial assessment, 6 and 12 months) with the following scales / tests: Mini-Mental State Examination (MMSE), Vignos Scale, Timed Up & Go (TUG), 10 meter walk (10m TC) and functional evaluation scale (FES-DMD-D4). The results show a difference between the initial and final assessment in the 10m TC and in the number of steps, unlike the FES-DMD which showed progressive worsening over 12 months. The duplication group presented execution times in the TUG test and the 10 m walk test maintained between the initial assessment and six months, and the mutation group presented changes gradually over the same period. The study concluded that the progression profiles of each genetic alteration are distinct and also present different progression characteristics depending on the location of the exons, which makes it possible to evaluate specific intervention for each individual with DMD.
Duchenne Muscular Dystrophy (DMD) is a severe recessive degenerative disease linked to the X chromosome characterized by progressive muscle weakness beginning in early childhood with rapid progression resulting in a progressive and irreversible decline in functional abilities. The DMD gene is considered the longest in humans, with 79 exons, and due to its length it is highly susceptible to mutations that result in the absence of dystrophin. The study of motor strategies, gait and functional mobility complement the assessment of these individuals and allow interpretations not yet described previously, considering genetic aspects and the evolution of the disease. The main objective of this study was to characterize the gait and functional mobility of individuals with DMD in deletions, duplications and point mutations in the dystrophin gene. A longitudinal observational study was carried out, with 40 boys between 5 and 17 years old in the Neuromuscular Diseases Research Sector at UNIFESP. Individuals were assessed individually at three different times in the period of one year (initial assessment, 6 and 12 months) with the following scales / tests: Mini-Mental State Examination (MMSE), Vignos Scale, Timed Up & Go (TUG), 10 meter walk (10m TC) and functional evaluation scale (FES-DMD-D4). The results show a difference between the initial and final assessment in the 10m TC and in the number of steps, unlike the FES-DMD which showed progressive worsening over 12 months. The duplication group presented execution times in the TUG test and the 10 m walk test maintained between the initial assessment and six months, and the mutation group presented changes gradually over the same period. The study concluded that the progression profiles of each genetic alteration are distinct and also present different progression characteristics depending on the location of the exons, which makes it possible to evaluate specific intervention for each individual with DMD.
Descrição
Citação
MIGUEL, Cleide Daiana Silva. Características da marcha e mobilidade funcional de indivíduos com Distrofia Muscular de Duchenne em diferentes mutações gênicas. 2021. 81 f. Dissertação (Mestrado Interdisciplinar em Ciências da Saúde) - Instituto de Saúde e Sociedade, Universidade Federal de São Paulo, Santos, 2021.