Dystrophinopathy / 中华神经科杂志
Chinese Journal of Neurology
; (12): 498-506, 2019.
Artigo
em Chinês
| WPRIM (Pacífico Ocidental)
| ID: wpr-756026
Biblioteca responsável:
WPRO
ABSTRACT
Dystrophinopathy is a group of inherited diseases caused by the defect of dystrophin protein with X-linked recessive inheritance.The disease is clinically characterized by progressive severe muscles weakness and atrophy of proximal limb muscles and belt muscle,gastrocnemius pseudohypertrophy.The patient lose the ability of daily exercise,and ultimately succumb to restrictive lung disease or cardiac death.According to the clinical manifestations and the defect degree of dystrophin protein,dystrophinopathy is divided intoDuchenne muscular dystrophy (DMD),Becker muscular dystrophy,X-linked dilated cardiomyopathy,and female carrier of DMD.Patients can present with multi-system involvement at different stages of the disease,which require multidisciplinary management to alleviate symptoms,prolong life and improve quality of life.Glucocorticoids can significantly extend the independent activity of children by 2-5 years.Due to the high incidence,poor quality of life in the early stage and high disability and lethality in the late stage,it is important to strengthen the understanding of neurologists about this disease and conduct early diagnosis,full management and genetic counseling.
Texto completo:
Disponível
Base de dados:
WPRIM (Pacífico Ocidental)
Tipo de estudo:
Estudo de rastreamento
Aspecto:
Preferência do paciente
Idioma:
Chinês
Revista:
Chinese Journal of Neurology
Ano de publicação:
2019
Tipo de documento:
Artigo