Dystrophinopathy
10.3760/cma.j.issn.1006-7876.2019.06.010
- VernacularTitle:抗肌萎缩蛋白病
- Author:
Jing HU
1
Author Information
1. 河北医科大学第三医院神经肌肉病科
- Keywords:
Dystrophinopathy;
Dystrophin;
Genetic diseases,X-linked;
Duchenne muscular dystrophy;
Becker muscular dystrophy
- From:
Chinese Journal of Neurology
2019;52(6):498-506
- CountryChina
- Language:Chinese
-
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 into:Duchenne 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.
