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肌张力低下是婴幼儿时期较为常见的异常临床表现,其由遗传代谢性疾病所致的发生率高。如染色体疾病,如唐氏综合征;微结构缺失染色体疾病如Prader-Willi综合征;单基因疾病,如脊肌萎缩症;代谢性疾病,如苯丙酮尿症;线粒体疾病,如Leigh综合征等。本文就导致婴幼儿肌张力低下的遗传代谢性相关疾病的临床表现、诊断进展等情况做一综述介绍,为临床诊断提供帮助。
Muscular hypotonia is a more common abnormal clinical manifestation in infants and toddlers, with a high incidence of inherited metabolic diseases. Such as chromosomal disorders such as Down’s syndrome; microstructurally deficient chromosomal disorders such as Prader-Willi Syndrome; monogenic disorders such as spinal muscular atrophy; metabolic disorders such as phenylketonuria; mitochondrial disorders such as Leigh’s syndrome . This article gives an overview of the clinical manifestations, diagnosis and progress of genetic metabolic disorders related to low myotonic tone in infants and young children, and provides help for clinical diagnosis.