Research progress of nervous system damage in Pompe disease.
10.7499/j.issn.1008-8830.2211052
- Author:
Wen-Chao ZHANG
1
;
Ying-Ying MAO
1
;
Qian CHEN
1
Author Information
1. Department of Neurology, Children's Hospital, Capital Institute of Pediatrics, Beijing 100020, China.
- Publication Type:Journal Article
- Keywords:
Clinical manifestation;
GAA gene;
Glycogen storage disease type Ⅱ;
Nervous system;
Pompe disease
- MeSH:
Humans;
Glycogen Storage Disease Type II/drug therapy*;
alpha-Glucosidases;
Quality of Life;
Enzyme Replacement Therapy
- From:
Chinese Journal of Contemporary Pediatrics
2023;25(4):420-424
- CountryChina
- Language:Chinese
-
Abstract:
Pompe disease, also known as glycogen storage disease type Ⅱ, is a rare autosomal recessive disease. With the application of enzyme replacement therapy, more and more patients with Pompe disease can survive to adulthood, and nervous system-related clinical manifestations gradually emerge. Nervous system involvement seriously affects the quality of life of patients with Pompe disease, and a systematic understanding of the clinical manifestations, imaging features and pathological changes of nervous system injury in Pompe disease is of great significance for the early identification and intervention of Pompe disease. This article reviews the research progress of neurological damage in Pompe disease.
