Updates on pathogenesis-related genes and diagnosis and treatment of Rett syndrome / 国际儿科学杂志
International Journal of Pediatrics
;
(6): 764-767, 2018.
Article
in Chinese
| WPRIM
| ID: wpr-692587
ABSTRACT
Rett syndrome ( RTT) is a devastating neurological disorder that is caused largely by muta-tions in the X-linked gene MECP2,other two genes associated with RTT are CDKL5 and FOXG1. RTT is one of the most common causes of mental retardation in girls,male cases are rare. Classical features of typical RTT in-clude losing acquired spoken language and hand skills,hand stereotypies,epilepsy and respiratory disorders. The diagnosis of RTT mainly depends on the clinical characteristics. Atpresent, it still lacks atargeted treatment. In this review,we summarize both the gene research,diagnosis and treatmentprogresses of RTT so as to improve the understanding of RTT.
Full text:
Available
Index:
WPRIM (Western Pacific)
Type of study:
Diagnostic study
/
Etiology study
Language:
Chinese
Journal:
International Journal of Pediatrics
Year:
2018
Type:
Article
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