Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2020 Mar 10;37(3):308-312.
doi: 10.3760/cma.j.issn.1003-9406.2020.03.014.

[Clinical practice guidelines for Rett syndrome]

[Article in Chinese]
Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical Association  1 , Rongwei Guan, Qiuyan Li, Songbin Fu
Affiliations

[Clinical practice guidelines for Rett syndrome]

[Article in Chinese]
Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical Association et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. .

Abstract

Rett syndrome (RTT) is a neurodevelopmental disorder mainly affecting the females. It is closely associated with mutations of methylated CpG binding protein 2 ((MeCP2))] gene on the X chromosome. The incidence of RTT in females is 1/15 000 - 1/10 000. Its clinical features include mental retardation, loss of language function, rigid movement of hands, and abnormal gait. Currently there is no cure for the disease but only symptomatic treatment. The compilation of this guideline has referred to the third edition of Diagnostic Standard of RTT as revised in 2010, and integrated the latest findings of clinical research at home and abroad, in addition with conditions and clinical practice in China, with an aim to provide guidance for the clinical diagnosis, treatment and genetic counseling of patients with RTT.

PubMed Disclaimer

Substances