[Rett syndrome: from pathophysiology to developments in treatment].
IF 0.6 4区 医学Q3 MEDICINE, GENERAL & INTERNALMedicina-buenos AiresPub Date : 2024-09-01
Ana M Cabal-Herrera, Christopher W Beatty
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引用次数: 0
Abstract
Rett Syndrome (RTT) is a neurodevelopment disorder which primarily affects females and is caused by pathogenic variants in the MECP2 gene. The disease has a characteristic developmental regression resulting in impairment of expressive language, hand skills, and ambulation that is accompanied by hand stereotypies. The goal of this article it to provide an overview of the diagnosis, natural history, and treatment.
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