Síndrome de Rett

Abstract

Rett syndrome is an X-linked dominant severe neuro-developmental disorder that is usually due to mutations in the MECP2 gene. The main clinical manifestations include deceleration of head growth, loss of motor skills and communication and hand stereotypies. There is a wide variability in the rate of progression and severity of the disease and besides the typical form there are a number of recognized atypical forms. Mutations in new genes are being described in patients with clinical phenotypes that overlap with RTT. Despite the absence of a curative treatment, it is important to focus on the possible complications, symptomatic treatments and adapted individualised therapies to improve the quality of live of the patients with Rett syndrome.