Rett Syndrome

Abstract

There is no specific treatment that can reverse or stop the course of the disease. The rapeutic management revolves around the restoration of synaptic function and maturation, since it has been shown that the deficitis at the level of micro circuits that involve synaptic transmission. The management is symptomatic and individualized. A multidisciplinary and dynamic approach is essential. The knowledge of the genetic causes allows a diagnostic confirmation, a family genetic counseling, an evolutionary prognosis and the application of a therapy to the disease in the very near future [7,8] (Figure 1). Abstract Rett sindrome is a severe neuro developmental disorder that is a leading cause of mental retardation in females, characterized by an apparently normal psycho motor development through the first 6 months of life, followed by stagnation and growth regression in different are as like motor, language and social skills; patients often exhibitautistic behaviors in the early stages. Other symptoms include seizures, breathing problems when awake such as hyper ventilation, apnea, and swallowing air; ataxia and stereotypich and movements. It is caused by mutations in the X-linked gene encodingmethyl-CpG-binding protein 2 (MECP2) [1,2]. One case is presented with positive molecular study.