Rett Syndrome

Rodriguez Rivera Sofia Lucila
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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.
右综合征
目前还没有能够逆转或停止疾病进程的特效治疗方法。治疗管理围绕着突触功能和成熟的恢复,因为已经表明,这种定义是在涉及突触传递的微电路水平上。管理是有症状的和个性化的。多学科和动态的方法是必不可少的。对遗传原因的了解可以在不久的将来进行诊断确认、家族遗传咨询、进化预后和疾病治疗[7,8](图1)。摘要雷特综合征是一种严重的神经发育障碍,是女性智力迟钝的主要原因,其特征是在生命的前6个月,心理运动发育明显正常,随后在运动、语言和社交技能等方面出现停滞和生长倒退;患者在早期经常表现出自闭症行为。其他症状包括癫痫发作、清醒时的呼吸问题,如过度通气、呼吸暂停和吞咽空气;共济失调、刻板印象和运动。它是由编码甲基CpG结合蛋白2(MECP2)的X连锁基因突变引起的[1,2]。介绍了一例阳性分子研究。
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