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Rett Syndrome | Open Access Journals
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Journal of Brain Research

ISSN: 2684-4583

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Rett Syndrome

A Genetic Disorder which is mainly observed in the females effecting the development of brain. Rett syndrome (RTT) is a brain disorder which is genetically caused, that clearly becomes apparent after 6 to 18 months of age in girls. Infants seem healthy during their first six months, but over time, rapidly lose coordination, speech and use of the hands. Symptoms may then stabilize for years. Affect may up-to different degrees. Problems with the language, coordination, and repetitive movements are the few Symptoms. Often there is slower growth, problems walking, and a smaller head size. Further complications can include seizures, scoliosis, and sleeping problems. This disorder is mainly due to a genetic mutation of the MECP2 gene, which tend to occur on X chromosome and gradually develops a new mutation. This syndrome is an extremely rare condition and less seen in Boys, but in some cases boys having similar mutation will die shortly after birth. Diagnosis for this syndrome is based on symptoms and can be typically confirmed with genetic testing. There is no known cure for Rett syndrome, Treatment is directed at improving symptoms, whereas Special education, physiotherapy, and braces, nutritional support May also helpful in managing symptoms, prevent complications and improve quality of life. Rett syndrome is rarely inherited disorder and also called as cerebroatrophic hyperammonemia. 

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