Rett Syndrome Genetic Disorder Project

This disorder only affects girls. Other names for Rett Syndrome are (RTT) or RTS. Rett Syndrome is a neurodevelopmenal disorder that affects girls almost exclusively. It is characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability.exclusively. The course of Rett syndrome, including the age of onset and the severity of symptoms, varies from child to child. Before the symptoms begin, however, the child generally appears to grow and develop normally, although there are often subtle abnormalities even in early infancy, such as loss of muscle tone (hypotonia), difficulty feeding, and jerkiness in limb movements. Then, gradually, mental and physical symptoms appear. As the syndrome progresses, the child loses purposeful use of her hands and the ability to speak. Other early symptoms may include problems crawling or walking and diminished eye contact. The loss of functional use of the hands is followed by compulsive hand movements such as wringing and washing. The onset of this period of regression is sometimes sudden.

Children with Rett syndrome often exhibit autistic-like behaviors in the early stages. Other symptoms may include walking on the toes, sleep problems, a wide-based gait, teeth grinding and difficulty chewing, slowed growth, seizures, cognitive disabilities, and breathing difficulties while awake such as hyperventilation, apnea (breath holding), and air swallowing. What determines my baby's sex? Your baby's sex is determined by sex chromosome. There are two sex chromosomes: X and Y. Egg cells only contains X chromosomes.

Rett Syndrome cases to defect in a gene called methl-CpG binding protien 2. This gene is on the X chromsome. Female have two X chromosomes.

In 1954, Dr. Andreas Rett, a pediatrician in Vienna, Austria, first noticed two girls as they sat in his waiting room making the same repetitive hand-washing motions.

Current estimates suggests that Rett Syndrome occurs in one out of every 10,000 to 15,000 girls born and affects 1 to 10,000 to 22,000 females in the U.S.

I chose this disease because it seems interesting to learn about. I don't anyone with this disease.

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