What Are the Symptoms of Rett Syndrome? (with picture)

Jillian O Keeffe
Jillian O Keeffe

A genetic disease, Rett Syndrome affects mostly girls. Neurological difficulties and a failure to develop normally are symptoms of Rett Syndrome. Coordination of muscles, behavioral abnormalities, and intellectual disabilities are also typical.

Often, females with Rett syndrome also have scoliosis, a curvature of the spine.
Often, females with Rett syndrome also have scoliosis, a curvature of the spine.

Mutation of the MECP2 gene causes the majority of Rett Syndrome cases, although a minority are due to other gene mutations. The altered gene is passed down only in rare occasions from parent to child. Female members of a family may carry an abnormal gene but show no symptoms, although this is not common.

Most cases arise through spontaneous mutation in the individual. The mutated gene produces an abnormal protein that cannot perform its usual function of turning on and off other genes. This results in developmental and other problems.

Babies with Rett Syndrome develop normally up until the ages of 6 to 18 months. At birth, they have a healthy head circumference, and at 3 months onward, the rate of head growth slows down. From about 6 months onward, affected babies show a reduced capability to use their hands, displaying problems in reaching, grasping, or touching things in a deliberate manner.

Kids also show symptoms of Rett Syndrome by becoming less sociable and more anxious. In place of deliberate hand movements, kids use their hands to clap, wring their hands, or do other gestures such as rubbing. Verbal language is affected by the disease, and children with Rett syndrome also become less skilled at walking. All of these symptoms of Rett Syndrome are essential to an accurate diagnosis, as some other diseases cause some of the same symptoms.

Other symptoms may be present in some individual kids. Breathing issues such as hyperventilation and holding in the breath are possible. Scoliosis affects the majority of female patients, and some kids can have unusually small feet and hands.

Problems with the circulatory system are possible, as are seizures. Occasionally, individuals have bad circulation that results in cold hands and feet or abnormally slow growth. Another potential symptom of Rett Syndrome is difficulty sleeping through the night. Issues with chewing or swallowing food can also be symptoms of Rett Syndrome.

These symptoms generally occur from the point where development slows down onward. Most women with the disease live until about age 40. After the initial period of time where the symptoms first occur, health issues typically get better or stay the same for the majority of the life span. No cure exists for Rett Syndrome, but medicines are available to ameliorate most of the symptoms.

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    • Often, females with Rett syndrome also have scoliosis, a curvature of the spine.
      Often, females with Rett syndrome also have scoliosis, a curvature of the spine.