Rett syndrome
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Rett syndrome is a rare genetic neurological and developmental disorder that affects the way the brain develops, causing a progressive loss of motor skills and speech. This disorder primarily affects girls.
Most babies with Rett syndrome seem to develop normally for the first 6 to 18 months of age, and then lose skills they previously had — such as the ability to crawl, walk, communicate or use their hands.
Over time, children with Rett syndrome have increasing problems with the use of muscles that control movement, coordination and communication. Rett syndrome can also cause seizures and intellectual disability. Abnormal hand movements, such as repetitive rubbing or clapping, replace purposeful hand use.
Although there’s no cure for Rett syndrome, potential treatments are being studied. Current treatment focuses on improving movement and communication, treating seizures, and providing care and support for children and adults with Rett syndrome and their families.
Babies with Rett syndrome typically are born after a normal pregnancy and delivery. Most infants with Rett syndrome seem to grow and behave normally for the first six months. After that, signs and symptoms start to appear.
The most pronounced changes generally occur at 12 to 18 months of age, over a period of weeks or months. Symptoms and their severity can vary greatly from child to child.
Rett syndrome signs and symptoms include:
Rett syndrome is commonly divided into four stages:
Signs and symptoms of Rett syndrome can be subtle in the early stages. See your child’s doctor right away if you begin to notice physical problems or changes in behavior after apparently normal development, such as:
Rett syndrome is a rare genetic disorder. Classic Rett syndrome, as well as several variants with milder or more-severe symptoms, can occur based on the specific genetic mutation.
The genetic mutation that causes the disease occurs randomly, usually in the MECP2 gene. Only in a few cases is this genetic disorder inherited. The mutation appears to result in problems with the protein production critical for brain development. However, the exact cause is not fully understood and is still being studied.
Because males have a different chromosome combination from females, boys who have the genetic mutation that causes Rett syndrome are affected in devastating ways. Most of them die before birth or in early infancy.
A very small number of boys have a different mutation that results in a less destructive form of Rett syndrome. Similar to girls with Rett syndrome, these boys will likely live to adulthood, but they’re still at risk of a number of intellectual and developmental problems.
Rett syndrome is rare. The genetic mutations known to cause the disease are random, and no risk factors have been identified. In a few cases, inherited factors — for instance, having close family members with Rett syndrome — may play a role.
Complications of Rett syndrome include:
There’s no known way to prevent Rett syndrome. In most cases, the genetic mutation that causes the disorder occurs spontaneously. Even so, if you have a child or other family member with Rett syndrome, you may want to ask the doctor about genetic testing.
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Rett syndrome
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