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Rett Syndrome : Burden of Disease Study
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Rett syndrome is a brain disorder that occurs almost exclusively in girls and it is a rare genetic neurological and developmental disorder that affects the way the brain develops, causing a progressive inability to use muscles for eye and body movements and speech. . The most common form of the condition is known as classic Rett syndrome. After birth, girls with classic Rett syndrome have 6 to 18 months of apparently normal development before developing severe problems with language and communication, learning, coordination, and other brain functions. Early in childhood, affected girls lose purposeful use of their hands and begin making repeated hand wringing, washing, or clapping motions. They tend to grow more slowly than other children and have a small head size (microcephaly). Other signs and symptoms that can develop include breathing abnormalities, seizures, an abnormal side-to-side curvature of the spine (scoliosis), and sleep disturbances.

Researchers have described several variant or atypical forms of Rett syndrome, which can be milder or more severe than the classic form. Although there's no cure for Rett syndrome, potential treatments are being studied. Current treatment focuses on improving movement and communication and providing care and support for children and adults with Rett syndrome and their families.

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