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Rett syndrome is a rare childhood neurological disorder. It affects about 1 in 10,000 girls and almost never affects boys.
Rett syndrome interferes with body movements, including eye gaze and speech. Girls with Rett syndrome may develop normally up to 18 months or even older, before symptoms begin. At the point that symptoms begin, development regresses.
What causes it?
Rett syndrome is usually caused by a mutation in the MECP2 gene. This gene helps your body make a protein that is essential for normal brain development.
Most patients with Rett syndrome can live into middle age and even longer. They will, however, likely need constant care.
When a girl has Rett syndrome, she can't make purposeful motions with her hands. She compulsively wrings, washes or claps her hands.
Other symptoms include:
- Microcephaly (small head)
- Problems breathing
- Muscle weakness
- Problems crawling or walking
- Little eye contact
- Problems sleeping
- Loss of speech
There is no cure for Rett syndrome. Treatment will focus on managing symptoms. Medicines can help breathing issues and control seizures. Other treatments include:
- Occupational therapy
- Special equipment such as braces
- Splints for the hands