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Rett Syndrome
Definition
A progressive neurologic disorder caused by mutations in the MECP2 gene on chromosome X. It almost exclusively affects girls. It is characterized by language and learning difficulties, poor communication skills, and repetitive hand motions. Other signs and symptoms include microcephaly, scoliosis, breathing abnormalities, and sleep disturbances. (NCI Thesaurus)
More information
Rett syndrome is a rare genetic disease that causes developmental and nervous system problems, mostly in girls. It's related to autism. Babies with Rett syndrome seem to grow and develop normally at first. Between 3 months and 3 years of age, though, they stop developing and even lose some skills. Symptoms include
• Loss of speech
• Loss of hand movements such as grasping
• Compulsive movements such as hand wringing
• Balance problems
• Breathing problems
• Behavior problems
• Learning problems or intellectual disability
Rett syndrome has no cure. You can treat some of the symptoms with medicines, surgery, and physical and speech therapy. Most people with Rett syndrome live into middle age and beyond. They will usually need care throughout their lives. (NIH: National Institute of Child Health and Human Development)
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