Learn About Rett Syndrome

Rett Syndrome is a rare genetic neurological disorder that primarily affects girls, occurring in approximately 1 in 10,000 female births worldwide. It impacts nearly every aspect of a child's life, including their ability to speak, walk, eat, and breathe easily.

Most cases are caused by random mutations in the MECP2 gene on the X chromosome and are usually not inherited. Children with Rett Syndrome typically develop normally for the first 6–18 months of life, then begin to lose skills they had previously acquired.

Despite these challenges, children with Rett Syndrome are often very social and engaged. While there is currently no cure, research is advancing rapidly. Today's treatment focuses on managing symptoms and maximizing quality of life.

Symptoms of Rett Syndrome

Imagine the symptoms of autism, cerebral palsy, Parkinson's disease, epilepsy, and anxiety disorder… all in one little child.

Every individual with Rett Syndrome is unique and so are their symptoms. Symptoms most often begin with a period of regression between 6 and 18 months of age, with various symptoms then progressing over time, including:

• Loss of purposeful hand skills and development of repetitive hand movements
• Loss of spoken language
• Loss of motor skills and coordination
• Breathing irregularities
• Seizures (in many cases)
• Scoliosis
• Sleep disturbances

Frequently Asked Questions