Rett Syndrome

A rare genetic mutation affecting brain development in girls.
Despite being caused by a gene mutation, Rett syndrome is rarely inherited.
Infants seem healthy during their first six months, but over time, rapidly lose coordination, speech, and use of the hands. Symptoms may then stabilize for years.
There’s no cure, but medications, physical and speech therapy, and nutritional support help manage symptoms, prevent complications, and improve quality of life.


Cluster Number:
Wiki Number: PW189
Diagnosis: Rett Syndrome
US Patients:
World Patients: 1 in 8500 girls.
Sex Ratio: G only; B’s don’t survive birth or, at best, two years. No known cure. Girls may live until age 40.
Age Onset: 6-12 months; ages 1-4 loses hand and language skills; motor problems and seizures; spine curves, muscle weakness, walking gone?
Brain Area: MECP2 gene on the X-chromosome; mostly new genetic mutations, not inherited; less norepinephrine; poorer locus coeruleus cells
Symptoms: girls with smaller heads, slower growth, difficulty walkng; repetitious moves, may have seizures, scholiosis and sleeping problems
Causes: genetic; gene therapy through animal studies is underway.
Medications: anticonvulsants for seizures
Therapies: Braces, physiotherapy and special education.


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