Rett syndrome is a rare neurological disease that strikes one out of 10,000 girls (it rarely occurs in boys). There is currently no treatment for this disease.
Early symptoms of Rett syndrome usually appear between the ages of six and eighteen months. After developing normally for a few months, affected girls begin to develop more slowly or stop developing for no apparent reason. They then regress and lose the skills they had developed, most notably in terms of language and hand movements. Distinctive signs of the disease then begin to appear, including repetitive hand movements, unstable walk, and a slowed rate of head growth. Other symptoms such as convulsions and difficulty breathing may also occur.
The disease involves a defective gene on the X chromosome, which can be identified through a blood test. Rett syndrome is usually diagnosed when a patient presents with typical signs and symptoms of the disease, in addition to a positive blood test for the defective gene.
Rett syndrome evolves differently from one person to another, so that two little girls with the disease may have very different symptoms at the same age. In early stages, the disease is often mistaken for cerebral palsy or autism.
There is currently no cure for Rett syndrome, but two potential treatments are currently under study, so there is hope!