Introduction
Rett syndrome is a neurodevelopmental disorder of the grey matter of the brain[1]
that affects almost exclusively females. The clinical features include
small hands and feet and a deceleration of the rate of head growth
(including microcephaly
in some). Repetitive hand movements, such as wringing and/or repeatedly
putting hands into the mouth, are also noted. People with Rett syndrome
are prone to gastrointestinal disorders and up to 80% have seizures.[2] They typically have no verbal skills, and about 50% of individuals affected are not ambulatory. Scoliosis, growth failure, and constipation are very common and can be problematic. 蕾特氏症目前皆在可愛的小女孩時期發病，這些可愛的女孩在發病前，通常都是正常小孩，曾帶給家人許多快樂，不幸一旦患病，不論中外，不論種族，其症狀都極類似。至於為何男孩極少有病例報告，仍有許多醫學探討之處。
Cause
Genetically Rett syndrome (symbolized RTT) is caused by mutations in the gene MECP2
located on the X chromosome and can arise (1) sporadically or (2) from
germline mutations. In less than ten per cent of Rett Syndrome cases,
mutations in the genes CDKL5 or FOXG1
have also been found to cause Rett Syndrome. Rett Syndrome is still
diagnosed by a clinical observation, and in some very rare cases, no
known mutated genes can be found. Genetic blood tests can reveal mutated
suspect genes if they exist for confirmation of the observed diagnosis.
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