雷特氏症是一類罕見的神經系統發育障礙，絕大部分患者由散發性MECP2基因突變引起,幾乎只侵害女性，具備嚴重物理致殘傷害力，並累及智力嚴重遲滯。尚無完全治癒的醫學方案，可進行對症治療和持續康復訓練維持和發展身體機能。

Rett Syndrome, a rare genetic postnatal neurological disorder with the most physically disabling symptoms, is mostly caused by a spontaneous genetic mutations in the gene.

MECP2 and almost exclusively affects girls.

1 IN 10,000 Girls Born

萬分之一的獲病概率

100% None Self-Care 不能生活自理

99% NO Hand Skills 手功能喪失

99% Will Never Speak 不能講話

64% Scoliosis 脊柱側彎

75% Seizures 腦癇

50% Will Never Walk 將永不能行走

All these happen from her 1st birthday or so…

所有這些從她一歲左右就開始了…

Stage I: Early Onset Stagnation

0.5y 階段1: 初發停滯期 2y

★頭圍增長減緩 ★對於外界環境興趣不大★肌張減退

★Deceleration of head growth ★ Disinterest in surroundings ★Hypertonia

Stage 2: Rapid Development regression

1y 階段2: 發育快速倒退期 3y

★磨牙★容易發怒★有意識的手部運動喪失★手部刻板動作（絞手，洗手，吃手）

★語言表達喪失★醒時過度喚氣, 睡覺呼吸暫停

★自閉類似症狀

★ Bruxism ★ Irritability ★ Loss of purposeful hand movements ★ Stereotypic hand movements

★ Loss of expressive language ★ Hyperventilation when awake, followed by sleep apnea

★ Autism like symptoms:

Stage 3: Pseudostationary peroid

3y 階段3: 偽穩態期 >10y

★溝通能力有所恢復★喜歡同人身體接觸

★共濟失調加劇，反射亢進且僵化★軀幹共濟失調

★脊柱側彎★腦癇

★ Some restitution of communication ★Happy disposition; enjoy close physical contact

★ Increasing ataxia, hyperreflexia, and rigidity ★ Truncal ataxia

★ Scoliosis★ Seizures

Stage 4: Late motor deterioration

6y 階段4: 晚期運動機能惡化 >40y

★依靠輪椅★肌肉逐漸失用，強直，併發脊柱側彎

★便秘★ 腦癇減少

★ Complete wheelchair dependence★ Progressive muscle wasting, spasticity, and scoliosis

★ Constipation★ Fewer Seizures