雷特氏症介绍

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