1. TSC是一种遗传病，可导致重要器官发生肿瘤
TSC is genetic disorder that causes tumors to form in vital organs.

2. 据估计，TSC在新生婴儿的发病率是6000分之一。

It is estimated that TSC affects 1 in 6,000 births.

3. 在美国，TSC患者超过50000，全世界有100万名TSC患者。

More than 50,000 people in the USA have TSC; 1 million worldwide.

4. TSC是引起癫痫和自闭症的重要遗传因素之一。

TSC is the leading genetic cause of epilepsy and autism.

5. TSC和肌萎缩侧索硬化症（ALS）一样常见。

TSC is as common as Lou Gehrig’s disease (ALS).

6. TSC患者出现自闭症（ASD）或注意缺陷多动障碍（ADHD）的几率没有性别差异；而非TSC人群中，ASD或ADHD患者以男性居多。

In TSC, there is no difference in the rates of autism spectrum disorder (ASD) or attention deficit hyperactivity disorder (ADHD) between males and females, as compared to the non-TSC population where there is a male predominance.  

7. TSC尚无法治愈。

There is no cure for TSC[i1] .

8. 对于TSC的研究，有助于更好地了解其他疾病，如癌症，自闭症和癫痫。

Research into TSC may lead to better understanding of other diseases, like cancer, autism and epilepsy.

9. 多达90％的TSC患者有癫痫发作。

Seizures occur in up to 90 percent of people with TSC.

10. TSC患者表现不尽相同，，有的患者症状很轻微，而另一些患者病情严重。

TSC affects everyone differently; some have very mild symptoms while others are severely impacted.

11. TSC发病率在不同性别、不同种族之间没有差异。。

TSC shows no gender bias and occurs in all races and ethnic groups.

12. 约45至60％TSC患者有智能障碍，包括多动，发育迟缓，自闭症或攻击倾向。

About 45 to 60 percent of people with TSC have intellectual disabilities including hyperactivity, developmental delay, autism or aggression.

13. TSC的两个致病基因TSC1和TSC2是在美国结节硬化症联盟的资助下发现的。

TS Alliance-funded research led to the identification of two genes that cause TSC; these genes are called TSC1 and TSC2.

14.在临床确诊TSC患者中，目前的分子检测技术可发现多达85%的患者有TSC1或TSC2基因突变。

Current molecular testing for TSC identifies a TSC1 or TSC2 mutation in up to 85% of individuals with a definite diagnosis of TSC by clinical criteria.

15. 在我们的地球上，每隔20分钟就有一个TSC患者降生。

Somewhere in the world, a child is born with TSC every 20 minutes.

16. 伍德灯可以提高发生在TSC患者身上的色素减退症（即白斑）的检出率。

The ultraviolet light of a Wood’s lamp improves detection of the hypomelanotic macules (white spots) observed in nearly all individuals with TSC.

17. 面部血管纤维瘤会影响多达90％的TSC患者，一般在5岁以后出现。

Facial angiofibromas generally appear by age 5 years and affect up to 90% of individuals with TSC.

18.如果位于16号染色体的TSC2基因（16p13）与其相邻的PKD1基因发生大片段突变（缺失），患者可能在儿童时期就出现严重的多囊肾。

Very large mutations involving the TSC2 gene and adjacent PKD1 gene on chromosome 16p13 typically result in severe polycystic kidney disease during childhood.

19. 淋巴管平滑肌瘤病（LAM）是TSC患者肺部的主要表现，约40%的TSC女性患者可能在青春期后出现LAM，而男性TSC患者几乎不会合并LAM。

Lymphangioleiomyomatosis (LAM) is the primary pulmonary feature of TSC occurring almost exclusively in females in up to 40% of those with TSC after puberty.

20. 如果孩子被诊断TSC，有1/3几率其父母之一也是TSC患者；其余2/3则是孩子自发基因突变，而不是由父母遗传而来（其中原因至今不明）。

About 1/3 of the time, when a child is diagnosed with TSC, one of the parents also has TSC. The remaining 2/3 of diagnoses occur due to spontaneous mutation (we don’t know why).

21. 如果父母之一是TSC患者，他们的孩子有50％的几率罹患TSC。

If a parent is affected, his or her children have a 50% chance of inheriting the TSC gene.  

22. 如果其父母均没有TSC，TSC患者的兄弟姐妹罹患TSC的几率为1-2%。

If parents are unaffected, the chance of a sibling of someone diagnosed with TSC also having TSC is 1-2%.

23. 胚胎植入前遗传学诊断（PGD）技术可以对通过体外受精（IVF）获得的胚胎进行TSC基因突变的检测。

Pre-implantation genetic diagnosis (PGD) is a technique that can detect the TSC mutation in embryos created through in vitro fertilization (IVF).

24.一种源自复活节岛土壤中细菌产生的一种天然物质，已经为TSC患者的治疗带来了多个利好消息。

A naturally occurring substance derived from bacteria in the soil of Easter Island has led to development of promising treatments for some aspects of TSC.

25. 通过孕期常规超声检测发现胎儿心脏横纹肌瘤，使得许多TSC患儿出生不久就被确诊。

Many infants with TSC are now diagnosed soon after birth thanks to prenatal identification of heart rhabdomyomas during routine ultrasound testing.

[u2] 
26.  约90％的TSC患者会有牙齿小凹陷。

Dental pits occur in about 90% of people with TSC.

27.  98％TSC的患者会出现一个或多个皮肤症状。

98% of those diagnosed with TSC will experience one or more skin manifestations

28.  80％TSC的患者会出现肾脏问题。

80% of those diagnosed with TSC will experience kidney problems due to TSC.

29. 极少数的患者也会在胰腺、骨、肝等器官出现TSC相关的肿瘤或平滑肌瘤。

Infrequently, TSC can also lead to the formation of fibroids or tumors in the pancreas, bone, and liver.

30. 应密切监测婴儿期诊断的TSC患儿以备早期治疗。

Children identified with TSC as babies should be closely monitored for the need of early interventional services.

31. 患儿的医护人员和学校之间关于TSC的沟通，可改善孩子的预后。

Communication between a child’s medical professionals and his/her school about TSC will improve outcomes for the child.