概述

泰萨二氏病是一种由父母遗传给子女的罕见遗传病。该疾病由缺乏帮助分解体内脂肪物质的酶所引起。这些被称为神经节苷脂的脂肪物质在儿童脑内积聚至毒性水平,进而影响神经细胞的功能。随着病情的进展,儿童会丧失肌肉控制能力。最终会导致失明、瘫痪和死亡。

如果您有泰萨二氏病家族史,或者您属于高风险人群,而您计划要孩子,那么医生强烈建议您进行基因检测和基因咨询。

症状

在最常见的情况下,婴儿通常会在约 6 个月大时开始显现症状。泰萨二氏病的体征和症状可能包括:

  • 丧失一些运动技能,包括翻身、爬行和坐起来
  • 婴儿听到噪音时会出现夸张的反应
  • 癫痫发作
  • 视力和听力减退
  • 眼睛里有“樱桃红色”的斑点
  • 肌无力
  • 运动问题

何时就诊

如果您的孩子有上面列出的任何体征或症状,请与您孩子的医生约诊。

Infantile form

In the most common and severe form, called infantile form, an infant typically begins showing signs and symptoms by about 3 to 6 months of age. Survival is usually only a few years. Signs and symptoms can include:

  • Exaggerated startle response when the baby hears loud noises
  • "Cherry-red" spots in the eyes
  • Loss of motor skills, including turning over, crawling and sitting up
  • Muscle weakness, progressing to paralysis
  • Movement problems
  • Seizures
  • Vision loss and blindness
  • Hearing loss and deafness
  • Problems swallowing
  • Loss of mental functions and a lack of response to surroundings
  • Growth in head size (progressive macrocephaly)

Juvenile form

The juvenile form of Tay-Sachs disease is less common. Signs and symptoms vary in severity and begin in childhood. Survival is typically into the teen years. Signs and symptoms can include:

  • Behavior problems
  • Gradual loss of skills and movement control
  • Frequent respiratory infections
  • Slow loss of vision and speech
  • Decline in mental function and responsiveness
  • Seizures

Last onset/adult form

This is a rare and less severe form with signs and symptoms beginning in late childhood to adulthood. Severity of symptoms varies greatly, and this form does not always impact life expectancy. Signs and symptoms progress slowly and can include:

  • Muscle weakness
  • Clumsiness and loss of coordination
  • Tremors and muscle spasms
  • Loss of the ability to walk
  • Problems speaking and swallowing
  • Psychiatric disorders
  • Sometimes loss of mental function

When to see a doctor

If you or your child has any of the signs or symptoms that may indicate Tay-Sachs disease, or if you have concerns about your child's development, schedule an appointment with your health care provider.

病因

泰萨二氏病是一种遗传疾病,由父母传给子女。当子女从父母双方遗传了这种基因时,就会发病。

风险因素

导致泰萨二氏病的风险因素包括祖先来自于下列社区:

  • 东欧和中欧犹太人社区(阿什肯纳兹犹太人)
  • 魁北克的某些法裔加拿大人社区
  • 宾夕法尼亚州的旧秩序阿米什人社区
  • 路易斯安那州的卡津人社区