Familial amaurotic idiocy

Japanese: 家族性黒内障性白痴 - かぞくせいこくないしょうせいはくち（英語表記）familial amaurotic idiocy

This syndrome is a representative type of cerebral or neurolipidosis (congenital lipid metabolism disorder), and is divided into four types depending on the age at which the disease begins: infantile, toddler, juvenile, and adult. The most common type is the infantile type, which is called Tay-Sachs disease. Tay-Sachs disease is sometimes used to refer to amaurotic idiocytosis as a whole. It is caused by a congenital lipid metabolism disorder, and fat accumulates in ganglion cells, causing various functional disorders. The disease begins several months after birth, and patients become indifferent to their surroundings, and due to a decrease in muscle tone, they are unable to hold their head up and tend to lie down. They become sensitive to sound, and experience reduced motor function, growth retardation, and visual impairment. Muscle tone gradually becomes spastic, causing decerebrate rigidity and epileptiform convulsions. The prognosis is poor, and there is no effective treatment yet. It is said to be inherited as an autosomal simple recessive disorder, and is more common among Jewish people.

Source: Encyclopaedia Britannica Concise Encyclopedia About Encyclopaedia Britannica Concise Encyclopedia Information

Japanese:

脳または神経リピドーシス (先天性脂質代謝異常性) の代表ともいうべき症候群で，発病年齢により，乳児型，幼児型，若年型，成人型の4型に分けられる。このうち代表的なのは乳児型で，これはテイ・ザックス病 (Tay-Sachs disease) と呼ばれる。テイ・ザックス病が黒内障性白痴全体をさすこともある。先天性の脂質代謝異常によって起り，神経節細胞内に脂肪が蓄積して各種の機能障害を起す。生後数ヵ月で発病し，患者は周囲に無関心となり，筋肉の緊張低下のため首のすわりが悪く，横臥したままとなる。音に敏感になり，運動機能の低下，発育障害，視力障害が現れる。筋緊張は次第に痙直性となり，除脳硬直，てんかん様けいれんを起す。予後は不良で，有効な治療法はまだない。常染色体性単純劣性遺伝といわれ，ユダヤ人に多い。

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