Friday, March 6, 2009

Amaurotic Family Idiocy: A Brief History of Tay-Sachs Disease

I dusted off my copy of Pathology of the Nervous System (1921) by Drs. E. Farquhar Buzzard and J. Godwin Greenfield (both physicians at The National Hospital for the Paralyzed and Epileptic in London, UK) and came across this entry for Amaurotic Family Idiocy (Tay-Sachs Disease):

"This disease was first observed in 1881 by Warren Tay, who described fully the characteristic changes at the macula. Sachs, in 1887, investigated it from the neurological point of view and showed its familial character, as twenty-eight of his cases occurred in fifteen families. Since that time a large number of cases [have] been recorded, all of which have been the children of Jewish parents. Sachs called the disease 'amaurotic family idiocy,' but as the disease is not present at birth, but develops after the first few months, it is not properly classed as 'idiocy'."

In the nineteenth and early twentieth centuries, an idiot was defined as "a human being destitute of the ordinary intellectual powers, whether congenital, developmental, or accidental; commonly, a person without understanding from birth; a natural fool; a natural; an innocent." (Source: Webster's Revised Unabridged Dictionary from website).

'Amaurosis', by the way, means 'blindness'.


po said...

What was a concern to start writing this article? Science, of course, I believe.

Anonymous said...

Wow, that's pretty interesting. I didn't know the history behind how the condition came to be recognized and characterized.

Anonymous said...

I nursed a baby girl, 18 months old, with this condition 55 years ago in New Zealand.The main diagnostic tool was the red spot on the fundus of the eye This wee soul was unconscious and fitting when she came to hospital.She died within a short time. Her parents were certain there was no Jewish family connection,and so the mystery remained as the doctors were adamant it was a Jewish disease .That was then,of course.

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