Abstract
A study was undertaken to evaluate the extension response to sound ("startle reaction"), as well as the levels of several enzymes, as aids in the detection of patients with early or atypical Tay-Sachs' disease. A series of 17 patients with Tay-Sachs' disease showed a characteristic extension response to sound at 4 months of life and in 14 of these it was noted before the second month. Only 1 out of 315 nonneurologically impaired children, and 6 out of 282 children with neurologic afflictions other than Tay-Sachs' disease exhibited this sign. In addition all patients with Tay-Sachs' disease had a characteristic serum enzyme pattern consisting of a deficiency of fructose-1-phosphate aldolase and a significant elevation of glutamic oxaloacetic transaminase and lactic dehydrogenase activity. It is, therefore, assumed that the early and persistent extension response to sound may be used as a screening test for the detection of early or atypical Tay-Sachs' disease. A characteristic serum enzyme pattern in children having a positive extension response is further confirmation of the diagnosis.
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