Lipid storage disease that results from a congenital enzyme deficiency

Leads to progressive mental and motor deterioration

Always fatal, usually before age 5

About 100 times more common (about 1 in 3,600 live births) in those with Ashkenazic Jewish ancestry than in the general population

About 1 in 30 Ashkenazi Jews, French Canadians, and American Cajuns heterozygous carriers of the gene for this disorder

Rare form occurring in people between ages 20 and 30

No known cure

In this autosomal recessive disorder, the enzyme hexosaminidase A is absent or deficient.

Without hexosaminidase A, lipid pigments (ganglioside GM2) accumulate and progressively destroy and demyelinate central nervous system cells.

Juvenile form typically appears between ages 2 and 5 as a progressive deterioration of psychomotor skills and gait.

Autosomal recessive disorder

Familial history of Tay-Sachs disease

Normal appearance at birth (but with possible exaggerated Moro’s reflex)

Onset of clinical signs and symptoms between ages 5 and 6 months

Progressive deterioration

Psychomotor retardation

Blindness