Tay-Sachs Disease
Synonyms
Amaurotic Familial Idiocy
Amaurotic Idiocy, Familial
B Variant GM2 Gangliosidosis
B Variant GM2-Gangliosidoses
B Variant GM2-Gangliosidosis
Deficiency Disease Hexosaminidase A
Deficiency, Hexosaminidase A
Deficiency, Hexosaminidase alpha-Subunit (Variant B)
Familial Amaurotic Idiocy
G(M2) Gangliosidosis, Type I
GM2 Gangliosidosis, B Variant
GM2 Gangliosidosis, Type 1
GM2 Gangliosidosis, Type I
GM2-Gangliosidosis, B Variant
GM2-Gangliosidosis, Type I
Gangliosidosis G(M2), Type I
Gangliosidosis GM2 , Type 1
Gangliosidosis GM2, B Variant
Gangliosidosis GM2, Type I
HexA Deficiency
Hexosaminidase A Deficiency
Hexosaminidase A Deficiency Disease
Hexosaminidase alpha Subunit Deficiency (Variant B)
Hexosaminidase alpha-Subunit Deficiency (Variant B)
Sphingolipidosis, Tay Sachs
Sphingolipidosis, Tay-Sachs
Tay Sachs Disease
Tay Sachs Disease, B Variant
Tay-Sachs Disease, B Variant
Tay-Sachs Sphingolipidosis
Type I GM2-Gangliosidosis
An autosomal recessive neurodegenerative disorder characterized by the onset in infancy of an exaggerated startle response, followed by paralysis, dementia, and blindness. It is caused by mutation in the alpha subunit of the HEXOSAMINIDASE A resulting in lipid-laden ganglion cells. It is also known as the B variant (with increased HEXOSAMINIDASE B but absence of hexosaminidase A) and is strongly associated with Ashkenazic Jewish ancestry.
See Also