Tay-Sachs Disease
348
relevant articles (1 outcomes,
24 trials/studies)
found for this Disease
Description:
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.
Also Known As:
Amaurotic Familial Idiocy; Deficiency Disease Hexosaminidase A; Familial Amaurotic Idiocy; GM2 Gangliosidosis, B Variant; GM2 Gangliosidosis, Type I; Gangliosidosis GM2, Type I; Amaurotic Idiocy, Familial; Idiocies, Familial Amaurotic; Tay Sachs Disease; Tay Sachs Disease, B Variant; G(M2) Gangliosidosis, Type I; Gangliosidosis G(M2), Type I; Gangliosidosis GM2, B Variant; Hexosaminidase A Deficiency Disease; Tay-Sachs Disease, B Variant
Relationship Network
Disease Context: Research Results