A progressive neurodegenerative disorder that begins with muscle weakness, then progresses to startle reaction, retardation and seizures. It is characterized by the accumulation of G(M2) GANGLIOSIDE in neurons that is caused by a lack of G(M2) ACTIVATOR PROTEIN function. The AB variant designation refers to the increase of both HEXOSAMINIDASE A and HEXOSAMINIDASE B in tissues that lack of G(M2) activator protein.

Synonyms: Activator Deficiencies, Hexosaminidase, GM2 Activator Deficiency, Deficiencies, GM2 Activator, Activator Deficiencies, GM2, Tay-Sachs Disease, Activator-Deficient, GM2 Gangliosidosis, AB Variant, Gangliosidosis GM2, AB Variant, Diseases, Activator-Deficient Tay-Sachs, Hexosaminidase Activator Deficiencies, Tay-Sachs Diseases, Activator-Deficient, Variant GM2-Gangliosidosis, AB, AB Variant GM2-Gangliosidosis, GM2 Activator Deficiencies, GM2 Protein Activator Deficiency Disease, Activator-Deficient Tay-Sachs Disease, Deficiency, Hexosaminidase Activator, Activator Deficiency GM2 Gangliosidosis, Gangliosidosis GM2, Type AB, AB Variant GM2-Gangliosidoses, Activator Deficiency, Hexosaminidase, Variant GM2-Gangliosidoses, AB, Hexosaminidase Activator Deficiency, GM2 Activator Deficiency Disease, Hexosaminidase Activator Protein Deficiency Disease, Activator Deficiency, GM2, Activator-Deficient Tay-Sachs Diseases, Deficiency Disease, GM2 Protein Activator, AB Variant Gangliosidosis GM2, Tay-Sachs Disease, AB Variant, Tay Sachs Disease, AB Variant, Disease, Activator-Deficient Tay-Sachs, Deficiencies, Hexosaminidase Activator, Activator Deficient Tay Sachs Disease, Deficiency, GM2 Activator, GM2-Gangliosidoses, AB Variant, AB Variant GM2 Gangliosidosis, GM2 Gangliosidosis, Type AB, GM2-Gangliosidosis, AB Variant