Definition: 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.
Other names Tay Sachs Disease, AB Variant; Hexosaminidase Activator Protein Deficiency Diseas; GM2 Activator Deficiency Disease; Deficiency Disease, GM2 Protein Activator; AB Variant Gangliosidosis GM2; Gangliosidosis GM2, Type AB; Gangliosidosis GM2, AB Variant; GM2 Protein Activator Deficiency Disease
