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.
| Synonym |
|---|
| Hexosaminidase Activator Protein Deficiency Disease |
| AB Variant GM2-Gangliosidosis |
| AB Variant Gangliosidosis GM2 |
| Gangliosidosis GM2, AB Variant |
| Hexosaminidase Activator Deficiency |
| Gangliosidosis GM2, Type AB |
| GM2 Activator Deficiency |
| GM2-Gangliosidosis, AB Variant |
| GM2 Activator Deficiency Disease |
| GM2 Gangliosidosis, Type AB |
| Activator-Deficient Tay-Sachs Disease |
| Activator Deficiency GM2 Gangliosidosis |
| GM2 Protein Activator Deficiency Disease |
| Tay-Sachs Disease, AB Variant |
| Deficiency Disease, GM2 Protein Activator |