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.
Inga svenska synonymer finns.
Tay Sachs Disease, AB Variant — Hexosaminidase Activator Deficiency — Activator Deficiencies, Hexosaminidase — Activator Deficiency, Hexosaminidase — Deficiencies, Hexosaminidase Activator — Deficiency, Hexosaminidase Activator — Hexosaminidase Activator Deficiencies — AB Variant GM2-Gangliosidosis — AB Variant GM2-Gangliosidoses — AB Variant GM2 Gangliosidosis — GM2-Gangliosidoses, AB Variant — Variant GM2-Gangliosidoses, AB — Variant GM2-Gangliosidosis, AB — GM2 Activator Deficiency — Activator Deficiencies, GM2 — Activator Deficiency, GM2 — Deficiencies, GM2 Activator — Deficiency, GM2 Activator — GM2 Activator Deficiencies — GM2-Gangliosidosis, AB Variant — GM2 Gangliosidosis, AB Variant — Activator-Deficient Tay-Sachs Disease — Activator Deficient Tay Sachs Disease — Activator-Deficient Tay-Sachs Diseases — Disease, Activator-Deficient Tay-Sachs — Diseases, Activator-Deficient Tay-Sachs — Tay-Sachs Disease, Activator-Deficient — Tay-Sachs Diseases, Activator-Deficient — GM2 Gangliosidosis, Type AB — Activator Deficiency GM2 Gangliosidosis — Deficiency Disease, GM2 Protein Activator — Gangliosidosis GM2, AB Variant — Gangliosidosis GM2, Type AB — GM2 Activator Deficiency Disease — GM2 Protein Activator Deficiency Disease — Hexosaminidase Activator Protein Deficiency Disease — AB Variant Gangliosidosis GM2