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.

Descriptor ID	D049290
MeSH Number(s)	C10.228.140.163.100.435.825.300.300.750 C16.320.565.189.435.825.300.300.750 C16.320.565.398.641.803.350.300.925 C16.320.565.595.554.825.300.300.920 C18.452.132.100.435.825.300.300.750 C18.452.584.687.803.350.300.925 C18.452.648.189.435.825.300.300.750 C18.452.648.398.641.803.350.300.925 C18.452.648.595.554.825.300.300.920
Concept/Terms	Tay-Sachs Disease, AB Variant Tay-Sachs Disease, AB Variant Tay Sachs Disease, AB Variant Deficiency Disease, GM2 Protein Activator Gangliosidosis GM2, AB Variant Gangliosidosis GM2, Type AB GM2 Activator Deficiency Disease Hexosaminidase Activator Deficiency Activator Deficiencies, Hexosaminidase Activator Deficiency, Hexosaminidase Deficiencies, Hexosaminidase Activator Deficiency, Hexosaminidase Activator Hexosaminidase Activator Deficiencies Hexosaminidase Activator Protein Deficiency Disease AB Variant GM2-Gangliosidosis AB Variant GM2 Gangliosidosis AB Variant GM2-Gangliosidoses 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 AB Variant Gangliosidosis GM2 GM2 Protein Activator Deficiency Disease

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Below are MeSH descriptors whose meaning is more specific than "Tay-Sachs Disease, AB Variant".