GM2 gangliosidosis, AB variant

info · Genetic

A GM2 gangliosidosis that is characterized by normal hexosaminidase A (HEXA) and hexosaminidase B (HEXB) but the inability to form a functional GM2 activator complex.

Signs and symptoms

Exaggerated startle response
GM2-ganglioside accumulation
Hypotonia
Myoclonic seizure
Global developmental delay
Hypertonia
Poor head control
Dystonia
Seizure
Generalized hypotonia

Also known as: GM2 Activator Deficiency; Tay-Sachs disease AB variant; Tay-Sachs disease, variant AB