GM2 gangliosidosis is an inherited disorder that causes progressive damage to the nerve cells in the brain and spinal cord.

Patients with this condition have mutations (defects) in at least one of 3 genes (HEXA, HEXB, and GM2A) that are responsible for the production of proteins that break down substances called GM2 gangliosides. Because of these defects, GM2 gangliosides build up in the body, particularly in the brain and spinal cord. Signs and symptoms include muscle weakness and problems with walking, intellectual disability, difficulty speaking, seizures (fits), and loss of sight and hearing.

GM2 gangliosidosis is a debilitating and life-threatening disease. The most severe form of the disease starts in early infancy and can lead to death in childhood.