Tay-Sachs disease

A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in th

A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23.

Signs and symptoms

• Exaggerated startle response
• Poor head control
• Hypertonia
• Pallor
• Seizure
• GM2-ganglioside accumulation
• Hypotonia
• Psychomotor deterioration
• Cherry red spot of the macula
• Generalized hypotonia

Also known as: GM2 gangliosidosis, type 1; hexosaminidase A deficiency