Catalog

Tay-Sachs disease

No MMS code

Link to WHO Definition

Tay-Sachs disease – http://id.who.int/icd/entity/215008783

GM2 gangliosidosis, variant B or Tay-Sachs disease is a progressive neurodegenerative disorder characterised by accumulation of G2 gangliosides due to hexosaminidase A deficiency. Three variants have been described according to age of onset. The infantile form (type 1 that begins between 3 and 6 months of age), the juvenile form (type 2 with onset between ages 2 and 6), and the adult or chronic form (type 3,which may begin around the age of 10)