Catalog

Sandhoff disease

No MMS code

Link to WHO Definition

Sandhoff disease – http://id.who.int/icd/entity/708581915

Sandhoff disease is a lysosomal storage disorder from the GM2 gangliosidosis family and is characterised by central nervous system degeneration, with startle reactions, early blindness, progressive motor and mental deterioration, macrocephaly and cherry-red spots on the macula. Patients may have a doll-like face, hepatosplenomegaly and recurring respiratory tract infections.