Catalog

Sialidosis type 1

No MMS code

Link to WHO Definition

Sialidosis type 1 – http://id.who.int/icd/entity/1154773192

Type 1 sialidosis, also called normomorphic or 'cherry-red-spot, myoclonus' syndrome is a form of sialidosis, a lysosomal storage disease belonging to the group of oligosaccharidoses or glycoproteinoses, and is characterised by walking difficulties and/or a loss of visual acuity and a cherry-red spot on the retina. They may also have generalised myoclonus, in some cases associated with seizures.