Sialidosis type 1

What is Sialidosis type 1?

Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis (see this term), characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life.

Other condition names

  • Cherry-red spot-myoclonus syndrome
  • Lipomucopolysaccharidosis
  • Normomorphic sialidosis

Inheritance type

Autosomal recessive


  • Europe: <1 in 1,000 000

Age of Onset

  • Adolescent
  • Childhood
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