Sialidosis type 1
Sialidosis type 1
Definition
Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis, 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.
Also known as cherry-red spot-myoclonus syndrome, lipomucopolysaccharidosis, Normomorphic sialidosis, normosomatic sialidosis — per MONDO