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Sialidosis type 1
rareSialidosis 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.
- Identifiers
- MONDO:0019346 Orphanet:812
- Part of
- Familial mucolipidosisSialidosis
- Also known as
- cherry red spot myoclonus syndrome · cherry-red spot-myoclonus syndrome · lipomucopolysaccharidosis · myoclonus cherry red spot syndrome · Normomorphic sialidosis
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