Sialidosis type 1

Orpha code: 812OMIM code: 256550

Definition

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.

Disease data
Classification

Disease

Synonyms
Cherry-red spot-myoclonus syndrome
Lipomukopolisacharydoza
Zespół skurczów mioklonicznych z wiśniowymi plamkami
Lipomucopolysaccharidosis
Normomorphic sialidosis
ORPHA code
812
OMIM code
256550
ICD10 code
E77.1
ICD11 code
5C56.21

No additional description.

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