Sialidosis type 1 (Q97048): Difference between revisions
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Revision as of 13:04, 16 August 2026
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.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1154773192 |
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| English | Sialidosis type 1 |
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. |
