" /> Sialidosis type 1 - CISMeF





Preferred Label : Sialidosis type 1;

ICD-11 definition : 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 characerized 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.;

ICD-11 synonym : Normomorphic sialidosis; Cherry-red-spot-myoclonus syndrome; Lipomucopolysaccharidosis;

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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 characerized 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.

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04/05/2025


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