Sialidosis type 1 (Q97048): Difference between revisions
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A sialidose tipo 1, também chamada de normomórfica ou 'mancha vermelha-cereja, síndrome de mioclonia' é uma forma de sialidose, uma doença de depósito lisossomal. Pertence ao grupo das oligossacaridoses ou glicoproteinoses, e é caracterizada por dificuldades de locomoção e/ou perda de acuidade visual e uma mancha vermelho-cereja na retina. Podem ocorrer mioclonia generalizada, em alguns casos associada a convulsões. | |||
| description / en | description / en | ||
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. | |||
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 |
|---|---|---|---|
| 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. |
