Looking “Cherry Red Spot Myoclonus” in the Eyes: Clinical Phenotype, Treatment Response, and Eye Movements in Sialidosis Type 1

Sialidosis type 1 is a rare lysosomal storage disorder caused by mutations of the neuraminidase gene. Specific features suggesting this condition include myoclonus, ataxia and macular cherry-red spots. However, phenotypic variability exists. Here, we present detailed clinical and video description o...

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Detalles Bibliográficos
Autores principales: Riboldi, Giulietta M., Martone, John, Rizzo, John-Ross, Hudson, Todd E., Rucker, Janet C., Frucht, Steven J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Ubiquity Press 2021
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8681143/
https://www.ncbi.nlm.nih.gov/pubmed/34992946
http://dx.doi.org/10.5334/tohm.652

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8681143/
https://www.ncbi.nlm.nih.gov/pubmed/34992946
http://dx.doi.org/10.5334/tohm.652

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