The Importance of Early Recognition of Tay-Sachs and Sandhoff Disease

Classic Presentation

16 min · 24 de jul de 2023

Descripción

infantile juvenile late-onset phenotype symptoms

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4 episodios

Emerging Treatments for TSD and Sd

* blood-brain barrier * substrate reduction therapy * miglustat * venglustat

Mild Juvenile and Adult-Onset Variants

* juvenile GM2-gangliosidosis * late-onset GM2-gangliosidosis * differential diagnosis

Classic Presentation

infantile juvenile late-onset phenotype symptoms

Case Discovery

* GM2-gangliosides * beta-hexosaminidase * genetics * epidemiology