The Importance of Early Recognition of Tay-Sachs and Sandhoff Disease
By Annenberg Center
Faculty experts, Jeanine Jarnes, PharmD, and Chester Whitley, MD, PhD delve into the rare and difficult to diagnose GM2-gangliosidoses Tays-Sachs and Sandhoff diseases. Following a discussion of the etiology and pathophysiology of these diseases, the faculty use real-life cases to illustrate the various phenotypes of these conditions, as well as key presenting signs and symptoms. Diagnostic approaches are discussed, alongside current standards of care, including supportive and palliative treatment options. Drs. Jarnes and Whitley describe key therapeutic approaches under investigation to impro
The Importance of Early Recognition of Tay-Sachs and Sandhoff DiseaseJul 24, 2023
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Emerging Treatments for TSD and Sd
- blood-brain barrier
- substrate reduction therapy
- miglustat
- venglustat
Jul 24, 202320:07
Mild Juvenile and Adult-Onset Variants
- juvenile GM2-gangliosidosis
- late-onset GM2-gangliosidosis
- differential diagnosis
Jul 24, 202310:05
Classic Presentation
Jul 24, 202316:31
Case Discovery
- GM2-gangliosides
- beta-hexosaminidase
- genetics
- epidemiology
Jul 19, 202308:45