The Importance of Early Recognition of Tay-Sachs and Sandhoff Disease
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
Episodes
- blood-brain barrier
- substrate reduction therapy
- miglustat
- venglustat
- juvenile GM2-gangliosidosis
- late-onset GM2-gangliosidosis
- differential diagnosis
- GM2-gangliosides
- beta-hexosaminidase
- genetics
- epidemiology
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