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

  • By: Annenberg Center
  • Podcast

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

By: Annenberg Center
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  • Summary

  • 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
    Annenberg Center
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Episodes
  • Emerging Treatments for TSD and Sd

    Emerging Treatments for TSD and Sd
    Jul 24 2023
    • blood-brain barrier
    • substrate reduction therapy
    • miglustat
    • venglustat


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    20 mins
  • Mild Juvenile and Adult-Onset Variants

    Mild Juvenile and Adult-Onset Variants
    Jul 24 2023
    • juvenile GM2-gangliosidosis
    • late-onset GM2-gangliosidosis
    • differential diagnosis
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    10 mins
  • Classic Presentation

    Classic Presentation
    Jul 24 2023
    • infantile
    • juvenile
    • late-onset
    • phenotype
    • symptoms
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    17 mins
Physical Illness & Disease Hygiene & Healthy Living
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