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Card
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Title
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Tay‑Sachs Disease
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ImagePath
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System
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Lysosomal storage disease
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Overview
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AR deficiency of β‑hexosaminidase A → GM2 ganglioside accumulation in neurons.
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Pathophysiology
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Lysosomal swelling damages CNS.
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Presentation
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3–6 mo: progressive neurodegeneration, developmental regression, hyperacusis, seizures, ‘cherry‑red’ macula, hypotonia; no hepatosplenomegaly.
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Diagnosis
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Enzyme assay; HEXA mutation; prenatal screening in Ashkenazi Jews.
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Management
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Supportive; seizure control; feeding tube.
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Epidemiology
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Tags
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