Tay-Sachs Disease

Overview

An autosomal recessive neurodegenerative disorder characterized by the onset in infancy of an exaggerated startle response, followed by paralysis, dementia, and blindness. It is caused by mutation in the alpha subunit of the HEXOSAMINIDASE A resulting in lipid-laden ganglion cells. It is also known as the B variant (with increased HEXOSAMINIDASE B but absence of hexosaminidase A) and is strongly associated with Ashkenazic Jewish ancestry.

This information is general and should not be treated as medical advice. Always speak directly with a qualified healthcare professional before making decisions about treatment, diagnosis, procedures, medicines or care.

Quick facts about Tay-Sachs Disease

Topic type

Condition

Category

Neurology

MeSH classification

C10.228.140.163.100.435.825.300.300.500|C16.320.565.189.435.825.300.300.500|C16.320.565.398.641.803.350.300.850|C16.320.565.595.554.825.300.300.840|C18.452.132.100.435.825.300.300.500|C18.452.584.563.641.803.350.300.850|C18.452.648.189.435.825.300.300.500|C18.452.648.398.641.803.350.300.850|C18.452.648.595.554.825.300.300.840

Preparing for an appointment about Tay-Sachs Disease

If you are speaking with a healthcare professional about Tay-Sachs Disease, it can help to prepare a few details in advance.

• Write down your symptoms and when they started.
• Bring details of any medicines, supplements or previous treatments.
• Ask what tests or assessments may be needed.
• Ask what treatment or management options may be suitable.
• Ask when you should seek urgent medical help or follow-up care.

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