Tay-Sachs Disease, AB Variant

Overview

A progressive neurodegenerative disorder that begins with muscle weakness, then progresses to startle reaction, retardation and seizures. It is characterized by the accumulation of G(M2) GANGLIOSIDE in neurons that is caused by a lack of G(M2) ACTIVATOR PROTEIN function. The AB variant designation refers to the increase of both HEXOSAMINIDASE A and HEXOSAMINIDASE B in tissues that lack of G(M2) activator protein.

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, AB Variant

Topic type

Condition

Category

Neurology

MeSH classification

C10.228.140.163.100.435.825.300.300.750|C16.320.565.189.435.825.300.300.750|C16.320.565.398.641.803.350.300.925|C16.320.565.595.554.825.300.300.920|C18.452.132.100.435.825.300.300.750|C18.452.584.563.641.803.350.300.925|C18.452.648.189.435.825.300.300.750|C18.452.648.398.641.803.350.300.925|C18.452.648.595.554.825.300.300.920

Preparing for an appointment about Tay-Sachs Disease, AB Variant

If you are speaking with a healthcare professional about Tay-Sachs Disease, AB Variant, 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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