Sandhoff Disease

Overview

An autosomal recessive neurodegenerative disorder characterized by an accumulation of G(M2) GANGLIOSIDE in neurons and other tissues. It is caused by mutation in the common beta subunit of HEXOSAMINIDASE A and HEXOSAMINIDASE B. Thus this disease is also known as the O variant since both hexosaminidase A and B are missing. Clinically, it is indistinguishable from TAY-SACHS DISEASE.

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 Sandhoff Disease

Topic type

Condition

Category

Neurology

MeSH classification

C10.228.140.163.100.435.825.300.300.249|C16.320.565.189.435.825.300.300.249|C16.320.565.398.641.803.350.300.700|C16.320.565.595.554.825.300.300.800|C18.452.132.100.435.825.300.300.249|C18.452.584.563.641.803.350.300.700|C18.452.648.189.435.825.300.300.249|C18.452.648.398.641.803.350.300.700|C18.452.648.595.554.825.300.300.800

Preparing for an appointment about Sandhoff Disease

If you are speaking with a healthcare professional about Sandhoff 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.

Finding care related to Sandhoff Disease

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