PegDoyle Disease

Overview

Sandhoff is a progressive neurological genetic disorder caused by the absence of a vital enzyme.  It is one of over 50 genetically inherited disorders known as Lysosomal Storage Diseases.

There are 3 forms of Sandhoff

alt Infantile Sandhoff - Symptoms appear around 6 months of age.

alt Juvenile Sandhoff - Symptoms appear after the first year of life, typically between ages 2 and 5, but can occur anytime during childhood.

alt Late Onset Sandhoff - Symptoms typically appear in adolescence or early adulthood, but sometimes later.

 

Anna 10 Home
Oxana 15 Home
Elena 17 Home

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altSupport for Families - Resources collected specifically for families

altCauses- Sandhoff is caused by the absence of two vital enzymes: Hexosaminidase A (HexA) and Hexosaminidase B (HexB).

altResearch - To date, there is no treatment or cure for Sandhoff disease but there is exciting ongoing research.

altHistory of Sandhoff - The disease is named for Konrad Sandhoff, a German chemist.

altInfantile & Juvenile Support

altLate Onset Support