What Is Sandhoff Disease?
Sandhoff Disease (SD) is a genetic disorder which is marked by the steady deterioration of the nerve cells in the brain and spinal cord (i.e., central nervous system). SD, which is a severe variant of Tay-Sachs disease, typically first presents at about 3 to 6 months of age. SD symptoms include physical weakness (for example, infants usually have difficulty crawling, rolling over and sitting upright), blindness or other eye and vision problems, mental retardation or other severe mental disability, an unusually enlarged head, enlarged organs, seizures, bone defects, and overreaction to sound (easily startled). A hallmark characteristic of SD is the appearance of a bright red spot on the eye which can be detected readily through routine eye examination.
In a limited number of cases, SD has first presented later in life, such as later in childhood or even in adulthood. Individuals who first experience SD-caused symptoms later in life typically suffer from a milder form of SD than do those who are stricken during infancy.
No matter at what age SD symptoms first arise, treatment options are limited. The typical treatment course is to keep the affected individual well-fed and hydrated, to keep the airways open, and to provide anticonvulsants to help treat seizures. Sadly, most individuals who are inflicted with SD die prior to age three. In many cases, death is due to respiratory infection. While SD can strike people of any background, it is more commonly seen in people from Canada (and Saskatchewan in particular), Argentina, and Lebanon than it is in other parts of the world.