Sandhoff disease is an extremely challenge disease that bears resemblance in the way it is expressed to Tay-Sachs; sometimes it is called a serious form of Tay-Sachs and other times it is identified as a close relative of it. Both diseases tend to be fatal and affect the body in a similar way, but Sandhoff may be more likely to occur in a larger population of people. Tay-Sachs disease tends to most likely occur in the Jewish population. Both illnesses destroy the nervous system by allowing for an accumulation of lipids in the major organs, which ultimately destroys functioning and results in death.
There are actually three forms of Sandhoff disease and these are classed on when they occur. The most common is the infantile form, which tends to cause death by the time children are three. Juvenile or late onset/adult forms exist also. In these cases the enzyme needed to break down lipids may be produced to some degree, but is still in too short of a supply to be fully effective. Type may most determine quality of life and life length, with late onset types probably leading to a much longer life span.
The symptoms of Sandhoff disease include changes in head shape as the brain expands, development of seizures, loss of motor function, blindness and muscle contractions. Other symptoms may appear, and these could be to greater or lesser degree depending on type. Ultimately fatty deposits especially in the brain, result in severely reduced brain function that is not life sustaining.
As with Tay-Sachs, Sandhoff disease has no cure. There continues to be hope of a cure and researchers look to new technologies like stem cell research to find a way to make up for missing enzymes that allow for lipid accumulation. There may be opportunities to participate in clinical trials, given the drive to cure this illness. Organizations like the US National Institutes of Health may have clinical trial information, and doctors supporting people with Sandhoff disease may possess such information, too.
In absence of a cure, understanding the way Sandhoff disease is inherited is important. The inheritance pattern is called autosomal recessive, which means both parents must carry a recessive gene in order for the condition to occur in a child at any stage of life. People might have a gene for this if they had a sibling with Sandhoff or if their parents had a sibling with the condition.
When both potential parents carry a recessive gene, they have a 25% chance with each pregnancy of having a child with Sandhoff disease. There’s also a one in two chance that a child will end up with a recessive gene. While this gene is not expressed, it means carriers would need genetic testing with partners later in life. With testing, parents can determine if they are at risk, or if they plan to take the risk of having a child who may develop this condition.
