Sandhoff’s disease is a fatal disease that affects the nervous system by allowing lipids to build up in major organs, disrupting functioning and resulting in death. There are three forms of the disease, with the infantile form being the most common and causing death by age three. Symptoms include changes in the shape of the head, seizures, loss of motor function, blindness, and muscle twitching. There is no cure, but researchers are looking to new technologies such as stem cell research to find a way to compensate for the missing enzymes that allow lipids to accumulate. The disease is inherited through an autosomal recessive pattern, meaning both parents must carry a recessive gene for the condition to occur in a child.
Sandhoff’s disease is an extremely challenging disease that resembles Tay-Sachs in the way it is expressed; it is sometimes called a serious form of Tay-Sachs and other times it is identified as a close relative of him. Both diseases tend to be fatal and affect the body in similar ways, 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 diseases destroy the nervous system by allowing lipids to build up in major organs, which ultimately disrupts functioning and results in death.
There are actually three forms of Sandhoff’s disease and these are classified when they occur. The most common is the infantile form, which tends to cause death by age three. There are also juvenile or late/adult onset forms. In these cases the enzyme needed to break down the lipids may be produced to some extent, but it is still too short to be fully effective. Type may determine the quality and length of life the most, with late-onset types likely leading to a much longer lifespan.
Symptoms of Sandhoff’s disease include changes in the shape of the head as the brain expands, developing seizures, loss of motor function, blindness, and muscle twitching. Other symptoms may appear, and these may be to a greater or lesser extent depending on the type. Ultimately fat deposits, especially in the brain, result in severely impaired brain function that is not life sustaining.
As with Tay-Sachs, Sandhoff disease has no cure. There continues to be hope for a cure, and researchers are looking to new technologies such as stem cell research to find a way to compensate for the missing enzymes that allow lipids to accumulate. There may be opportunities to participate in clinical trials given the drive to treat this disease. Organizations such as the US National Institutes of Health may have information about clinical trials, and doctors who support people with Sandhoff disease may also have that information.
In the absence of a cure, it’s important to understand how Sandhoff’s disease is inherited. The pattern of inheritance is called autosomal recessive, meaning both parents must carry a recessive gene for the condition to occur in a child at any stage of life. People might have a gene for it 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 in each pregnancy of having a child with Sandhoff’s disease. There is also a one in two chance that a child will have 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 whether they are at risk or intend to take the risk of having a child who could develop this condition.
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