What is Sandhoff's disease?
Sandhoff's disease is an extremely challenge that has a similarity in the way it is expressed in Tay-Sachs; Sometimes it is called a serious form of Tay-Sachs and at other times it is identified as a close relative. Both diseases tend to be fatal and affect the body in a similar way, but Sandhoff may be more likely to occur in the larger population of people. Tay-Sachs' disease tends to be most likely to occur in the Jewish population. Both diseases destroy the nervous system by allowing lipid accumulation in the main organs that eventually destroy functioning and leads to death. The most common is an infantile form that tends to cause death until three children are. There are also juveniles or late arrival/adults. In these cases, the enzyme needed to disintegrate lipids to a certain extent, but is still too short to be fully effective. Type can most determine the quality of life and life expectancy, and late types of onset are likely to lead to much longer lifeof the way.
Sandhoff symptoms include changes in the shape of the head, as the brain expands, the development of seizures, the loss of motor function, blindness and muscle contraction. Other symptoms may occur, and they could be more or less depending on the type. Finally, oily seated, especially in the brain, results in a seriously reduced brain function that does not retain life.
As with Tay-Sachs, Sandhoff has no treatment. There is still hope of treatment and scientists are looking for new technologies such as stem cell research to find a way to replace the missing enzymes that allow lipid accumulation. There may be opportunities to participate in clinical trials, given the efforts to cure this disease. Organizations such as US National Institutes of Health may have information about clinical evaluation and doctors supporting people with Sandhoff's disease can also have such information.
In the absence of treatment, it is important to understand how the Sandhoff disease is inherited. The inheritance formula is called autosomal recessive, which means that both parents must carry a recessive gene in order to appear in a child in any life phase. People could have a gene if they had siblings with Sandhoff or if their parents had siblings with a condition.
When both potential parents carry a recessive gene, they have a 25% chance of having a child with Sandhoff's disease. There is also one of two chances that the child will end in a recessive gene. Although this gene is not expressed, it means that the carriers will need genetic testing with partners later in life. During testing, parents can determine whether they are threatened or planned to risk a child that can develop a condition.