0
What else can I help you with?
What is the test for Sandhoff disease?
Because Sandhoff disease and Tay-Sachs disease have similar clinical symptoms, distinguishing them requires biochemical analysis. This involves a test to measure enzyme activity of the two hexosaminidase enzymes.
What is the life expectancy for Sandhoff disease?
The prognosis for Sandhoff disease is poor. Affected babies usually do not survive past the age of three and typically, death occurs due to complications associated with respiratory infections.
How is Sandhoff disease different from Tay-Sachs?
In Tay-Sachs disease, a mutation that affects the alpha subunit of the enzyme causes a deficiency in HexA. Sandhoff disease is caused by mutations that affect the beta subunit, rendering both the HexA and HexB enzymes deficient.
What are the symptoms of Sandhoff disease?
The symptoms begin with motor deficits (lack of normal movement) and a characteristic startle reaction to various sounds. Babies with Sandhoff disease progressively deteriorate in terms of motor function, and they often have seizures and myoclonus
What are the physical characteristics of a child with Sandhoff?
A typical physical feature of Sandhoff disease is the presence of cherry-red spots in the back of the eyes. Additionally, affected children have an abnormally enlarged head and appear to have a doll-like appearance.
Who is most at risk for Sandhoff disease?
As Sandhoff disease is a recessive disorder, males and females are affected with equal frequency. This disorder is more common in people with non-Jewish descent, unlike Tay-Sachs disease, which is prevalent mainly in individuals with Jewish ancestry.
What is the average age of onset for Sandhoff disease?
At birth, infants tend to be without symptoms and usually do not develop them until approximately six months of age.
Is Treatment of genetic disease the same as genetic treatment of disease?
no but as I see it treatment of genetic disease is treating a genetic problem as a genetic treatment of a disease is using genetics to stop a certain disease that can be treated with genetics
What treatment is available for Krabbe's disease?
No treatment is available for Krabbe's disease.
If someone has had this disease what is the medical treatment?
After someone has disease, what is the medical treatment?
What treatment is available for Wolman's disease?
No treatment is currently available for Wolman's disease.
Does a treatment exist for gauches disease?
Treatment but not a cure - and it is spelled Gaucher's disease.
