0
What else can I help you with?
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 is the treatment for Sandhoff disease?
There is no cure for Sandhoff disease, and treatment is based on lessening the symptoms once they begin. Medication is usually given to reduce seizures, for example, and a feeding tube may be inserted to prevent aspiration of feedings into the lungs.
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.
What blood test do you need to test for an auto immune disease?
The answer varies depending on the disease suspected.
Why is it best to test for disease antigens in sudden outbreaks?
It is best to test for disease antigens in sudden outbreaks right away. This is because these disease antigens tell the origin of the outbreak.
How does the antinuclear antibody test show up in Raynaud's disease?
The antinuclear antibody test of blood is usually negative in Raynaud's disease
What is the name of the genetic test for Huntington's disease so my doctor can order it?
The genetic test for Huntington's disease is commonly referred to as the "Huntington's disease genetic test" or "HTT gene testing." This test analyzes the CAG repeat expansion in the HTT gene on chromosome 4. If you're discussing this with your doctor, you can simply refer to it as the Huntington's disease genetic test, and they will know how to proceed with the ordering process.
Is there a test for kidney disease?
Yes, there are several depending on the disease being tested for.
