An autosomal recessive disorder genetic condition where the enzyme called hexosaminidase A is deficient or one does not have the ability to make it or its not working as it should.
These enzymes in our body cells (the part of the body cell is called lysosome) to clean up and dispose of a fatty substance called GM2 ganglioside in the body that the body is otherwise unable to break down.
If our body cells has too much of this fatty substance theses cells begin to build up take over normal body cells functions causing symptoms.
Tay-Sachs is seen more frequently in Ashkenazi Jews, Cajuns of southern Louisiana, French Canadians of Southern Quebec, and Irish Americans.
The first signs of which will appear between the ages of three and six months and most child live until the ages of four years old.
There are two milder forms seen in children and adults:
Juvenile Tay-Sachs disease usually manifests with symptoms anywhere from two to 10 years of age. As with infantile Tay-Sachs, the progression of the disease is unremitting, leading to deterioration of cognitive skills, speech, and muscle coordination as well as dysphagia and spasticity. Death usually occurs between five and 15 years.
Late-onset Tay-Sachs disease (also known as adult Tay-Sachs) is extremely rare and will usually develop in adults between 30 and 40. Unlike the other forms of the disease, it is usually not fatal and will stop progressing after a certain amount of time. During this time, a person may experience a decline in mental skills, unsteadiness, speech difficulties, dysphagia, spasticity, and even a schizophrenia-like psychosis. Persons with late-onset Tay Sachs can often become permanently disabled and require a full-time wheelchair.
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Cause
Mutations in the HEXA gene with many variations (this depends on the onset and severity of the disease)
Family history-autosomal recessive disorder (Both parents who are carriers of the recessive genes responsible and can cause a 25% chance of their sibling getting this condition)
If both parents are carriers, a child has a 25 percent chance of inheriting two recessive genes (and getting the condition), a 50 percent chance of getting one dominant and one recessive gene (and becoming a carrier), and a 25 percent chance of getting two dominant genes (and remaining unaffected)
Please talk to your healthcare professional (i.e. Medical Doctor/Pharmacist) for further advice
Detailed Information
Please copy and paste any key words from the title: Tay-Sachs Disease in the following respective 'Medtick References and/or Sources' to find out more about the disease (this also may include diagnosis tests and generic medical treatments).
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