What is Juvenile Tay-Sachs
Juvenile Tay-Sachs is a very rare form of Tay-Sachs in children and is the result of a lack or severely reduced level of the Hexosaminidase A (Hex-A) enzyme. You can read what Tay-Sachs is here.
Early symptoms of Juvenile Tay-Sachs include lack of coordination or clumsiness and muscle weakness such as struggling with stairs. A child may also exhibit slurred speech, swallowing difficulties and muscle cramps.
Children with Juvenile Tay-Sachs slowly decline, losing their ability to walk, eat on their own and communicate. Children are prone to respiratory infections and often experience recurrent bouts of pneumonia while many have seizures.
Juvenile Tay-Sachs has a broad range of severity. In most cases, the earlier the first signs are observed, the more quickly the disease will progress. For example, a child with first symptoms at age 2 will decline faster than a child with first symptoms at age 5.
How it is diagnosed
Like all forms of Tay-Sachs, the Juvenile form is only confirmed by a blood test to see the actual levels of Hexosaminidase A (Hex-A) they have. All other signs may point to Tay-Sachs before this test is done, however it may be that the child has another metabolic condition which is why the blood test is important in the diagnostic process.
If the blood test confirms Juvenile Tay-Sachs then all members of the parents family should be tested to determine whether they are also a carrier of the disease. As an autosomal recessive disease it requires both parents of a child to be a carrier.