WHAT IS JUVENILE TAY-SACHS AND JUVENILE SANDHOFF
Juvenile Tay-Sachs and Sandhoff are a very rare form of the diseases and present in children during their early childhood.
Early symptoms of Juvenile Tay-Sachs and Sandhoff 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 the Juvenile variant slowly decline, losing their ability to walk, eat on their own and communicate. Juvenile Tay-Sachs and Sandhoff has a broad range of severity. In most cases, the earlier the first signs are observed, the more quickly the disease will progress.
HOW IS IT DIAGNOSED
Like all forms of Tay-Sachs and Sandhoff, the Juvenile form is only confirmed by a blood test to see the actual levels of Hexosaminidase A (Hex-A) or Hexosaminidase B (Hex-B) they have. All other signs may point to the diseases 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 the diagnosis s 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.