Tasacs
Tay-Sachs and Sandhoff diseases are inherited diseases of the central nervous system. These diseases have the same symptoms, though they are caused by mutations (changes) in different genes. A form of each disease affects babies and is fatal.What are the symptoms of Tay-Sachs and Sandhoff diseases?
Babies with the classic (infantile) forms of Tay-Sachs and Sandhoff diseases appear healthy at birth and seem to develop normally for the first few months of life. Symptoms generally appear by about 6 months of age when an apparently healthy baby gradually stops smiling, crawling, turning over and reaching out. The baby continues to lose skills gradually and eventually becomes blind, paralyzed and unaware of surroundings. Babies with Tay-Sachs disease usually die by age 5, and those with Sandhoff disease by age 3.
Is it possible you mean Takayasu’s disaease? Takayasu’s Arteritis is a rare, chronic, inflammatory disease primarily of the aorta and its branches. If so the following links should help.
Babies with classic Tay-Sachs and Sandhoff diseases lack an enzyme (protein) called hexosaminidase. There are two versions of this enzyme, hex A and hex B. Babies with Tay-Sachs disease do not make hex A, and babies with Sandhoff do not make either hex A or hex B. A small number of babies with Tay-Sachs disease (AB variant) make both versions of the enzyme, but lack another protein that is needed for these enzymes to work properly
While babies with classic Tay-Sachs do not produce any hex A, individuals with the late-onset forms produce very small amounts of the enzyme. This is probably why their symptoms begin later in life and generally are milder than in the classic form.
Individuals with adult-onset Tay-Sachs disease (also called chronic Tay-Sachs disease) have far milder symptoms than children with the classic or juvenile forms. Symptoms usually begin between adolescence and the mid-30s, although they can begin in childhood (4). Affected individuals usually do not lose vision or hearing. Some individuals may have loss of certain mental abilities, including problems with memory and comprehension. Symptoms vary greatly in severity and can include slurred speech, muscle weakness, muscle cramps, tremors, unsteady gait and sometimes mental illness. Life expectancy is variable, and in some cases appears to be unaffected.
Researchers are investigating whether stem cell transplants (sometimes called bone marrow transplants) could help babies with classic Tay-Sachs and Sandhoff diseases. Stem cells are immature blood cells that produce all other kinds of blood cells. Stem cells are obtained from umbilical cord blood or from the bone marrow of a donor. Unfortunately, stem cell transplantation has not yet been successful in stopping or reversing brain damage in Tay-Sachs or Sandhoff diseases, and this treatment poses a high risk of death in affected babies
