Tay-Sachs+Disease


 * __Tay-Sachs Disease:__ **

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The HEXA gene is part of chromosome 15 and provides instructions to make a part of beta-hexosaminidase, an enzyme that is in lysosomes and helps with breaking down a fatty substance called GM2 ganglioslide. Tay -Sachs disease is when there is a mutation in this gene. The mutation causes the enzyme to not work as well or at all. This causes a toxic level of GM2 to build up on the nerve cells in the brain and spinal cord which eventually destroys these cells. The severe form of Tay-Sachs occurs in infants. The more severe being the one that was caused by the complete destruction of the enyme. The less severe one occurs later in life and was caused by the enzyme not working as well as it is supposed to. Later in life means when the person gets it as a child or an adult. This form is rare though and doesn't occur nearly as much as when the disease occurs in infants. To find out where I got this information and more about the HEXA gene click [|here].
 * HEXA Gene**

Tay-Sachs is a hereditary diseaese and only happens when a person has both recessive genes for it. Tay-Sachs is a very rare disease. The chance to get it is higher if you are of Eastern European or Askhenazi Jewish descent. Blood tests reveal if you have this diseaese or carry a mutated gene of it. Thorugh these screenings the occurance of it happening in these two groups is less high than it used to be.It is becoming comon in some communities of Quebec, the Old Order Amish in Penn. and in the Cajun's of Louisiana. For the sources of this information click [|here] and [|here.]
 * Commonality of the Disorder**



[|Symptoms] All people suffering from Tay-Sachs have a "cherry-red spot" on the eye which can not be seen with the naked eye but can be seen with an eye exam. The red dot is located in the back of the eye in the retina. The sources also include the sites above as well.
 * Infantile TSD:**
 * Blind
 * Deaf
 * Unable to Swallow
 * Muscle atrophy
 * Paralysis
 * Dementia
 * Mental retardation
 * Seizures
 * Increased startle reflex to noise
 * Juvenile TSD:**
 * Unsteady gait
 * Difficulty swallowing
 * Muscle weakness
 * Speech problems
 * Spasticity
 * Adult/Late Onset TSD**
 * Unsteady gait
 * Speech problems
 * Muscle weakness
 * Progressive neurological deterioration
 * Mental illness

There is no cure for this disease. Infants who get this disease typically die by the age of 4. Children who suffer from Juvenile TSD usually die from between ages 5-15 and Adults who get it are typically confined to a wheelchair. Medicine can help with the seizures for when you are an infant and the mental problems for when you are an adult. Other techniques can help the child for a while like nutrition and hydration to help keep the airway open, but there really is no treatment for the disease. The best cure is to prevent it by not having a child if both the parents carry the gene.
 * Treatment/Solutions**