Tay-Sachs

==...........................T a y - S a c hs........................ ==

............................Who first discovered this disorder?............................ = Tay-Sach was discovered by a British ophthalmologist in 1881, by the names of Warren Tay. The disease was named after his discovery. Later, a New York neurologist, by the name of Bernard Sachs describes the cellular changes and the genetic nature of the disease, in 1887. Then combined their names together to get Tay-Sach. Bernard observed certain neurons in babies autopsy tissue. The trigger to study the tissues wasn’t after red spots and neuronal swelling in the 1930s. =

.........What are the symptoms associated with this disorder?  ..........

= Symptoms begin as an infant, at 6 months of age. Symptoms are: = = = = The disease has no cure and only has a treatment to target the symptoms. It helps reduced complications. The disorder can be fatal if not treated. A child with Tay-Sach usually does not last up to 4 years. The disorder is commonly found in infants but can be found in elderly and teens. = ...................What is the inheritance pattern of the disorder:  ................... = The disorder is inherited autosomal recessive manner. It means that both of the parents have to carry the gene to pass it onto their offspring. A parent can’t do anything during or before the pregnancy to cause Tay-Sach. The parent doesn’t show signs when they carry the Tay-Sach gene. = = The child has a: = = =
 * = Loss of motor skills, including turning over, crawling and sitting up =
 * = Exaggerated reactions when the baby hears loud noises =
 * = Seizures =
 * = Vision and hearing loss =
 * = "Cherry-red" spots in the eyes =
 * = Muscle weakness =
 * = Movement problems =
 * = 1 in 4 chance to have the disease =
 * = 1 in 2 chance to be an unaffected carrier like each parent =
 * = 1 in 4 chance to be unaffected and not a carrier =

Are there any environmental factors that can affect the symptoms? Tay-Sach has no factors that affect the symptoms.

.........................How common is the disorder?  ............................. = = = Tay Sachs is rare. Your parents can pass it down if they have the ancestors that carried the gene. = = = = These are the certain ancestors that carry the gene. = ................What tests confirm a diagnosis of the disorder?................... = The diagnosis of Tay-Sachs disease may be confirmed by a thorough clinical evaluation and specialized tests, such as blood tests that measure the levels of hexosaminidase A in the body. Doctors use Genetic testing to look for the disorder. Blood tests can determine whether individuals are carriers of Tay-Sachs disease. =
 * = Eastern and Central European Jewish communities (Ashkenazi Jews) =
 * = Certain French Canadian communities in Quebec =
 * = Old Order Amish community in Pennsylvania =
 * = Cajun community of Louisiana =

.......... <span style="color: #ff00ff; font-family: &#39;Amatic SC&#39;; font-size: 24pt; vertical-align: baseline;">Which chromosome is responsible for the disorder?........... = Tay-Sachs disease is caused by a change (mutation) in the hexosaminidase subunit alpha (HEXA) gene.The HEXA gene regulates the production of the enzyme hexosaminidase A.In infantile Tay-Sachs disease, there is an almost complete lack of hexosaminidase A. In late-onset Tay-Sachs disease, there is a deficiency of hexosaminidase A enzyme activity. = = = = = = **............................................................WORK CITED!!!.....................................................** = = [] = = [] = = [] = = [] = = =