Tay+Sachs

Single Allele dominant/recessive Multiple Allele Polygenic X-Linked Sex-Influenced Nondisjunction || Tay Sachs is a Single Allele Dominant Recessive caused disorder. It is monogenic trait that is caused by insertion/frame shift. It is not sex influenced. || -alternative names of the disorder -frequency (how many people in the world have this, how many babies a year are born with this?) || Tay Sachs is also referred to as [|GM2 gangliosidosis]. One out of every 250 people are diagnosed with Tay Sachs around the world. The highest concentration of Tay Sachs disease is found in the Ashkenazi Jewish population. One for every 27 Jewish person in the United States carries the Tay Sachs disease. || -how does it affect individuals with the disorder, what is it like to have it, problems associated with the disorder -is it life threatening, physically limiting? || Tay Sachs is classified into three different forms: 1. Infantile Tay Sachs: Children develop normally for the first six months of their development. As the child reaches age one, they begin to lose simple muscle and brain functions, such as swallowing, and the child becomes deaf and blind. Usually children with infantile Tay Sachs die by age four. 2. Juvenile Tay Sachs disease: Develops in children between two and ten years old. They have difficulty with motor and cognitive functions, and they usually die by the age of five and fifteen years. 3. Adult/Late Onset TSD: The disease occurs in the ages of adults 20 to 30 years old. || -Life-style adaptations, Education || Respiratory Care: People with Tay Sachs disease have frequent problems breathing because they build up excess amounts of mucus in their lungs, and they are more prone to lung infections that others. It is important for the parents of a Tay Sachs child to know how to perform chest physiotherapy when the child has major difficulty breathing. Physical therapy: Physical therapy is important for people with Tay Sachs because they need to make sure that their joints do not become stiff, and they could also get contractures. Medication: Some medications help patients with some of their symptoms, but the effectiveness of the medicine varies depending on the individual. Children with Tay Sachs disease commonly die at the age of five, so they would not have attended school. For some rare cases, a child with Tay Sachs disease could live to the age of 15, but bodily functions would function very slowly, and the child would not be able to function properly. Parents of a Tay Sachs child should try to make the child’s life as comfortable as possible before the child passes away. || -Can it be prevented? -If so, HOW? -If not, WHY not? || Tay Sachs can be prevented with today’s methods. The offspring can be tested through either an Amniocentesis or a Chronic Villus sampling. The amniotic fluid can be tested to see if the baby will have Tay Sachs disease. If the baby is diagnosed with Tay Sachs disease, the couple having the child could choose to abort the baby. The couple could also choose to use artificial insemination, where a sperm donor’s sperm will be used in replacement of the Tay Sachs carrying sperm. || -Can it be detected? -If so, HOW? -If not, why? || Usually people with Tay Sachs have a small cherry-colored red spot in the back of their eye. This is a result of having conglomerates of gangliosides in the back of a person’s eye. If the patient hasn’t been diagnosed with Tay Sachs, and this red dot is seen in the back of the patient’s eye, it is a clear sign that the individual has Tay Sachs disease. Blood tests can also determine if the person has Tay Sachs disease. Because people with Tay Sachs disease do not produce the essential enzyme Hexosaminidase A, the blood is tested to check for any lack of this enzyme. If the test shows that there is very little or no Hexosaminidase A in the blood, the person has Tay Sachs disease. ||
 * ** 1. Causes: ** Autosomal or sex-linked? Chromosome (which #?) or Gene mutation (which gene?) || Autosomal mutation of the HEXA gene on chromosome 15 ||
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