Tay-Sachs Disorder

Tay Sachs Disease is an inherited disorder that kills nerve cells in the brain, and also in the spinal cord. A couple of things that could cause this mutation is a missing enzyme. This is an enzyme called ganglioside, that is a fatty substance. Another reason why tay sachs could appear is a change in chromosomes. This is chromosome number 15. The gene is the HEXA gene, or hexosaminidase A. This is a recessive disorder that you can only inherit if both parents have tay sachs. Some symptoms to know

Description Tay-Sachs disease, (also known as GM2 gangliosidosis or hexosaminidase A deficiency), is a fatal autosomal recessive genetic disorder caused by insufficient activity of the enzyme beta-hexosaminidase A. It is very rare, found more prevalently among certain populations, like those with Eastern European, (Ashkenazi Jewish) heritage (Bethesda, 2014), and usually results in death by the age of four. The purpose of this essay is to illustrate the pathology and inheritance patterns of this

Tay Sachs is an incurable genetic disease that affects the central nervous system. It is a rare disorder that occurs chiefly in infants and children, especially those of the Jewish heritage. It is characterized by a red spot in the retina, paralysis, gradual blindness, and loss of muscle movement. Tay Sachs can only be inherited, which means it is passed from parents to child only. The process begins in the fetus, very early in pregnancy. However, the disease does not become physically apparent

assignment, Tay-Sachs disease was one of the first choices that came to mind since it is one of many diseases associated with Ashkenazi Jews (Jews of Eastern European descent). Tay-Sachs is a deadly heritable disease caused by the absence or mutation of Hex- A, an enzyme that breaks down complex fats called gangliosides found in nervous tissue. Without Hex- A, there is a buildup of gangliosides in the cells of the brain, causing major damage to the cells (“Learning About Tay-Sachs Disease”). Tay-Sachs is

“The carrier rate for Tay-Sachs in the general population is 1/600” (OMIM). Sandhoff Disease is a rare genetic disorder, and it is a severe form of Tay-Sachs that progressively destroys cells in the brain and spinal cord. Since its discovery and analysis of inheritance, there have been advancements of its diagnosis, treatment, research, and its support resources for affected families. Those affected individuals lose motor skills and function of other body parts. As the disease progresses they experience

Tay-Sachs disease is also known as: B Variant GM2 gangliosidosis, GM2 gangliosidosis type 1, Hex A deficiency, Hexosaminidase A deficiency, Hexosaminidase alpha – subunit deficiency (Variant B), sphingolipidosis, and TSD. The main cause of Tay-Sachs is a defective Hex-A gene, and an absence of a significant enzyme known as hexosaminidase. A gene on the fifteenth chromosome codes for the generation of Hex-A, and does not function properly in Tay-Sachs patients. Each person has is intended to have

Tay Sachs Disease is one of the most deadly and rarest disease known. This disease is shown in adults and infants but it starts as a new born(Cure Tay Sachs Fundation). How does this disease happen you may ask? According to The National Human Genone Institute, it explains the following. Tay Sachs is a genetic disorder that develops because the hexosaminidase enzyme doesn’t exist in the victim’s blood cycle ( Michael Pusaeri 2007) .This enzyme is a fatty substance (Cure Tay Sach Foundaion) that has

Introduction Tay-Sachs disease got its name from Warren Tay and Bernard Sachs. Warren Tay was a British ophthalmologist who first discovered a cherry-red spot on the retina of the eye. Bernard Sachs was a neurologist from New York who later discovered and described the cellular changes of the disease. Not only did Sachs become the first person to recognize the cellular changes, but he was also able to see that the disease was most common amongst families . Genetic Component Approximately 1.2 million

Contemporary Nursing Issues (GNT1) Juanita Allen Janette Barney Western Governor 's University Task 3 724.2.5-03-08 724.2.6-02-09 Mr. and Mrs. Trosack have recently been told through chorionic villus testing, that their unborn child has Tay Sachs disease.As the case manager there should be several appropriate members identified for an interdisciplinary team to obtain information for the Trosacks ' initial visit. Those team members include, a high risk obstetrician, or perinatologist, obstetric

Genetics Word Count – 208/200 Tay-Sachs disease is also known as GM2 gangliosidosis or hexosaminidase-A deficiency ("Wikipedia," 2007, p. 1) 6. Tay - Sachs disease affects the chromosome number fifteen that codes for the production of enzyme hexosaminidase-A (Hex-A) ("Learning about Tay-Sachs Disease," 2011, p. 1)2. The disease is not related to any other factors, such as, alcoholism, drug abuse, or nervous conditions. The disorder is such that the chromosome fails to produce the Hex-A enzyme