Tay-Sachs disease

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 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 a rare genetic disorder. Nathan Harney was only 10 months old when he was diagnosed with this fatal disease. At an early age, he started to lose his skills and had consistent seizures. He couldn’t walk, sit, or stand on his own. During a careful eye examination, Nathan’s doctor found a cherry red spot in his eye which led him to the conclusion that he suffered from Tay-Sachs. Later, after he had genetic testing, Nathan was officially diagnosed with the genetic disorder Tay-Sachs

Tay-Sachs disease is a rare genetic disorder that destroys the nerves of the brain and spinal cord (the neurons). Tay-Sachs is usually discovered during infancy, the child appears to be on track and developing normal until the first signs of symptoms become apparent. The children typically do not live past the age of 5 due to many symptoms of the disorder/disease. However there have been individuals with Adult Tay-Sachs Disease (ATSD) and Late Onset Tay-Sachs disease (LOTS) in which they develop

something like a spoon or even your finger,and lastly lack of eye contact. Scary as this scenario may seem, at least 16 babies are diagnosed with Tay-Sachs disease in United States every year. Unfortunately, the diagnosed cases are only found in toddlers because, children with this disease only survive to the age of 5 years of age. Tay-Sachs

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

There are so many deadly diseases that live among the human population, some rare others common, some curable and untreatable . Sandhoff and Tay- Sachs are among these rare and untreatable diseases. Sandhoff and Tay sachs are allied disease that causes destruction of nerves in the brain and spinal cord causing a number of harmful symptoms and effects. The lack of the Hexosaminidase A and Hexosaminidase enzyme causes many problems for its host because it is necessary for breaking down wastes within

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

TAY-SACHS DISEASE The disease is named after Warren Tay (1843-1927), a British ophthalmologist and Bernard Sachs a New York neurologist. Warren Tay discovered a patient with a cherry- red- spot on the retina of the eye which has become a clear signal of Tay-sachs disease. Later on Bernars Sachs described the cellular changes in Tay-Sachs disease. Tay-Sachs disease is a rare autosomal recessive genetic disorder that gradually destroys nerve cells in the brain and spinal cord. Mutation

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