Essay on Understanding Tay-Sachs Disease

1. What is the likelihood that any of their children (sons and/or daughters) will be born with the disorder?

An individual diagnosed with a terminal illness has one major battle to fight. Families of terminally ill patients suffer significant effects related to an illness, forcing some households to have large debts and making them unable to afford food and other necessaries. One specific terminal illness is called Amyotrophic Lateral Sclerosis (ALS), also known as Lou Gehrig's disease. ALS is a disease affecting the human nervous system like the brain, muscles, and spinal cord. It is a deadly disease that cripples and kills its victims. ALS is a terminal illness that is characterized by specific symtoms and has treatments.

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 until the child is several months old. Tay Sachs is caused by the absence of a vital enzyme, called the Hex A gene, which is in chromosome 15. This gene plays an important role in the nervous system. It breaks down the fatty substance called

“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 seizures, vision/hearing loss, mental disability, paralysis, and a cherry red spot on the eye. This leads to loss of coordination, alertness, and respitory health. The disease has three forms infantile, juvenile, and late-onset. In infants

Tay-Sachs disease is a genetic disorder which results in progressive destruction of the nervous system. Children are the most common victims of the disease. In the general population, Tay-Sachs itself is rare. Tay-Sachs disease is most commonly found in people of east and central European Jewish descent, French-Canadian communities of Quebec, Cajun population of Louisiana, and the Amish. Mutations in the HEXA gene are the cause of this disease. This can happen in Prophase one of Meiosis due to the crossing of the sister chromatids in tetrad form may have mutated the chromosome encoding all the info for the Hexa gene. The HEXA gene gives instructions to make part of an enzyme called beta-hexosaminidase A. Alterations in the HEXA gene may damage

Tay-Sachs sickness is an entangled and uncommon malady that happens when there is transformation in the DNA. This change does not permit the body to create 'Hex-A', which is basic to separating greasy mixes. Without this chemical, cerebrum and nerve harm can happen. Tragically this ailment has no treatment arrange and normally by 10 months of age, the youngster may encounter visual deficiency, seizures and be formatively postponed. The visualization is tragic: the kid will once in a while live past 5 years of age. The reason the youngster has this malady is on account of it is acquired. Either one or both of the folks are a transporter of this genotype that when communicated in posterity brings about Tay-Sachs. In the event that both folks

Tay-Sachs is genetically passed disease from parents that both have the defective gene on chromosome 15 (HEX-A). This defective gene prevents the body from producing a protein called hexosaminidase. Without the hexosaminidase protein a chemical called ganglioside will build up in the nerve cells located in the child’s brain. This build up will eventually destroy the brain cells and eventually lead to death. I would explain that both parents must be carriers of the defective gene for the disease to occur and be passed onto their child. I would further explain that for them (the affected child’s parents) to be carrying the defective gene one of their parent had to be a carrier themselves. I would share the Jewish descent from central or eastern Europe as historically being the geographical origin of the disease. I would explain some of the symptoms associated with the disease and what to look for as the disease progresses. Observed symptoms of Tay-Sachs disease in infants that can start at 3 to 6 months of age can be muscle weakness or paralysis, seizures, loss of hearing or deafness, respiratory distress, exaggerated startle response to sound or light, and a red spot which is located on the macula in the child’s eye. I would recommend to the parents to seek out a specialist for comforting care. The comforting care would include but not limited to pain management, seizure control medications,

The disease originally attacks infants and may develop later in adults/older children. The discovery of the disease was made in the early 1900’s by a Danish neurologist Knud Haraldsen Krabbe. He had originated the illness when

In the hospital, Auguste D. was a patient of Alois Alzheimer, a German neurologist who had a particular interest in the microscopic analysis of brain disorders. He describes the clinical features of Auguste D. condition and

Canavan’s disease is a genetically inherited condition characterized by progressive degeneration of brain. It had high prevalence among the children of central and eastern Jewish decent. A research physician, Dr. Matalon, was contacted by Greenberg and the Chicago Charter Chapter of the National Tay-Sachs and Allied Disease Association, Inc. (NTSAD) (plaintiffs). The plaintiffs joined hands with doctor to find treatment options for Canavan’s disease. They provided him with financial support and help him built a database of genetic and epidemiological information by convincing the affected families to participate in the research. The participating families and the plaintiff shared an understanding that the discovered treatment will be available

The rate of Tay – Sachs disease is high amongst Ashkenazi Jews. In United States, 1 in 27 Ashkenazi Jews is a recessive carrier. French Canadians and the Cajun community of Louisiana have an occurrence similar to the Ashkenazi Jews. Also Irish Americans have 1 in 50 chance of being a carrier. In general population of the United States the incidence is approximately 1 in 320000. (Frisch,

Tay-Sachs disease is a disorder in the central nervous system. It is a disorder that most commonly affects infants. It is a disease that is most commonly always fatal. Tay-Sachs can also occur in teens and adults, causing less not fatal symptoms, although this occurs rarely. This disease is caused because you are missing an enzyme in the body named Hexosaminidase. Without this enzyme a fatty element called Ganglioside builds up on lysosomes which then this overcrowds the cells causing this to damage the nerve cells in the body but mainly on the brain. The effect on children begins in the fetus during the pregnancy. A baby with the disease appears normal until six months of age, when it’s development slows down. Children with this disease

Almost 95 - 130 mutations have been reported so far in the HEXA gene to cause Tay-Sachs disease. The mutation varies from base substitution, deletion, insersion to complex gene rearrrangement. But the most common mutation that results Tay-sach disease is a four base pair delition located in exon 11. The second fairly common mutation is a splice junction mutation found at intron 12. Most of these mutations are private mutations and have been present in a single or few families. Only few mutations have

The infant presented was to be examined in depth. Concern arose after a typical birth and resent changes that had taken place; exaggerated startle response, twitching and mild muscle tone loss (myoclonic jerks). Straight forward exam of: eyes, ears, nose, throat and so on. With inspection of the eyes it was noted that a spot of cherry red was detected in the eye. Cause of the red spot appearance; is from the macula cells breaking down they then expose the choroid which supplies blood to the retina. Resulting in the red spot appearance when cells have become damaged, with this detection a more in-depth family health history and genic screening would need to occur. Though Tay-sachs (TSD) is suspected it is necessary to verify the suspicion. There

The etiology of this disorder is trisomy of chromosome 13. Although most children do not survive longer than one year, it is one of the