Tay Sachs Disorder

Treacher Collins syndrome is also known as Franceschetti-Klein syndrome and mandibulofacial dysostosis. It was originally written about by George Andreas Berry in 1889 and next by Dr. Edward Treacher Collins in a 1990 case report. In each circumstance,

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.

The cell is the basic unit of life in eukaryotic organisms. The inside of the cell is comprised of multiple subunits called organelle that all function together to maintain homeostasis and function. Each individual organelle is assigned a specific task and purpose for the cell. These tasks and purposes can range from structural support all the way to the disposal of malfunctioning organelle.1 Similarity to a machine, if one part stops functioning to full potential, serious if not fatal consequences can be faced. A shining example of the effects of a malfunctioning organelle occurs in Tay-Sachs disease. Tay- Sachs disease is a lysosomal disorder that is caused by a faulty lysosome.1 Recent studies and research have been investigating the causes and pathways Tay-Sachs disease with great success, which is amazing news for the scientific community.

It has come to my attention that you believe Tay-Sachs disease is less devastating than ALD. To make an assumption does not do you justice and I am here to inform you on each of these demyelinating diseases so you can understand why in fact Tay-Sachs disease is in fact more devastating than ALD

In conclusion, Tay Sachs Disease is an auto recessive disorder that can only be inherited by a child if both of their parents are carriers of the trait. The likelihood of a pregnancy resulting in an affected child is one in four. In addition to how the gene is transferred via parents, there has also been research concluding that there is a correlation among those carrying the gene or affected by the gene and their ancestry. TSD is considered to be a Jewish disease due to the high number of incidences of TSD occurring in the Jewish

Tay Sachs Disease is an inherited disease that results in slow destruction of the central nervous system and sensory systems, which is caused by a mutation resulting in a deficiency of a lysosomal enzyme. The missing enzyme, hexosaminidase A, functions in breaking down the fatty material ganglioside GM2, a chemical found in nerve tissue. Without this enzyme, lipids accumulate in the brain cells and destroy them, resulting in damaged nerve cells, neurological problems, and eventually leading to death several years after birth. The disease was first discovered by Waren Tay, a British ophthalmologist in 1881. Tay-Sachs disease is very rare in the general population and is relatively common among certain ethnic groups such as Eastern Europeans

Tay Sachs disease is a life threatening disease that is passed down through families. Anyone can be a carrier of Tay Sachs, but is not common in the general population. The disease is most common in the Jewish population. 1 in every 27 members is a carrier of the disease. Tay Sachs disease is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The most common form of Tay Sachs disease becomes apparent in infancy. Infants with this disorder typically appear normal until the age of 3 to 6 months, when their development slows and muscles used for movement weaken (Genetics Home Reference, 2017).

Tay-Sachs is a genetic recessive disease that causes physical and mental changes and deteriorations to be people that have the disorder. In the most common case of the disease, signs of having Tay-Sachs disease become visible around 6 months of age. Children with Tay-Sachs lose their motor skills, having a hard time crawling, swallowing, and standing. This comes from the weakening of their bones and slow development. As the disease progresses, recipients of the disease are prone to seizures, hearing and sight loss,intellectual disability, and paralysis. A cherry red spot on the eye is another common feature of people with the

Treacher Collins disease is a rare, congenital, craniofacial condition affecting bones, jaws, skin, and muscles of the face. This disorder is caused by a mutation in the gene on chromosome 5. This chromosome affects facial development. This mutation can appear new or be passed on. A person with Treacher Collins has a 50/50 chance of passing it on to their offspring. This disorder comes along with many symptoms such as small or missing ears, no ear canals, missing brow and cheek bones, speech and swallowing problems, coloboma of the eyelids, wide mouth which gives limited mouth opening, dry eye syndrome (causes infections) and downward sloping eyes. Persons with this disease can be born blind, deaf, suffer from depression and/or are unable to

In contemporary America, the media is known for routinely showing images of the ‘normal’ body of the so-called ‘regular’ people, and those interpretations are disseminated all over society. Not only does the popular media impose those idea repeatedly, they consistently display women and men as products to be sold. There are some who shamed those for even displaying such bodies to begin with like the disabled woman, Jes Sachse, a twenty-five year old Canadian who garnered attention by mirroring American Apparel ads of beautiful, but racy images of other women. The difference between her and those women is her genetic disorder called Freeman-Sheldon syndrome, which is a condition that deforms areas such as the face, hands, and feet. She ultimately gained popularity,

Tay-Sachs follows an autosomal recessive pattern – both copies of the gene possess mutations. Warren Tay first described it in 1881. Bernard Sachs was the first to describe cellular changes and the genetics of it, in 1887. Tay described a patient with a cherry-red spot on their retina. Sachs established the connection the familial connections of the disorder, noting that most babies who had Tay-Sachs were of Eastern European, Jewish descent. If symptoms and physical characteristics suggest that a child may be suffering from Tay-Sachs disease, blood tests are used to determine whether or not the child’s body is producing the necessary Hex-A enzyme. DNA is extracted from the sample in an attempt to detect mutations of the Hex-A. There is no known cure for Tay-Sachs disease. For treatment and to ease the pain of/reduce some of the side effects, doctors may prescribe seizure medications. It is highly recommended that Tay-Sachs patients begin some form of Respiratory therapy. This type of therapy is necessary because children who have Tay-Sachs have a high chance of developing lung

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 .

Tay-Sachs disease is an autosomal recessive disease of lysosome storage characterized by progressive neurologic degeneration. Children affected by Classic Infatile Tay-Sachs disease manifest the first symptoms at around 6 months and die before reaching 5 years of age. The signs and symptoms are severe including deafness, blindness, dementia, and recurrent convulsions during the terminal stage when affected children are confined. When symptoms appear in adolescence or early adulthood, this is called the Late-onset TaySachs disease (chronic form), a rare variant phenotype. A juvenile form is also distinguished, with an intermediate presentation. This appears between ages two to five, but can occur anytime in childhood. This disease was named

Tay sachs disease is a rare disease that shows up in children at the age of 3-6 months that makes brain cells die it could also cause kids too loose helpful motor skills that they need. It could also make people that are older lose hearing and or vision. Tay sachs causes a cherry red spot in your eye which Wikipedia says “ a cherry red spot is a finding in the macula of the eye in a variety of lipid storage disorders and in central retinal artery occlusion.” another symptom is seizures can occur in anyone that has this disease tay sachs disease is mostly found in jewish people. When you have tay sachs disease you will most likely die when you are are an infant and if you live after infancy then you will most likely die before 50. If you have a severe case of tay sachs then you will most likely not live very long.

This week I chose an article about motor neuron disease because this disease is not a common disease. However, it can severely affect the well-being of our bodies. A motor neuron disease is the deterioration of motor neurons. This disease can be occasional or hereditary; it can affect two types of motors, the Upper motor neurons the Lower motor neurons located in our brain. Moreover, the signs and the symptoms of a motor neuron disease depend on the kind of motor neuron disease a person has. Amyotrophic lateral sclerosis is one of the most contracted types of neurons disease. Furthermore, there are three types of Amyotrophic lateral sclerosis including Sporadic, Familial, and Western Pacific. Among these three types