Tay-Sachs Disease Case Study

Main Point C: The similarities and differences between Tay-Sachs and Fragile X as wells as the similarities and differences between Alzheimer’s and Parkinson’s.

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.

In order to review their inherited genetic risks and help them understand and provide counseling according to their specific needs the genetic counselor should know the Trosacks ' have already established that their unborn child has Tay Sachs disease and based on those needs they should be provided with appropriate guidance and counseling as they progress through their pregnancy. The discussion should include what causes genetic disorders, and what that means to the Trosack couple specifically, including dominant, recessive and x-linked disorders. However, recessive disorders should be fully discussed in this case. Another topic to include in the discussion are what genes and chromosomes are, and the relation to Tay Sachs disease.

There are no treatments or cures for Tay-Sachs disease; however, through palliative care,  treatment is used to keep the child comfortable. Palliative care often includes prescription medication to relieve symptoms, the use of feeding tubes, physical therapy, and respiratory care to avoid issues with the lungs and airways.

  Yes, besides those who are Ashkenazim, others can carry and give birth to a child with Tay-Sachs disease. What makes Jews of Eastern European descent so different is that their odds are a lot higher than those who are not. “In peoples around the work Tay-Sachs appears once in every 400,000 births. But it appears a hundred times more frequently- about one in 3,600 births-among descendants of Eastern European Jews, people known as Ashkenazim”.

P: After working together and people looking out for each other the team will get stronger and be more productive as there is high morale

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

Ethnicity can provide individuals with wonderful traditions and celebrations of one's heritage. However, for some Ashkenazi Jews, ethnicity brings them much more than they bargained for: a rare condition causing a wide array of liver, lung, spleen, bone and bone problems. Ethnicity brings them Type I Gaucher Disease. Type II and Type III are the two other forms of this rare genetic condition, and can occur at equal frequencies in all ethnic groups. Gaucher disease was first described in 1882 by Doctor Philippe Charles Ernest Gaucher from France (2) . Type I , the most frequently seen form of the disease, can affect people of multiple ethnic backgrounds. However, its prevalence is greatest

Tay-Sachs disease takes place when there is an absence of hexosaminidase A within the human body. Hexosaminidase A is protein that allows for the breakdown of gangliosides, or chemicals found in nerve tissue. In the absence of Hexosaminidase A, gangliosides accumulate in cells, particularly within nerve cells of the brain. The main cause of Tay-Sachs disease is identified as a defective gene on a chromosome. In order for a child to inherit the disease, the child must receive the defective gene from both parents. If the defective gene is only inherited from one parent, the child only has one copy and is considered a carrier of the disease. As a carrier, the child will not have the disease, but will be able to pass it on to offspring. Although

Acute Infant Tay-Sachs disease is a lysosomal storage disease [http://www.sciencedirect.com/science/article/pii/S0925443999000745] which belongs to a group of similarly inherited disorders that result from the defective function of a hydrolase acid. Those who suffer from Tay-Sachs disease have a diminished level of of β-hexosaminidase A, a type of hydrolic acid, which causes and increased accumulation of GM2 ganglioside in the lysosomal storage of the patient. [http://hmg.oxfordjournals.org/content/11/11/1343.full]

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. Without Hex-A, GM2 ganglioside accumulates abnormally in cells, especially the brain and spinal cord ("Learning about Tay-Sachs Disease," 2011, p. 1) 2. Over time, the amount of damage is fatal ("Tay-Sachs and Sandhoff diseases," 2014, p. 1) 5. The

The members will be a physician, a geneticist, an ethicist, a lawyer and a nurse. The physician, who is a pediatrician, makes the diagnosis of Tay Sachs. The geneticist, another specialist, provides more specific and applicable information on Tay-Sachs, such as causes and risks, prevention, diagnosis and treatment. These two specialists formulate a plan of care, which a nurse will implement. The ethicist informs them about accepted moral values and the proper human conduct, behavior and decisions in dealing with Tay-Sachs. The lawyer or legal practitioner informs the involved parties about the current laws and court decisions concerning or affecting the management of genetic disorders, such as Tay-Sachs. And the nurse carries out the detailed instructions of the geneticist and pediatrician as well as incorporates the guidelines inputted by the lawyer.

The two components of the central nervous system (CNS) are the brain and the spinal cord. Communication between the brain and the spinal cord happens through motor neurons, which are nerve cells that enable motor movement. Each motor neuron is made up of a cell body, which holds all the cell components, dendrites which send information it receives to the cell body, and an axon which sends nerve impulses to the muscle (Porth & Matfin, 2009). As electrical impulses are sent through the motor neuron, it stimulates the muscle fibers in the body to move. This is the process in which motor function happens. Therefore, the basic abilities to breathe, speak, swallow, walk and button a shirt are

Case Study: A thirty six year old male has developed severe muscle weakness throughout the body. The condition began fifteen months ago with a left foot drop and within a year, he described difficulty with speech and swallowing, muscle twitching and cramping, and muscular atrophy throughout the upper and lower limbs. Within the last two months, his breathing has become more difficult, and there has been a noticeable difference in his voice. Prior to the fifteen months, he presented little to no symptoms. The patient, a medical doctor, has a wife and two young children.