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
Myelin, the common factor in each disease, is a subsatnce that surrounds and insulates axons on some nerve cells, allowing for a faster transporting of signals and proper functioning of the nervous system. A demyelinating disease results in the damage of nerve fibers in the brain and spinal cord due to the myelin sheath being destroyed, which is life threatening.
Adrenoleukodystrophy, more commonly known as ALD, can be easily understood if one knew
Myelin covers nerve fibers and can cause communication problems between the brain and the rest of your body when diagnosed. MS can cause your nerves to deteriorate or become permanently damaged and is a potentially disabling disease of the brain and spinal cord (the central nervous system). if you pick up a hot pan by accident, your body is going to naturally want to drop the pan. Someone without MS would drop the pan right away. For someone with MS, your sensory neurons cannot send the signal to your brain and back to the motor neurons so you can drop the pan. MS can cause your nerves to deteriorate or become permanently damaged. MS is a potentially disabling disease of the brain and spinal cord (the central nervous
Multiple Sclerosis is caused by chromosome 6. It is an autoimmune disease in which the body’s immune system attacks its own tissues. Symptoms of this disorder include numbness or weakness in one or more limbs typically on one side of the body or the legs, partial or complete loss of vision, tingling or pain in parts of your body, slurred speech, and dizziness.
The central nervous system (CNS) comprises grey matter, which contains neuron cell bodies and white matter, which contains the nerve axons. Most of the nerve axons are concentrically wrapped around by lipid-rich biological membrane, known as the myelin sheath. In the CNS, myelin is produced by oligodendrocyte. a type of glial cell. (Pfeiffer et al., 1993). These electrical insulating, multilamellar membranes significantly increase the electrical resistance, in which to prevent leakage of electrical currents from the axons, as well as decrease electrical capacitance to reduce the ability of the axons to store electrical energy (Shivane &
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.
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.
Multiple Sclerosis is a disease that attacks the myelin coating over the nerve receptors in your brain and spinal cord. Myelin is a fatty material that coats and protects the nerves in your brain. These nerves send signals to the rest of your body enabling
Imagine that there is a disease that is terrible and causes trouble for you every day, there is no cure, there is only the dragging on of day after day. This is Tay Sachs Disease, it is a disease that is lifelong, that is, unless it kills you early on in life. This disease has lots of symptoms. These symptoms are a result of how the disease affects the brain and its functionality. This disease is an inherited disease, and is known as a serious genetic disease.(“Health and Wellness Resource center and Alternative Health Module”). This disease is a autosomally recessive disease that is caused by a defect in the HEXA gene which provides instructions for making part of an enzyme called beta hexosaminidase A, which is critical in the brain
“Multiple sclerosis (MS) is a disease in which your immune system attacks the protective sheath (myelin) that covers your nerves” (Mayo Clinic). The immune system is a defensive system that protects your body from diseases and illnesses such as parasites and bacteria (Science Museum). Not only does your immune system defend the human body but also the immune system can work against the body, which is known as autoimmune disease. Since the immune system is working against your body to attack the myelin, this creates an opportunity for multiple sclerosis to invade the nerves in the central nervous system (CNS). The myelin within the body acts like insulation to protect and coat the nervous system (National Multiple Sclerosis Society). Once the myelin is eroded, the nerves become exposed which then causes signals to and from the brain to become distorted or irrupted causing a wide range of symptoms to occur (National Multiple Sclerosis Society). The effect of the myelin eroding is an irreversible process (Mayo Clinic). “The damaged myelin forms scar tissue (sclerosis), which
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 disease (TSD) is a fatal genetic disorder resulting in progressive destruction of the nervous system. Tay-Sachs is caused by the absence of a vital enzyme called hexosaminidase-A (Hex-A
As a Tay-Sachs genetics counselor waiting for the arrival of my next family session, I would have to prepare by reviewing their medical file. In the file, I would be reviewing the date of birth of the child at the time of the session. Age is very important to help identify the current symptoms the child may be exhibiting and upcoming symptoms. Observed symptoms of Tay-Sachs disease in infants can be muscle weakness or paralysis, seizures, respiratory distress, loss of hearing or deafness, exaggerated startle response to sound or light, and a red spot which is located on the macula in the child’s eye. Progression of the disease is rapid and most infants will have passed by the age of 5. Discussing hospice and hospice counseling along with offering
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 .