Another concern that makes this disease threatening is the lack of prenatal tests.
Another concern that makes this disease threatening is the lack of prenatal tests.
Tay-Sachs is a biological phenomenon, which tends to only occur in certain populations. Three of the most common populations in which it occurs are Ashkenazi Jews, French Canadians, and Louisiana Cajuns. Tay-Sachs is an autosomal recessive pattern that is inherited through both sides of the parents (“Tay-Sachs Disease” 5). An autosomal recessive pattern occurs when “both copies of the gene in each cell have mutations (“Tay-Sachs Disease” 3). While each parent much carry one copy of the mutated gene, they characteristically do not show any signs of Tay-Sachs (“Tay-Sachs Disease” 2).…
This article agrees with the other that this disease is hard to detect and is misunderstood by many doctors (Monhey,…
Another rare form of TSD, the symptoms of late-onset TSD develop later in life, usually during the teenage years or early adulthood (NHS). Its symptoms include slurred speech, loss of balance and coordination, tremor of the hands, and muscle cramps, twitching, and weakness (NHS). Around 1 in 3 people with late-onset Tay-Sachs disease also develop mental health conditions, such as bipolar disorder or psychosis (NHS). Unlike other forms of the condition, late-onset Tay-Sachs disease doesn't always shorten life expectancy (NHS).…
Cushing’s Disease Description Cushing’s Disease is an adrenal gland disease in which there is an excess of the steroid hormone, cortisol, within the body. With Cushing’s Disease the body releases too, much of the adrenocorticotropic hormone (ACTH). This disease is rare as it effects 10 to 15 people per million each year.…
Tay-Sachs disease (TSD), also called GM2 gangliosidosis, is an uncommon disorder that is genetically inherited, which progressively destroys cells in the central nervous system. The central nervous system consists of the brain and the spinal cord. Because the disorder is autosomal recessive, both parents must have the mutation in the gene in order for the child to be a carrier or have the disease. A child with parents that are both carriers has a 25 percent chance of getting Tay-Sachs and 50 percent chance of being a carrier.…
Tay -Sachs disease is a rare disorder that destroys nerve cells in the brain and the spinal cord. The cause of this disorder is a defective gene on chromosome 15. Symptoms of Tay - Sachs disease include muscle weakness, problems with your coordination, stiff muscles, feeling faint, trouble with swallowing, hearing loss, seizures, vision loss, and an impaired voice. It can be difficult to catch a disorder like this one. Tests that help diagnose Tay - Sachs are physical examinations, blood tests, and antenatal screenings.…
Neurofibromatosis Have you ever her of Neurofibromatosis? Neurofibromatosis is a disease that can be deadly or very harmful. This disease causes bumps to form all over your skin. It also can cause tumors in any part of the nervous system. Some of the major causes of the this disease is abnormal growth of body part such as, legs, arms, head, neck, etc.…
One of the rarest diseases in infants in Torticollis. Torticollis affects less than 200,000 people in the US population (both adults and infants) and affects both girls and boys equally. Infant torticollis Latin for “Twisted neck” can be an upsetting medical problem for both the parent and infant. When in utero, an infant might be affected by torticollis due to the position it is in the womb, or during a difficult childbirth, resulting in problems relaxing, untwisting or turning of the neck/head. Although it may look painful, most babies do not feel pain with this disorder.…
Neurofibromatosis Neurofibromatosis it a disease that effects the brain, spinal cord, nerves, and skin. Tumors grow under the skin or on the body’s nerves. NF is inherited from parent or from product gene mutations. The symptoms start with light brown spots on the skin another thing to look for would be bumps under skin.…
TS is an autosomal dominant disorder. An autosomal disorder “is one that occurs because of an abnormal gene on a chromosome that is not a sex-linked chromosome” and since there is only one abnormal gene, there is “about a 50 percent chance of passing the abnormal gene to their offspring” (healthofchildren.com). “Genetic studies have indicated that TS…
How would you feel if you were judged by how your face looks? August Pullman from Wonder, by R.J. Palacio, knows the feeling too well. He has Treacher Collins syndrome, which makes his face look different than others. This smart young boy is just starting regular school, before he was homeschooled due to his many operations. This persister wins an award for his persistence.…
The cause of this condition is not known. What increases the risk?…
In this day and age, it is possible to prevent deadly diseases that a person is predisposed to before they are even born. This process is called preimplantation genetic diagnosis. Preimplantation genetic diagnosis (PGD) is a screening test used to determine if genetic or chromosomal abnormalities are present in an embryo created through in-vitro fertilization. In-vitro fertilization literally means fertilization “in glass,” but in actuality, simply occurs in laboratory receptacles. This combined process, developed in the early 1990s, originally intended to help families at high risks for sex-linked diseases or with a history of miscarriages.…
Testing is favorable for expecting parents because it can help them prepare for the lifestyle that their child may have and it will give them time to think if they are ready to parent a child with a disorder (“Women’s Health Care Physicians”). As reported by Claudia, “[pertaining to the tests] First, whether to have children who in later life may develop the highly penetrant and dominantly inherited neurodegenerative disorder. Second, whether it is justifiable to have children—given that uncertainty arises about at-risk parents’ ability to sustain a parenting role.” There are many ways that people may interpret the test. Some expecting parents may begin to think about abortion and some many begin preparing for the expenses of their child.…
BIOLOGYOF TARO LEAF BLIGHT (Phytophthora colocasiae Racib) - A REVIEW ABSTRACT Taro is a tropical tuber crop highly valued in developing countries. It is mostly susceptible to Phytophthora colocasiae, a leaf blight disease (TLB) causing a 25%-50% loss in yield. The pathogen results not only in reduction in vigor, quality and yield but also constitute a barrier to international exchange of germplasm. The warm, humid days, cool and wet nights of the tropics are ideal for reproduction and spread of the disease.…