Tay-SachsEssay Preview: Tay-SachsReport this essayThe genetic disorder I have looked at in this scientific statement is Tay-Sachs disease or TSD, a serious, inherited fatal brain disorder. The disease is named after Warren Tay, a British ophthalmologist who first described the disease in 1881 and a New York neurologist, Bernard Sachs; who first described the cellular changes and the genetic nature of the disease in 1887.
This rare hereditary disease is caused by a genetic mutation that leaves the body unable to produce an enzyme; a protein that speeds up the rate at which chemical reactions take place within the body. The enzyme is necessary for nerve cells to metabolise fat, (allow for chemical reactions to take place within the cell) . The enzyme involved in TSD is known as hexosaminidase A. its absence allows a lipid called GM2 ganglioside to build up in the brain, destroying the nerve cells.
The location of the gene HEXA that causes the genetic disorder is 15q23-q24. Tay-Sachs is an autosomal recessive disorder. My research indicates that a person must have two carriers as parents for the disease to occur. Carriers, people with only one gene for the disorder are physically unaffected due to it being recessive. When both parents are carriers, each child has a 25% or ј chance of obtaining the disease. If only one parent is a carrier, there is no chance that the child will get the disease, but there is a 50% chance that the child will be a carrier.
My extensive research has concluded that the symptoms of the disease are: Blindness Dementia Deafness Seizures ParalysisAll these symptoms appear during the first six months of life following the case studies data.The disease progresses rapidly, usually killing affected children by age three. As the damage to the nervous system progresses, an inability to swallow, difficulty in breathing and mental retardation develop. In late-onset TSD, which occurs in people who have a genetic mutation (A permanent change in the DNA sequence due to an insertion, deletion or an alteration) that is similar to that of TSD that occurs in young children. Some production of the missing enzyme
1) or deficiency of the enzyme (p>Ic(2)
1.1. As a result, there occurs a period of depression and suicidal ideation, a delay in speech, agitation and a decline in performance in mathematics. In later years, the person becomes more anxious, less intelligent and, although his symptoms decline, more likely to become schizophrenic.In late-onset TSD, individuals develop a new motor function such as a higher voice and a higher energy level. Some signs of tinnitus become more noticeable, though a lack of motor skills make them less likely to cause psychosis.
T-SD is a clinical condition. In the most severe form, it is a severe motor disability, resulting in convulsions of the upper legs or arms. In the milder form, it is a nervous depression. Some signs of depression include changes in behavior, difficulty with working, confusion, confusion, hallucinations, confusion, feeling of being out of control, difficulty in thinking without speech, feeling of dread, difficulty connecting, difficulty remembering, difficulty with seeing or talking without verbal, visual, tactile and eye movements. These symptoms may have a mental effect on others, such as an increase in anxiety, irritability, and depression.
Symptoms:T-SD consists of a lack of motor activity. If that’s the case, the symptoms can be confused, agitated, restless, depressed, restless, sleep deprivation (i.e., nightmares), confusion, fatigue, lethargy (dizziness on your breath); low mood, excessive irritability; irritability at nights; night sweats or sleep deprivation, and fatigue
Symptoms of T-SD are:Loss of motor function, increased motor activity; impaired mental processing; fatigue, dizziness; low energy or mental status during the day; changes in mood or focus; and increased difficulty with basic sensory skills and the ability to control impulses.Symptoms of T-SD are:Loss of motor function, increased motor activity; impaired mental processing; fatigue, dizziness; low energy or mental status during the day; changes in mood or focus; and increased difficulty with basic sensory skills and the ability to control impulses.
Fever, dizziness, and depression cause the person to feel like losing control of his or her body. The changes resulting from these changes can also lead to suicide attempts.
T-SD symptoms include:
loss of attention; confusion; loss of attention or concentration to one’s surroundings; or failure to follow directions adequately.The changes resulting from these changes can also lead to suicide attempts.
Pursuing a suicidal idea. The person that wants to pursue a suicidal thought should:
be aware of a person’s future expectations