Features Of Huntingtons Disease Treatment - Research Paper Example

? Huntington’s disease Huntington’s disease Introduction Huntington’s disease (HD) is a condition that is inherited from parents (WebMD, 2011). Currently, over 15,000 Americans live with Huntington’s disease, and at least 150,000 others are at 50 percent risk of developing this disease (WebMD, 2011). Until today, scientists and researchers have very little understanding about this disease. This disease causes progressive damage to brain cells in the cerebral cortex and basal ganglia (WebMD, 2011). These parts of the brain control planning, personality, movement and planning. This disease can develop at any age, however, it is most common between the ages of 30 to 50. HD was previously known as Huntington’s chorea. Chorea means jerky, involuntary movements. This paper provides a description of Huntington’s disease including its causes, symptoms, and treatment. Causes HD is caused by a genetic defect on chromosome 4. This disease causes part of DNA, known as a CAG repeat, to replicate itself more than it is supposed to (Lawrence, 2009). In normal conditions, this part of DNA section is repeated 10 to 28 times. However, in HD patients, it is repeated 36 to 120 times. Since this is a hereditary disease, the number of repeats tends to get bigger down the subsequent generations. Therefore, children having a larger number of repeats tend to develop symptoms of this disease at early ages. This condition affects basal ganglia that control balance and movement in human beings (WebMD, 2011). In the region of basal ganglia, HD mainly targets neurons of the striatum, especially those in the pallidum and caudate nuclei. There are two types of Huntington’s disease: adult-onset Huntington’s disease, which is the most common, and an early-onset form, which begins in childhood or adolescent stages of development (Lawrence, 2009). How HD is inherited HD is a disease that is passed from parents to children through misspelling or mutation in the normal gene, and it is found in every part of the world. A single abnormal gene can lead to the development of this disease. Genes are made up of deoxyribonucleic acid (DNA): which is a molecule that exists as spiral ladder (HDSA, 2008). Every strand of DNA is made up of two paired chemicals known as bases. These bases include adenine (A), thymine (T), cytosine (C) and guanine (G). Bases usually pair together, and combine with other pairs to form coded messages. Genes, therefore, exist as long strands of paired bases in various combinations. A normal human being has approximately 30,000 genes, which determine a person’s traits and characteristics (HDSA, 2008). The effect of genes on determining an individual’s characteristics depends on whether it is dominant or recessive. When a gene is dominant, only a single chromosome is needed to produce its effect, and when it is recessive, pair of chromosome copies is required to produce a characteristic or trait. HD is a dominant disorder that is caused by a copy of a defective gene, which is inherited from one parent (HDSA, 2008). The defective gene that produces HD is a sequence of DNA on the chromosome 4, which is made up of several base pairs that repeat themselves many times. A normal gene is usually composed of three DNA bases, made up of the sequence CAG. In HD patients, this sequence normally repeats itself several times, and the number of repeats becomes larger in the subsequent generations. Parents have two copies of chromosomes each, but they only donate one copy to each child (HDSA, 2008). A child born of HD parents has 50-50 chance of developing this disease. Any child, who does not inherit a copy of HD gene from parents, can never develop this condition, and he or she cannot pass it to the next generations. Children who inherit HD gene may not show symptoms of this disease in early ages, but later in their lives. It has also been shown that some people develop this condition even if there is no family history of HD. It is believed that this is caused by a new genetic mutation, a process that usually occurs during sperm development (Lemiere, 2004). Symptoms of Huntington’s disease HD symptoms are usually mild and assumed for a long time before it fully develops. Early symptoms include irritability, depression, clumsiness, mild tremor, mood changes, lack of concentration, and short-term memory problems (Lawrence, 2009). Symptoms of adult-onset HD are usually grouped into three main categories. Physical Symptoms Physical symptoms include involuntary movement of body, limbs and face. This condition is known as chorea, and it leads to the difficulty in swallowing, speaking and walking. Difficulty in swallowing also leads to loss of weight, and coordinating body movements become progressively worse as the disease progresses (WebMD, 2011). Other symptoms include unsteady gait, head turning to shift eye position, facial movements, and quick and sudden movements of the face, arms, legs and other parts of the body (WebMD, 2011). Emotional Symptoms Emotional symptoms are as a result of damaged brain cells. Patients may become frustrated, depressed, and unable to perform their duties sufficiently. Patients have mood swings, stubborn, anti-social, and more irritable (Lemiere, 2004). Behavioral Symptoms These include loss of initiative and drive. Patients appear lazy, and lack interest in life. They lack the ability to groom themselves, organize their surroundings, and have memory loss. In addition, personality of the patients becomes more centered and unmotivated (WebMD, 2011). Other symptoms include hallucinations, paranoia, restlessness, psychosis, loss of judgment, speech changes, loss of memory, confusion, personality, and behavioral disturbances. Symptoms of Juvenile Huntington’s disease Juvenile Huntington’s disease develops before the age of twenty. It is more severe than the adult-onset HD. Its symptoms are just like those of HD, however, involuntary movements are less likely, but muscular rigidity is more common. People develop this condition in their childhood and adolescent stages. Patients appear aggressive and irritable, and they begin to display inappropriate sexual or social behavior (WebMD, 2011). Solutions The cure for Huntington’s disease has not been established up to date, and doctors have no other option to stop this disease from spreading into subsequent generations. The only solution available is to slow down the symptoms from getting worse, and help patients to function normally (HDSA, 2008). The available medications are administered depending on the symptoms. Drugs like tetrabenazine and amantadine enhance the control of movements, Dopamine blockers reduce abnormal movements and behaviors, and co-enzymes Q10 also slow down the development of this disease, however, it is not effective enough (HDSA, 2008). Families and caretakers of the patients should carefully examine the resulting symptoms and treat them accordingly. Huntington’s disease patients are regularly depressed, and this may make them commit suicide. Therefore, they need 24-hour care, close supervision and assistance (HDSA, 2008). Recommendations Genetic counseling is recommendable for family members who have had a history of Huntington’s disease. Parents who carry this defective gene are also advised to seek genetic counseling, so as to find ways of limiting its spread to their children (Lemiere, 2004). It is also advisable for people carrying the gene for Huntington’s disease to go for vitro fertilization. This is a treatment where the parent’s embryos are tested for Huntington’s disease gene, and the genes that do not carry the defective genes are replaced in the mother’s womb (Lemiere, 2004). Replacement of the defective Huntington’s disease gene with the normal genes in the embryo can reduce the spread of this disease into future generations. Scientists and medical researchers should also double their efforts to develop and improve drugs that will retard the development of this disease in both children and adults. Some of the drugs that have been developed include nutritional supplement, co-enzyme Q10, and minocycline, which is an antibiotic drug. Clinical researches such as the use of stem cells- specialized group of cells which are capable of producing other cells- will help in developing new brain cells, which can be transplanted into the patient’s brain so as to enhance their balance, thinking, swallowing and other outlooks (HDSA, 2008). Medical researchers and other scientists are also promising to introduce RNA interference (RNAi), which is capable of stopping the functions of the targeted cells in the body. These researches, medicine, and therapy will lead to an effective treatment of Huntington’s disease in the future. Conclusion Huntington’s disease is a condition that leads to disability, which gets worse as it progresses. It is a family disease that is common in most countries, and the rate at which it is spreading is also worrying, since there is no absolute treatment for this disease. Huntington’s disease patients usually die between the ages of 15 and 20 years. The cause of this disease is natural, and it spreads from parents to their children. Most of the patients usually die due to infection; however, suicide is also common. It is also necessary to realize that this disease affects people in different ways. The severity of the disease also depends on the number of CAG repeats in a DNA. This means that parents, who usually have less number of repeats, show mild symptoms, which may later become more severe in their later lives. Children usually have a large number of repeats, and this means that they are severely affected at early stages of their lives. Until today, absolute treatment of this disease has not been found, however, there are treatments that help in managing the symptoms. Treatment of this disease also depends on the nature of the symptoms. It is, therefore, necessary for families and care takers of Huntington’s disease patients to give them 24-care, close supervision and assistance. New clinical studies on managing and treating this disease will be of significant help to future patients. References Folstein S. E. (2004). Huntington's disease: a disorder of families. California: Johns Hopkins University Press. HDSA. (2008). Treatment Guidelines for Huntington's: Who Needs Them? Huntington's Disease Society of America , 1-2. Retrieved from: www.hdsa.org Lawrence D. M. (2009). Huntington's Disease. New York: Infobase Publishing. Lemiere J. (2004). Huntington's Disease: Progression of Cognitive Changes in Patients & Asymptomatic Mutation Carriers. London: Leuven University Press. WebMD. (2011). Brain & Nervous System Health Center . WebMD , 1-2. Retrieved from: www.webmd.com Read More