Huntington's disease - Research Paper Example

? Huntington’s disease Table of Contents Huntington’s disease 3 The Disease 3 Signs and Symptoms of the adult-onset HD 4 Early signsand symptoms 5 HD progressing signs and symptoms 5 Causes of HD 7 Inheritance of HD 7 Solutions 9 Medication 9 Therapy 10 Recommendation 10 Conclusion 11 Huntington’s disease Huntington’s disease (HD) is a neurological, incurable disorder of the central nervous system. The genes that result to the disorder are dominantly hereditary. The disease results to progressive degeneration of nerve cells in the brain, especially in the cerebral cortex and the basal ganglia regions. Ultimately, the disease may lead to psychiatric, cognitive, movement, and planning disorders, as well as the individual’s general functional abilities. Developed stages of the disease erode a person’s walking, reasoning, talking, and thinking ability such that they rely entirely on others for care. It is estimated that there are about fifteen thousand people living with the disease and another one hundred and fifty thousand having a fifty percent risk of developing the disorder (Folstein, 2004). Prior to the name Huntington Disease, the disorder was famous as Huntington Chorea, a name derived from the involuntary and jerking movements caused by the condition. This paper seeks to present information to a recently diagnosed wife, including the signs and symptoms of the disease in the early and late stages. It also suggests some practices to manage the sign and symptoms, as well as ways preventing the onward transmission of the disease to her children. The Disease Patients with HD should understand that it is not their fault that they have the disease, nor are they alone. The condition is not a cause-effect type of disease. It occurs naturally, affecting males and females equally, and appearing between the age of 30 and 50. However, a rare type of the disease occurs below twenty years, known as Juvenile Huntington’s disease. Huntington Society of America estimates that at least one in ten thousand Americans has the disease, roughly totaling to about fifteen thousand Americans. Another one hundred and fifty thousand Americans have fifty percent risks of developing the disease, as well as thousands of others that carry a certain degree of risk (HDSA, 2008). The United Kingdom department of health states that there are about six thousand cases of the disease in the region. Research shows that the prevalence of the disease depends on ethnic ancestry. The research reports indicate that Africans and Asians have one in a millionth person chance of inheriting the disease, while Caucasians chance of inheritance is about seventy to one hundred times higher. HD occurs in two distinct types categorized based on the time of occurrence of signs and symptoms. The two types are early-onset (Juvenile) HD and the common adult-onset HD, with the Juvenile HD being more severe (Lawrence, 2009). Signs and Symptoms of the adult-onset HD Signs and symptoms of adult-onset HD vary from patient to patient. However, most individuals often deny the occurrence of signs and symptoms of the disease, or take time to come into agreement with the diagnosis result. It is advisable to visit a physician or health specialist as subtle early signs may assist doctors to determine when the disease will fully develop. Adult-onset HD signs and symptoms are profound between 35 and 45 years, and become worse in the following ten or twenty years before the ultimate death of the patient (WebMD, 2011). In most cases, the patient develops depression followed by problems in motoring skills. At one point or the other, a patient may attribute these signs and symptoms to other causes, or ignore them altogether. It is important to understand the signs and symptoms of the disease to avoid any chances of contradictions. Early signs and symptoms The early stages of HD may have a great impact on the relationship between patients and their friends and family relatives who do not understand the disease, hence shocking, demoralizing, and distressing them. A patient considered as warm and loving in the past may display temper outbursts, resulting to confusion and fear on the other parties. It is important to make close friends and relatives understand the impacts of the disease on an individual’s personality. Some of the early signs and symptoms include clumsiness, stumbling, slight uncontrollable movements, depression, concentration problems, lack of focus, mood swings, aggression, antisocial behaviors, lapses in short-term memory, and signs indicating lack of emotion (Lawrence, 2009). A patient aware of her HD condition may become overly concerned on some signs that resemble these signs. However, it is important to note that dropping something, forgetting a person’s name, sudden anger or stumbling are normal occurrences in the day-to-day life, thus there is no need for raising eyebrows to the level of effect of HD. Nonetheless, it is advisable to seek assistance from a physician over such concerns. HD progressing signs and symptoms A HD patient needs to understand that the signs and symptoms become severe as the disease progresses. Some of the physical changes include difficulty in speech, a problem with expressing thoughts into words and slurring. Weight loss is also common, resulting in the patient becoming weak with time. HD patients maintain a generally good appetite, but the muscles in their diaphragm and mouth may fail, making the feeding experience messy, frustrating, and cumbersome. This will worsen as the coordination of the body deteriorates (Folstein, 2004). Gradually, swallowing becomes difficult with choking on drinks and food becoming more common. Choking often occur when the drink has as light taste, like water, which progresses to become a major issue in the later stages. Other physical changes incorporate uncontrollable and involuntary movements like jerking in parts of the face and head, uncontrollable facial movements, flickering of the body, arms, legs, and stumbling and lurching effects as these changes move from one area of the body to another. As the disease progresses further, the uncontrollable movements become common and intense, but eventually lose pace as the muscles become rigid with time (WebMD, 2011). Emotional changes alternate sporadically at times. Patients may experience emotions of anger, aggression, frustration, apathy, moodiness, stubbornness, excitement, depression, antisocial behavior, and even apparent lack of emotion. Cognitive changes also occur, including disorientation, loss of organizational skills and initiative, multitasking difficulties, and problems on focusing. Some HD patients and care providers say that psychological changes have greater impacts than physical changes. Patients experience frustration of not being able to carry out some tasks that they used to do prior to the disease, despite the fact that the physical changes are a result of the disease. The extreme stages of the disease will require round-the-clock care because the patient will not be able to walk or talk, though they will be overly aware of the presence and the conversation of friends and relatives. In most cases, HD patients do not die from the disease itself, but rather from complications of the disease, like choking, pneumonia, or other infections. The weight loss impact of the disease may result to worse symptoms, like weakening of the immune system of the patient, rendering the patient more vulnerable to opportunistic infections and complications. Thus, it is important for patients to adjust the food intake in order to ensure that it is adequate. The inheritance dominance of HD implies that a child of a parent diagnosed with the disease has a 50% risk of inheriting the condition (HDSA, 2008). The inheritance of the defected HD gene progresses to several generations. Causes of HD HD is a genetic defect in the deoxyribonucleic acid (DNA). The genes are the coded instructions that make living things, like animals, humans, bacteria, etc. Humans have 23 pairs of chromosomes, summing up to 46 (Folstein, 2004). The defective gene in chromosome number 4 causes HD. The normal copy of this gene produces huntingtin, a form of protein. The faulty gene produces a larger form of huntingtin because it is larger than it is supposed to be. This is because the defective gene causes the CAG repeat to replicate itself more than the optimum level. Under normal circumstances, the CAG repeat replicates between 10 to 28 times, but the HD condition makes it replicate 36 to 120 times (Lawrence, 2009). A number of the human brain cells are sensitive to the huntingtin produced by the defective gene, as it downplays their functions and destroys them. The reason behind this phenomenon is still a mystery, but scientists from John Hopkins have argued that they understand why people with HD have cells that accumulate a faulty protein all over the body, but these proteins kill only the brain cells that assist in controlling movements. According to them, it is because part of the brain that controls body movements contains a tiny protein called Rhes(Lemiere, 2004). Inheritance of HD HD patients need to understand the inheritance methodology of the disease. It all begins and ends with genes and the DNA. DNA, a molecule existing as a spiral ladder, makes up genes. Each strand of DNA has two paired chemicals called bases, which include cytosine (C), adenine (A), guanine, (G), and thymine (T). These bases pair with one another, and join other pairs to form coded messages that dictate the characteristics and traits of a person. Therefore, genes exist as strands of paired bases in different combinations. Humans have about 30,000 genes (HDSA, 2008). Genes may be recessive or dominant. A dominant gene requires only a single chromosome to produce its effect, while a recessive gene needs a pair of chromosome copies to produce the trait. HD is a dominant disorder, thus, requires only a copy of the faulty gene to develop. An individual with HD has a copy of the faulty gene and a copy of the good gene. The child who inherits the good gene survives the risk of developing HD, but the child who inherits the faulty gene will. However, a child has a 50% probability of inheriting the faulty copy of the gene. Additionally, the children of the child who inherits a copy of the faulty gene still face a 50% risk of inheriting the gene (Lemiere, 2004). The concept of inheritance has more impact than meets the eye, as the number of repeats down a subsequent generation tends to increase. Thus, a child possessing a large number of repeats has a higher chance of developing the symptoms at an early age. Unfortunately, the disease is an autosomal dominant disorder, which means that only one copy of the faulty gene from either the father or the mother is enough to produce the disease. Among all the cases of HD recorded, only three percent of the patients lacked history of the condition in their ancestral lineage. Scientists explain these scenarios by arguing that some of these people were adopted and, thus, never knew whether their biological parents had the condition. Others may have had a parent with a defective gene who died at an early age from other causes. Other suggestions include new errors in the gene, or a mutation during sperm development. Research shows that there were traces of a high-level of a type of inflammation causing protein, IL-6, in the blood stream of individuals up to ten years before they develop HD nervous system symptoms (Lawrence, 2009). The traditionally held assumption is that huntingtin deposits lure an overactive immune response. However, the immune cells that produce IL-6 also produce huntingtin, and this might enable the mutant huntingtin to set these cells on attack mode against the body. This means that early interventions of suppressing IL-6 production may prevent brain destruction. Solutions Medication Presently, there is no cure for HD. However, patients suffering from the condition may access management practices that will reduce the impacts of the signs and symptoms of the disorder. It is important for patients to note that these management practices do not slow down the disease nor reverse its progress. Management medication includes the recently approved administration of Tetrabenazine (Xenazine) for the treatment of involuntary, jerky movements resulting from HD. The drug has several side effects, including dizziness, nausea, drowsiness, and restlessness. The drug is particularly helpful to patients with depression and suicidal thoughts (HDSA, 2008). Other drugs include clonazepan (Klonopin), haloperidol, and clozapine (Clorazil) for controlling hallucinations, violent outbursts, and movements. The drugs cause stiffness, rigidity, and sedation. There is also fluoxetine (Prozac), nortriptyline (Pamelor), and sertraline (Zolosoft) for preventing obsessive-compulsive disorders and depression. Prescription of lithium (Lithobid) is common in the occurrence of extreme mood swings and emotion. Therapy Patients may undergo speech therapy to enable them to communicate in a more effective way through strategic uttering of phrases and words. Physical therapy may achieve better muscle flexibility and strength, which will assist the patient in balancing and reducing the risks of stumbling and falling. Occupational therapy will improve the patient’s concentration, mainly through devising strategies to address memory and concentration problems (Lemiere, 2004). This will also make home a safer place for the individual. In addition, there have been speculations on the effect of strengthening the density of antioxidants (potential therapy) to halt the progression of HD. The other viable option is to have a caregiver around the patient. Care giving of HD patients is demanding and time consuming. It requires an individual with physical and mental capabilities. If the family can afford a caregiver, it would be helpful to share the physical care of the patient and the household duties. It is also important to inquire with the doctor and local health agencies about nursing assistance, assistance programs, and support groups among other services. Recommendation It is advisable for adult patients diagnosed with the condition to seek genetic counseling services. An adult with the faulty gene requires to get expert advice on preventing the onwards transmission of the disease to their consequent generations. With emphasis on a woman in a marriage, services like In-Vitro Treatment (IVT) may be of great importance. The IVT form of treatment incorporates the laboratory genetic testing of the embryo for the faulty gene (Lawrence, 2009). If the faulty gene is present, a good gene replaces it, and then the embryo is implanted into the woman. This procedure reduces the overall chances of inheritance of the disease in the immediate generation and others that follow. Additionally, patients should also seek different forms of therapy, like speech therapy, physical therapy, operation therapy, and occupational therapy. The advanced stages of the disease will require the patient to use medication remedies that will reduce mood swings, depression, and uncontrollable movements. Conclusion A patient suffering from HD should not be paranoid concerning the disease. Huntington’s disease is a genetic condition that results in disability and worsens as it progresses through the stages of development. The disease is hereditary and is common in many countries and causing threats in the manner in which it is spreading. The disease occurs naturally, and has a 50% chance of inheritance to subsequent generations (WebMD, 2011). The disease is incurable, and most deaths occur due to secondary causes like pneumonia or suicide. However, there are other forms of treatment, including medication and therapies, which manage the signs and symptoms of the disease. Again, scientists are continuing with their research and development on the treatment of the disease. 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. 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. Retrieved from: www.hdsa.org Retrieved from: www.webmd.com WebMD. (2011). Brain & Nervous System Health Center . WebMD , 1-2. Read More