Huntington’s Disease
Symptoms and Identification of the Huntington’s disease
In most cases, the Huntington’s disease symptoms are noticeable when a person attains 35 and 45 years. In other situations, the disease symptoms can start at any age depending on the person. To some people, the disease begins at infancy while some it starts at old age. Depending on the age at which it attacks a person, the disease has various symptoms to a person. During the early ages, there is usually the subtle change regarding the personality of a person. The physical skills and cognition levels of a person change. Physical symptoms are the first signs to seen in a person. The psychiatric and cognitive symptoms are never severe to a person. In this case, they are hard to be noticed during its early stages. People with Huntington’s disease usually exhibit same physical symptoms (Bates 47). However, these changes during the onset, progress and the extension levels of the psychiatric and cognitive symptoms depending an individual.
The most distinct physical symptom is randomness, jerkiness, and the uncontrollable movement of a person. The uncontrollable nature is chorea. A person’s general restlessness, uncompleted motions, saccadic eye movements that are slow, and finally, lack of coordination can exhibit the Chorea symptoms. These are the minor motor abnormalities of the condition and usually, they precede various obvious motor dysfunction signs in a spurn of three years. As the Huntington’s disease progresses, other common symptoms a person develops include; rigidity, abnormal postures or the writhing motions. The psychomotor functions of a person become impaired in that, when a person performs a task which requires muscle use is affected (Bates 65). The usual consequences of these are; abnormal facial expressions, chewing difficulties, physical instability, difficulties in eating, speaking problems, and sleeping disturbances. Due to eating difficulties, a person may end up malnourished.
A person’s cognitive abilities are usually impaired progressively. The executive functions of a person are the most affected areas. Some of the executive functions that are affected include cognitive flexibility, planning, rule acquisition, and abstract thinking. In some cases, a person inhibits inappropriate actions. As the disorder progresses, a person’s memory will tend to deficit. Some of the impairments regarding the memory include short-term memory, long-term memory problems, procedural and working memory. The cognitive difficulties worsen as the disease progresses. This may lead to dementia with the results causing dementia syndrome (Bates 94).
Prevention
Management and prevention of the Huntington’s disease are unknown. However, there are treatments, which are available to help the reduction of the disease severity. Many of these treatments, there have been comprehensive clinical trials and tests to confirm the prevention effectiveness during the treatment of symptoms of the Huntington’s disease are usually incomplete. As the Huntington’s disease progresses, the need to care for a patient usually decline. Generally, therapies help in the rehabilitation of the disorder and the cognitive symptoms of the Huntington’s disease (Lawrence 97). There is usefulness in physical therapy, speech therapy and the occupational therapy. Tetrabenazine is the approved chorea treatment in the United States. Other drugs, which help in the reduction of chorea, are benzodiazepines and neuroleptics. There are also various compounds, which are still under investigation to determine if they can prevent the disease. These include the remacemide or the amantadine. In juvenile situations, the Hypokinesia can be used. The Hypokinesia are usually treated with antiparkinsonian drugs (Lawrence 107).
Test
A doctor bases his diagnosis by asking a number of questions and judging by the response makes his diagnosis. A doctor conducts tests by reviewing a medical history of one’s family. Other tests include neurological examinations and psychiatric examinations too. In a neurological examination, the neurological doctor will conduct a series of tests. He will primarily concentrate on reflexes, muscle strength, and tone, hearing ability and coordination, balance and mental status. The doctor will use these tests to determine whether the patient is suffering from the Huntington disease (Quarell 2008). Other test conducted gives the doctor a full review of the situation and judge whether the patient has the disease.
A psychiatric evaluation of a patient is mandatory for the general assessment of the patient. A psychiatric doctor conducts an examination based on a number of things. The doctor examines a person’s emotional state, the patterns of behavior that the person exhibits. Coping skills reviewed assess whether the person is attentive to the surrounding. Signs of disorder in thinking will enable the psychiatrist to evaluate the situation and judge whether the patient is suffering from the Huntington disease. Substance abuse causes the disease. According to Quarell (2008), a psychiatrist will ensure that he gets a correct statement from the patient as to whether he abuses drugs. Hard drugs affect a person’s mental state and coordination of reflexes.
Brain imaging tests done assesses the structural changes in some specific parts of the brain. These tests are crucial as it rules out other medical conditions that cause the same symptoms as the Huntington disease. A doctor conducts MRI to produce a clear image of the brain in 3-D format. A CT scan also produces the same results as the MRI. A doctor also conducts an electroencephalogram (EEG) to determine the possibility of the disease occurring.
Treatment
Huntington disease has no cure. Doctors and medical research professionals have failed to find a way to stop the disease from getting worse. Available treatment for the disease aims at slowing the symptoms down. This treatment aims at helping a patient to function as a functional member of the society. It aims at making the patient lead a comfortable life for as long as he can. Symptoms that a patient has will determine the type of medication prescribed. Abnormal behaviors exhibited and abnormal movements reduced by Dopamine blockers (Gary 2012). Drugs such as amantadine and tetrabenazine control movements of a patient. Some medical researchers argue that a certain co-enzyme Q10 slows down the disease.
Care
A person suffering from Huntington disease will require the assistance of others to help with his tasks. It is helpful for a Huntington disease patient to be taken in a care home where he will receive care through out. Care homes have professionals that meet the needs of these patients. Health care professionals at these care homes help the patients suffering from the disease help patients with therapy. Speech therapy will improve the communication skills where a patient learns alternative methods to communicate with others. Another benefit of language and speech therapy helps a patient with difficulties in swallowing (Gary 2012).
Some patients do not consider going to care homes to receive treatment. It is mandatory for a patient to have his house restructured to adapt to his needs. Structuring aims at redesigning the shower, bed and the bath to make it easier for the patient to maneuver his way about.
Effects of Huntington’s disease
Huntington’s disease, which is hereditary, remains a fatally degenerative disease that results in the destruction of the nerve cells found in the brain. Commonly, the manifestation of the disease occurs during the middle ages. Whereas there are cures that encompass the capability of assuaging some of the symptoms of Huntington’s disease, the advancement of the disease is unstoppable and incurable. As already aforementioned, the disease causes stem from mutations on the fourth chromosomes. There is a 50 percent chance of developing the disease by persons who have at least one parent suffering from the ailment. According to Medicine Plus, all persons with the faulty gene develop Huntington’s disease. Parents suffering from the condition can only prevent the transmission of their genes to their kids through genetic counseling. The disease affects numerous different elements of an individual’s life, ranging from the mental state, movement, and behavior. Astonishingly, Huntington’s disease results in comparable symptoms to Parkinson’s disease including abnormal speech transformations and uncontrolled movements of the body.
Overall, the symptoms of the Huntington’s disease commence between the ages 30-5- years. Prior to diagnosis, individuals commonly encompass the symptoms for about ten years owing to the mild nature of the symptoms thus easily ignorable. Failure to diagnose the disease even when the symptoms are current can be a worrisome period for individuals suffering from the disease. This is because they probably do not comprehend whatever is happening to them, alongside their grounds for happening. Some notable transformations include strained relationships characterized by unanticipated angry outbursts associated with the changes in mood.
Emotional Problems
NIND proclaims that members of the family possibly will notice changes in the mood as the foremost effects of the Huntington’s disease. Patients might become irritable, apathetic, angry, or passive. The emotional condition of Huntington’s disease patients is different from their ordinary personalities. According to the Mayo Clinic, it observes that depression usually comes about and may result in reported suicide cases for some patients. This is because the depression results in patients having a sense of hopelessness, sadness, and perhaps also social withdrawals and changes in sleep patterns.
Cognitive Changes
Huntington’s disease has the capacity of influencing the functionality of multiple cognitive. Patients may encompass problems with judgment or memory. For instance, NINDS observes that the patients suffering from Huntington’s disease suffer from decision-making problems. Patients may further encompass difficulties in recalling information, answering questions, and creating fresh memories. These cognitive setbacks may influence the capability of the patient in performing certain obligations such as managing money or driving. Patients also experience setbacks concentrating whenever working on tasks. The Mayo Clinic further observes that during the later phases of the disease, patients possibly will develop dementia that also influences cognitive functionality. In addition to memory, dementia results in social skills and language problems. In the final phase of dementia, Medicine Plus observes that patients’ memory about their family members fades.
Movement Problems
In the initial phase of Huntington’s disease, patients begin illustrating precursors of movement setback, such as balance and clumsiness problems, the balance and coordination setbacks deteriorate as the disease advances. Patients may further encompass uncontrolled facial movements including grimacing. Mayo Clinic observes that young patients suffering from Huntington’s disease may encompass comparable symptoms to Parkinson’s disease such as rigidity in the muscle, slowed movements, and tremors.
Personality Changes
Personality transformations are a distinguishing Huntington’s disease symptom. Forms of personality transformations differ, and typical manifestations include social withdrawals, impulsiveness, depression, apathy, and loss of interest among many others. The University of Utah’s department on Genetic Science Learning Center observes that medications on psychiatry can be useful in managing depression and anxiety. Both the anxiety and depression have a connection with Huntington’s disease.
Impaired Cognitive Function
Nerve cells loss in the brain emanating from Huntington’s disease results in the progressive loss of superior mental operations, also regarded as cognitive functions. Early on in the disease, mental demonstration happens, with an augmented level of effort needed to reflect through a task or process that was a routine before. Multitasking characteristically proves not possible. Deficits manifestation in the short period memory is as difficulty in comprehension, forgetfulness, and retention of fresh information. As noted by the NINDS, there is a difficulty in making decisions and poor judgment frequently happen. In the final phase of Huntington’s disease, advanced dementia typically happens. Loved ones frequently go unidentified and superior cognitive functions such as planning, abstraction, organizing, contemplation, and judgment regress to a fundamental level.
Speech Disturbances
The ASLHA elucidates that the capability for spoken communication increasingly deteriorates with Huntington’s disease. Muscular incoordination interrupts the physical fabrication of language. Cognitive disturbances influence the intellectual features of speech including word selections, capability to follow the discussion, and responsiveness. Difficulties understanding the written word further characteristically come about as Huntington’s disease advances.
Swallowing Difficulties
Diminishing chorea and coordination compromise the capability to swallow and chew food devoid of choking. Individuals in the final phase of Huntington’s disease experience difficulties in maintain food in their mouths during chewing. Trouble initiating swallowing further proves common. Swallowing is often incomplete, with liquid or food left in the mouth, which may result in choking owing to a decreased capacity to coordinate swallowing and breathing.
Work Cited
Bates, Gillian. Huntington’s Disease. Oxford [u.a.: Oxford Univ. Press, 2008. Print.
Lawrence, David M. Huntington’s Disease. New York: Chelsea House, 2009. Internet resource.
Quarrell, Oliver W. J. Huntington’s Disease. Oxford: OUP Oxford, 2008. Internet resource.
Gary L. Dunbar, et al. “Early Cognitive Dysfunction In The HD 51 CAG Transgenic Rat Model Of Huntington’s Disease.” Behavioral Neuroscience 126.3 (2012): 479-487. PsycARTICLES. Web. 30 Nov. 2012.
