Huntington’s disease (HD) is an inherited disorder that causes degeneration of neurons in regions of the brain that control motor functions and cognition (Ghosh, 2015). The disease was formally described for the first time in 1872 by George Huntington. In his essay, “On Chorea”, Huntington incorporated the medical records of the patients treated previously by his father and grandfather. He noted the hereditary transmission of chorea, its gradual onset and tendency of affected patients to insanity and suicide. Since the original discovery the name has changed from Huntington’s chorea to Huntington’s disease to acknowledge the multiple non-motor symptoms faced by patients (Rüb, 2015). The clinical features that Huntington observed remain true …show more content…
Dystonia is associated with slower movements caused by increased muscle tone which lead to abnormal postures such as tilting of the neck or arching of the back. The cause of dystonia is not known; though, researchers believe that is a result of a damaged basal ganglia or other brain region responsible for movement. Its association with HD can be linked to the fact that many other disorders common to HD also involve a damaged basal ganglia, a region of the forebrain crucial to the function of motor control (Dystonias, 2016). Furthermore, the gait of the patient is affected by HD. Their gait becomes ataxic, or uncoordinated and staggered, leading to falls. Patients may consequently require a wheelchair to mobilize safely and require constant assistance with daily activities (Ghosh, …show more content…
Numerous specialists are involved in the management of the disease, including neurologists, psychiatrists, physiotherapists, occupational therapists, dieticians, and many others (McCusker, 2016). Furthermore, special HD clinics have been developed to help consolidate the many different approaches of managing the condition and able to co-ordinate research studies if the patient is willing. For specific treatment of movement disorders associated with HD the first choice is tetrabenazine, a dopamine depleting agent. Although it does not completely eliminate excessive movements, it is shown to reduce choreic movements. Unfortunately, the agent has also been shown to trigger psychiatric symptoms such as depression, which is already a common symptom in HD cases. Among psychiatric features, depression and suicidal thoughts are the most relevant and can be treated. Most HD patients respond well to standard antidepressants such as selective serotonin reuptake inhibitors (SSRIs) to treat depressing thoughts and
Physiological Basis of disease: DMD is the commonest and most serious form of the dystrophies. The gene responsible for dystrophin which, when absent, causes DMD. Amount of dystrophin correlates with the severity of the disease (i.e., the less dystrophin present, the more severe the phenotype). Since the gene is on the X chromosome, it primarily affects males, and females who are carriers have milder symptoms ( www.nlm.nih.gov/medlineplus/ency/article/000705.htm).
Huntington’s disease is of great concern because it is a genetic disease that affects many people worldwide. Huntington’s is described by Wider and Luthi-Carter (2006) as the most prevalent inherited neurodegenerative disorder in humans, affecting between two to eight per 100,000 inhabitants of Western countries. Huntington’s also has a slow onset with an average age of onset around 40 (Wider & Luthi-Carter, 2006). Wider and Luthi-Carter (2006) note the cause of this disease to be a mutation in the huntingtin gene, which can be characterized by distinct symptoms. Chorea, from the Greek “to dance”, is the main distinguishing feature of this mutation and is described by Wider and Luthi-Carter (2006) as rapid involuntary movements that manifest as eyelid elevation, head bobbing, facial grimacing, and jerking of the limbs. Chorea is also noticeable in the way one walks, making an individual move in a zigzag pattern and appear to be thrown off balance by involuntary movements (Wider & Luthi-Carter, 2006). The disease duration is between ten and thirty years and is often first noticed in the early stages by symptoms including attention disorders, personality changes, and alterations in motor control (Wider & Luthi-Carter, 2006).
Many people, like myself, after watching an episode of “The Michael Jay Fox Show,” started to be come curious as to what exactly this disease is. You ask yourself; What is this disease? What causes it? Can it be passed down from generation to generation? Is there a treatment? What would your life be like suffering from this? Through my research on Parkinson’s disease, I am determined to answer these questions. I hope to have a better understanding on this disease, and how it affects the lives of patients that I might see in a hospital.
Hypokinetic Dysarthria is a motor speech disorder that is often associated with Parkinson’s disease (PD). It can occur when there is interference in the basal ganglia control circuit. These disruptions can include “degenerative, vascular, traumatic, infectious, inflammatory, neoplastic, and toxic-metabolic diseases (Duffy, 2013, p. 176).” Damage to the basal ganglia control circuit results in reduced range of motion as well as the inability to inhibit involuntary movements. Hypokinetic dysarthria is most commonly caused by PD; a progressive, neurogenic disease that is characterized by tremor, rigidity, slowness of movement, and incoordination. Eighty-seven percent of hypokinetic dysarthria cases are associated with degenerative disease (Duffy, 2013).
People who have been diagnosed with this lifelong disease have either started to see the early signs and symptoms or have yet to recognize them. The negative impact that fatigue, loss of muscle strength and in-coordination has on the patients with Parkinson’s disease can be improved with a well-balanced exercise regimen. The three most common physical symptoms the patient will experience are tremors, rigidity, and bradykinesia. “Tremors while at rest are the most common initial symptom and are present in around 70 percent of cases at disease onset. It often presents as a pill rolli...
Goldmann, David R., and David A. Horowitz. American College of Physicians Home Medical Guide to Parkinson's Disease. New York: Dorling Kindersley Pub., 2000. Print.
Huntington’s disease (HD) is a progressive autosomal dominant neurodegenerative genetic disorder. HD was originally named Huntington’s chorea after Dr.George Huntington, an American physician who first gave a detailed note on the symptoms and course of the disease in 1872.Recently the name has been changed to Huntington’s disease to emphasize the fact that chorea is not the only important manifestation of the disease but several non-motor symptoms are also associated with this disease.[1]
Parkinson disease (PD), also referred to as Parkinson’s disease and paralysis agitans, is a progressive neurodegenerative disease that is the third most common neurologic disorder of older adults. It is a debilitating disease affecting motor ability and is characterized by four cardinal symptoms: tremor rigidity, bradykinesia or kinesis (slow movement/no movement), and postural instability. Most people have primary, or idiopathic, disease. A few patients have secondary parkinsonian symptoms from conditions such as brain tumors and certain anti-psychotic drugs.
The knowledge of mental illness was very small. Doctors did not understand how to diagnosis or treat mental disorders. They did not understand how the brain functioned and what to expect from people in certain situations. Many symptoms of physical illness today were considered mental illness in the eighteenth century. The constant shaking due to Parkinson’s disease was misinterpreted as a mental condition and treated as such4. These patients were placed into...
Parkinson’s disease is a chronic, progressive neurodegenerative disorder characterised by resting tremor, slowed movements, rigidity and postural instability (Casey G, 2013). It is the second most common neurodegenerative disorder after Alzheimer’s (Martin and Mills, 2012). There is a great variability in reported incidence rates, probably due to difference in diagnostic criteria and case ascertainment, with reported rates in Australia and in Western countries ranging from 8.6 to 19.0 per 100,000 population (J Macphee and D Stewart, 2012). The two main brain structures affected by Parkinson’s are the substantia nigra pars compacta, which is located in the midbrain and other parts of the basal ganglia, w...
The cause of this is caused by a defect on chromosome 4. This gene is in control for building proteins called huntingtin. Chromosome is a construction of nucleic acids and protein. It brings genetic information in the form of genes. The defect on the gene defines that specific proteins are required to make brain substances that can’t be prepared in the brain normally. This is also the result to the harm and loss of brain cells and some portions of the brain. Also there a collection of chemical called dopamine. This also causes movement problems. This damage this leads to the symptoms to the disorder known as Huntington’s disease. (Patient.Co.Uk, 2011).
716). Characteristic features of Parkinson's disease include “motor impairment (bradykinesia, rigidity, tremor, gait dysfunction, and postural instability), cognitive impairment (frontal lobe executive dysfunction), and mood disorders” (p. 716). Normally, motor performance depends on the interaction between automatic (unconscious) and volitional (cognitive) control of movement, however those with Parkinson's disease, experience an “early and preferential loss of dopamine in the caudal regions of the basal ganglia (dorsal regions in rodents), which leads to diminished automatic and increased cognitive control of movements that include frontal lobe circuitry” (p. 716). Consequently, those with Parkinson’s disease must sustain a larger cognitive load to execute either motor or cognitive tasks, such as working memory. In the past decade, increasing evidence has accrued for the role of exercise in the improvement of motor performance, which may help both the cognitive and automatic control of movement. Thus, exercise interventions can help those with Parkinson’s disease incorporate goal-based motor skill training, which then helps in engaging circuitry important in motor learning. Individuals with Parkinson's disease become cognitively engaged with the practice and acquiring of movements and skills that were formerly automatic and unconscious. In addition, aerobic exercise is also observed as important for improvement of blood flow and assistance of neuroplasticity in the elderly, which may also play a role in the improvement of behavioral function in those with Parkinson's disease. Petzinger et al. additionally states that exercise also uses goal-based training and aerobic activity which can improve “both cognitive and automatic
"Secondary Parkinsonism: MedlinePlus Medical Encyclopedia." U.S National Library of Medicine. U.S. National Library of Medicine, n.d. Web. 11 May 2014.
Since the gene for HD is dominant, there is a 50% chance of a sufferer's
Dementia is an organic brain syndrome which results in global cognitive impairments. Dementia can occur as a result of a variety of neurological diseases. Some of the more well known dementing diseases include Alzheimer's disease (AD), multi-infarct dementia (MID), and Huntington's disease (HD). Throughout this essay the emphasis will be placed on AD (also known as dementia of the Alzheimer's type, and primary degenerative dementia), because statistically it is the most significant dementing disease occurring in over 50% of demented patients (see epidemiology).