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Running head: DIAGNOSING ALZHEIMER'S DISEASE, PARKINSON'S DISEASE, ALS, & HUNTINGTON'S DISEASE Diagnosing Alzheimer's Disease, Parkinson's Disease, ALS, & Huntington's Disease June 06, 2009 Diagnosing Alzheimer's Disease, Parkinson's Disease, ALS, & Huntington's Disease Introduction With the emergence of new technologies in medicine, treatment has become more effective. However, the amount of time required to identify the causes and symptoms of diseases remains a major challenge for modern medicine. The importance of this research paper cannot be underestimated, as the sooner effective treatment is started, the better the prognosis for patients. The negative effects of patients health and the mortality rate can be reduced significantly if appropriate treatment and the right medicine intake can be administered to patients. The research paper provides readers with a comprehensive overview of Alzheimer's disease, Parkinson's disease, ALS, and Huntington's disease, the diseases that are set to create one of the worlds largest socioeconomic healthcare burdens in the upcoming decades, together with a valuable information for early treatment to enhance clinical diagnosing and to facilitate readers to gain better insight into clinical phenomenology, diagnosing criteria, demography, and pharmacological or surgical treatment for these diseases. Alzheimer's Disease Clinical Phenomenology Patients suffering from Alzheimer's disease usually exhibit common symptoms, including disturbances in short-term memory, confusion, problems with spatial orientation (some patients report getting lost on the street) and attention.
Most patients report language difficulties and unexplained behavioral changes and mood swings (for example, going from happy to tears in minutes). As these symptoms are relatively mild, in most cases the patients often do not consider them important enough to ask for help or to consult with health professionals. The median age for Alzheimer's disease is 72 - 78 years (Karlawish & Clark, 2003). Basically, the patients also mention memory loss, having difficulties with performing familiar tasks (for example, might cook the meal but forget to serve or eat it), language problems (might forget some words or using wrong words), loss of initiative (might become passive), to mention a few. Diagnostic Criteria There is no single test able to diagnose Alzheimer's disease accurately, therefore, a number of laboratory measurements, tests and assessments are usually used to make a reliable diagnosis. Brain autopsy is considered to be one of the most reliable methods to diagnose Alzheimer's disease most definitely.
Physicians can diagnose Alzheimer's disease approximately 90 % of the time based on behavioral and mental symptoms, neuropsychological tests, physical examination and laboratory tests. The physician should examine a history of patients behavioral and mental symptoms, being guided by information provided by the patient and his or her family. If the most popular method of diagnosing based on stage reference is used, the symptoms will be identified as follows: the first stage (mid / early ; duration: 2 - 4 years) is characterized by patients frequent recent memory loss, repeated questions, problems with understanding and expressing language, depression, sudden personality changes, functional decline, etc (Desai & Grossberg, 2005). During the second stage (moderate / middle ; duration: 2 - 10 years) the persistent and pervasive memory loss severely affects patients life. Over 80 % of patients demonstrate behavioral and emotional problems, sleep disturbance, tremors, gait problems, etc (Nutt & Wooten, 2005). During the third, Severe/Late stage that lasts approximately 1 - 3 + years the patient demonstrates loss of recognition of familiar places and things, severe to total loss of verbal skills, problems with swallowing, with mood, sometimes hallucination, delirium, etc.
During this stage patients need total care and support. Basically, physician performs a set of physical examinations (e. g. , general physical analysis, urinalysis, blood tests) to facilitate identification of Alzheimer's disease. Sometimes patients can be administered electroencephalogram (EEG) for brain electrical activity measurements. Neuropsychological tests mostly depend on the patients symptoms and can include but not limited to a brief screening tool, e. g.
the Mini-Mental Status Examination (MMSE) (a set of tests of attention, memory, language, mathematical calculation, etc). Finally, more complicated brain imaging systems can be used to measure changes in patients brain structure or function for earlier diagnosing and treatment. Demography It should be mentioned that it is almost nothing known about the demographics of Alzheimer's disease. Yet, few facts can be taken into consideration. Women are at higher risk than men. Although it is still unknown whether women are more susceptible to Alzheimer's disease, most researchers agree that they are more likely to develop Alzheimer's disease as their life duration is significantly longer than that or men.
Low occupational attainment and lower education level are also among the risk factors. The researchers have found relation between increased risk of Alzheimer's disease and employment in jobs demanding lesser attention and lower education levels (Desai & Grossberg, 2005). Also, according to Alzheimer's Disease International, over 66 % of patients suffering from Alzheimer's disease live outside the developed countries. Of approximately 18 million patients, 12 million live in Latin America, India, China and other developing countries (Desai & Grossberg, 2005). Treatment (pharmacological or surgical) At the present moment, there is no cure for Alzheimer's disease. The physicians usually prescribe medications to improve symptoms accompanying Alzheimer's disease, addressing agitation, wandering, sleeplessness, depression and anxiety.
However, there are two major types of medications currently used to slow down the cognitive decline: cholinesterase inhibitors and Memantine (Namenda). Cholinesterase inhibitors include rivastigmine (Exelon), donepezil (Aricept), and galant amine (Razadyne). It should be, however, mentioned that they work only for 50 % of the patients. Memantine (Namenda) was the first medication officially approved for treatment of moderate and severe stages of Alzheimer's disease. This medication protects brain cells from damage caused by glutamate. Sometimes Memantine is used with cholinesterase inhibitor (Desai & Grossberg, 2005).
The Disease Proteins Misfolded proteins are considered a common mechanism in Alzheimer's disease and other neurodegenerative diseases. With the emergence of new video-imaging systems, the researchers became capable of observing proteins important in Alzheimer's disease travel in the slow lane. Understanding axonal transport is very important as it may lead to a new era in Alzheimer's disease treatment. Of particular importance is slow component-b (group of transported proteins), synuclein and tau, along with other proteins important for axonal growth and regeneration. Parkinson's Disease Clinical Phenomenology The median age of Parkinsons disease is 60 years, however, the number of young patients is consistently increasing. As early symptoms of Parkinsons disease are relatively difficult to identify, the patients rarely ask for clinical help.
Some patient report cramped handwriting, expressionless face, little shakiness that might make difficult to perform traditional movements and tasks, irritability and other symptoms. However, as the onset is gradual and slow, the symptoms might last a relatively long time before the patient notices that something is going wrong. Late symptoms, reported by patients, are more noticeable. Tremor (a rhythmic back and forth motion of the forefinger and thumb is reported very often) is the most serious symptom. Patients also report resistance to movement and rigidity; bradykinesia, impaired coordination and balance. Diagnostic Criteria The diagnosis of Parkinsons disease is mostly based on the presence of the core features of slowness and paucity of movement (bradykinesia and amnesia) and tremor when the limb is at rest or resistance to passive movement of the joints (rigidity), or both. (Nutt & Wooten, 2005) Similar to Alzheimer's disease, the diagnosis is based on physical examination and careful patients history taking.
There are no reliable imaging studies or laboratory tests that may confirm the diagnosis 100 %. Magnetic resonance imaging of the patients brain may be administered to some patients, especially the patients with prominent gait abnormalities. Demography Approximately 1 - 1. 5 million Americans suffer from Parkinsons disease. Parkinsons disease on average sets on in late middle age (60), and only less than 15 % of the patients are diagnosed with Parkinsons disease before the age of 50 (Clarke & Moore, 2005). There is no data concerning prevalence of the disease in men or women. African Americans and Asians are less likely to suffer from Parkinsons disease.
The disease has a high genetic correlation. Treatment (pharmacological or surgical) If the patient is diagnosed with Parkinsons disease, pharmacological treatment is not necessary required. However, if the physician concludes that patient needs pharmacological treatment, the most efficient medications he may use, include dopamine agonists, levodopa, anticholinergic agents, selective monoamine oxidase B (MAO-B) inhibitors, and amantadine. The Disease Proteins Misfolded proteins are considered a common mechanism in Parkinsons disease and other neurodegenerative diseases. Similar to Alzheimer's disease, slow component-b (group of transported proteins), synuclein and tau, are most important for axonal growth and regeneration (Clarke & Moore, 2005). ALS (Amyotrophic Lateral Sclerosis) Clinical Phenomenology Amyotrophic Lateral Sclerosis is a progressive, adult-onset, neurodegenerative disorder that displays itself in profound muscle wasting and weakness (Bromberg, 1999).
ALS usually leads to death through respiratory failure. There are three major clinical variants of ALS recognized, namely, the Western Pacific variant, a classical sporadic variant and an autosomal dominantly inherited variant. The median age of ALS is approximately 59 years old, with the average duration of 49 months (Carvalho, 2008). Some patients report loss of control of one of both legs, while others report problems with hands or arms first. Some patients have problems with speech or swallowing.
However, in every case, disability and weakness quickly spread, affecting almost every part of the body. Diagnostic Criteria Similar to the previous diseases, no specific tests can provide with a definitive diagnosis. The physician might conduct a detailed physical examination and medical interview, with a series of medical tests. Physical examination will include tests on patients movements, mental abilities, reflexes and sensations. Sometimes the patient might be referred to neurologist for more detailed examination. As ALS has symptoms that can be easily assigned to other diseases, the physician will conduct tests to exclude the probability of other disorders.
Electromyography (EMG), nerve conduction velocity (NCV), magnetic resonance imaging (MRI) and other tests might be assigned. Based on findings from tests and patient examination, the physician might administer tests on urine samples and blood, muscle biopsy and other tests. Demography ALS is the most common neuromuscular disease, affecting all races and ethnic backgrounds. People between 40 - 60 years of age are most often affected by ALS, however, older and younger people may also be affected. Men are more susceptible than women. Also, in 90 - 95 % ALS takes place with no clearly associated risk factors, occurring apparently at random.
Patients suffering from ALS usually do not have family history of ALS. Only 5 - 10 % of cases of ALS are inherited (Carvalho, 2008). Treatment (pharmacological or surgical) Similar to previous diseases, no specific and definite treatment is found. The first drug approved by FDA for ALS treatment is riluzole (Rilutek) that is considered to reduce the damage caused to motor neurons by reducing the release of glutamate. However, riluzole fails to reverse the damage caused but only prolongs survival by few months. Other medications are mostly prescribed to relieve the symptoms and to improve the quality of life.
The physician might prescribe medications to ease control spasticity, muscle cramps, to reduce fatigue, excess phlegm and saliva. The Disease Proteins Misfolded proteins are considered a common mechanism in ALS and other neurodegenerative diseases, yet, the disease protein in FTD-U and ALS has remained elusive (Clarke & Moore, 2005). The familial form of Amyotrophic Lateral Sclerosis is a result of inheritance pattern; only one parent is required to carry the gene responsible for ALS. Over 20 % of familial ALS cases occur in result of a specific genetic defect, leading to mutation of the enzyme superoxide dismutase 1 (SOD 1). Huntington's Disease Clinical Phenomenology Huntington's Disease is caused by a faulty gene on chromosome 4. In the vast majority of cases, the symptoms of Huntington's disease develop in people 30 - 50 years old (O'Walker, 2007).
The patients usually report clumsiness, stumbling, problems with concentration and overall decreased cognitive abilities (e. g. , patients report having difficulties with making decisions or learning new information), uncontrollable muscle movements (also fileable movements, including grimacing, etc), personality problems (such as anger, loss of interest, irritability, and depression), and changes in mood (sometimes even antisocial and aggressive behavior). Diagnostic Criteria The diagnosis can be made only by experienced professional neurologists. The neurologist will carefully examine medical history, perform a set of physical exams and tests to test the patients coordination, strength, hearing, involuntary movements, sensation, eye movements, mental status, reflexes, and balance. A number of laboratory tests may also be administered. The neurologist may use genetic or imaging testing to confirm the diagnosis.
Direct Huntington's disease genetic test is used to make and confirm diagnosis. By using a blood sample, the test analyzes patients DNA for Huntington's disease mutation (Andrew & Hayden, 1995). Brain-imaging tests (Computed tomography (CT scan) and magnetic resonance imaging (MRI) ) may also be used; however, they cannot be used alone, as other diseases may cause similar symptoms and changes. Therefore, brain-imaging tests may only be used in conjunction with a record of clinical symptoms, patients family history, CT scans, record of clinical symptoms and MRIs. Demography Huntington's disease usually begins in mid-adulthood, with a typical age between 30 and 55 years old. In the United States, 1 in every 10 - 20, 000 persons suffers from this disease (Andrew & Hayden, 1995).
Treatment (pharmacological or surgical) At the moment, no specific and effective cure exists for Huntington's disease. The treatment is mostly aimed to release the symptoms and to improve patients quality of life, by controlling the movement and emotional problems related to Huntington's disease. Medications used to treat symptoms include: antipsychotic drugs (e. g. , haloperidol, clonazepam, etc), tranquilizers and other medications (O'Walker, 2007).
Antipsychotic drugs are prescribed to alleviate chores movements and to control delusions and hallucinations. Tranquilizers (fluoxetine, sertraline, nortriptyline and other compounds) are used to treat depression (O'Walker, 2007). The Disease Proteins Huntington's disease is considered to be caused by abnormally-shaped (misfolded) proteins. Every person, who has at least one parent with Huntington's disease, has a 50 - 50 chance to inherit the faulty gene. References Andrew, S. , & Hayden, M. (1995). Origins and evolution of Huntington disease chromosomes.
Neurodegeneration, 4 (3), 239 - 44. Bromberg, M. (1999). Accelerating the diagnosis of amyotrophic lateral sclerosis. The Neurologist, 5, 63 - 74.
Carvalho, M. e. (2008). Electro diagnostic criteria for diagnosis of ALS. Clinical Neurophysiology, 119, 497503. Clarke, C. , & Moore, A. (2005). Parkinson's disease.
Clinical Evidence, 14, 16521668. Desai, A. , & Grossberg, G. (2005). Diagnosis and treatment of Alzheimer's disease. Neurology, 64, S 34 S 39. Karlawish, J. , & Clark, C. (2003). Diagnostic Evaluation of Elderly Patients with Mild Memory Problems.
Ann Intern Med. , 138, 411 - 41. Nutt, G. , & Wooten, F. (2005). Diagnosis and Initial Management of Parkinsons Disease. N Engl J Med, 353, 1021 - 7. O'Walker, F. (2007). Huntington's disease.
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