Pmd Case Studies

This case study talks about a couple, Mark and Cory who are dwarfs. They are afraid of becoming parents to a child who is different from them. They feel like if their child is not born like them they wont be capable of taking care of that child. Since they are little people they have made many arrangements in there living environment that suites their lifestyle. They also mention that being little is part of their culture now and that their lives should be seen as dignified as the lives of others. Mark and Cory decided to talk to a genetic counselor about the likelihood of PGD and how this might give them the opportunity of having a child just like them. However when they meet with the genetic counselor he ask the couple to consider

Father lived to 89; he died in hospital following being admitted for pneumonia. Mr Brown did not remember his father ever having ill health apart from what he describes as normal coughs an colds.

There are so many positive aspects to the AMCD. With the diversity in the United states growing each year, it is becoming more important to have an acceptance, understanding, desire, and knowledge of what multiculturalism means. The AMCD does a good job of breaking down their expectations of a counselor’s level of cultural competence. The limitations would be that there is much gray to AMCD, too vague is some instances. I have concerns about the attitudes and beliefs section. Since this boils down to self-awareness, how does a client really know if a counselor is sincere in their session. If a counselor has biases, racism, etc. How would that be handed? Is there any accountability on the part of the counselor?

The occipital lobe is in a posterior position and the function of the occipital lobe is vision including perception and colour and movement (Stannard Gromisch, 2012). Atrophy is described as a process of tissue wastage or cell death (Lippincott Williams & Wilkins, 2006). According to (Jones & Gaillard, 2005-2013) the pathology of PCA includes Neuritic plagues and neurofibrillary tangles which are found in the parieto-occipital and temporo-occipital areas, as well as occasionally in the primary visual cortex. It is thought that PCA is a version of AD, with very little difference in the pathology. “Neuritic plagues or senile plagues are extracellular and composed of a central core of beta-amyloid peptides aggregated together with fibrils of beta-amyloid, dystrophic neurites, reactive astrocytes, phagocytic cells, and other proteins and protein fragments derived from degenerating cells or liberated from neurons” (Weerakkody & Gaillard, 2005-2013).

There are types of MPS 2, called the severe and mild types. While both types affect many different organs and tissues as described, people with severe MPS 2 also experience a decline in intellectual function and more rapid disease progression. Individuals with the severe form begin to lose basic functional skills between ages 6 and 8. The life expectancy of these individuals is 10 to 20 years. Individuals with mild MPS 2 also have a shorten lifespan, but they typically live into adulthood and their intelligence is not affected. Heart disease and airway obstruction are major cause of death in people with both types of MPS

Some experts believe this disease is related to the inhalation of pesticides, while others believe it results from the inhalation of chemical elements such as copper, lead, or manganese. It has been linked to heredity. It is believed that 15% of those diagnosed with the disease have a family history of the mutated gene. Scientists believe there are two types of carriers for this gene that determines a diagnosis of Parkinson’s Disease. The first type of carrier guarantees a diagnosis, whereas the second type of carrier only increases the chance of being diagnosed. This theory has yet to be

Another example of how HD can be described as being the opposite condition to PD, has to do with both behavioral and biological symptoms of the neurodegenerative

On a very rare occasions, there is a late onset on adults. Recently discovered to cause intellectual and

These include motor neuron disease, corticobasal syndrome, progressive supranuclear palsy and FTDP-17 (FTD with parkinsonism linked to chromosome 17).

Fluctuations in cognition, attention or alertness; Problems with movement including tremors, stiffness, slowness and difficulty walking; Visual hallucinations (seeing things that are not present); Sleep disorders, such as acting out one’s dreams while asleep Behavioral and mood symptoms, including depression, apathy, anxiety, agitation, delusions or paranoia; Changes in autonomic body functions, such as blood pressure control, temperature regulation, and bladder and bowel function. The symptoms of LBD are treatable: All medications prescribed for LBD are approved for a course of treatment for symptoms related to other diseases such as Alzheimer’s disease and Parkinson’s disease with dementia and offer symptomatic benefits for cognitive, movement and behavioral problems. (Washington) It is not uncommon, however, for early signs of dementia to go undetected. The Mini Mental Status Exam – a common screening test for cognitive impairment and dementia used by many physicians – is not able to detect cognitive impairment in early DLB. (10 things) Lewy body dementias (LBD) are the second most common form of degenerative dementia. Lewy bodies are misfolded protein deposits found in the brains of individuals with several different disorders including Parkinson’s disease (PD) and dementia with Lewy bodies (DLB); and the autopsy of Mr. Williams, indicated the presence of ‘diffuse Lewy body dementia’ in the brain of Mr. Williams. This is more commonly called ‘diffuse Lewy body disease’ which reflects the biological disease process in the brain. LBD is an umbrella term for dementia associated with the presence of Lewy bodies (abnormal deposits of a protein called alpha-synuclein) in the brain. (Washington) Although with so much intensive research, doctors still have trouble diagnosing patients

Between 750,000 and 1.5 million individuals in the United States have Parkinson's ailment. Most instances of the condition result from an unpredictable connection of ecological and hereditary components. Caucasian men are 1.5 times more probable than ladies to build up the condition, and its prevalence increments with age. Roughly 5 percent of individuals determined to have PD have a family history of the confusion. Such familial cases can be caused by transformations in five qualities that give critical data about atomic pathways associated with the infection. Changes of the LLRK2, or SNCA quality, in an autosomal predominant example. This implies one duplicate of an adjusted quality in every cell is adequate to cause the confusion. In these

Brain disorders are categorized as major health conditions based on the fact that the brain is the control center of the body. Brain disorders come in many forms and at times are difficult to diagnose based on their complexity. A very rare degenerately unchangeable brain disorder of the central nervous system is Creutzfeldt-Jakob disease (CJD). Creutzfeldt-Jakob disease affects one person in a million within a population that is worldwide (Llorens et al., 2015). The USA is known to have two hundred cases of patients diagnosed with Creutzfeldt-Jakob disease each year (Llorens et al., 2015). Although the disease is very rare, it is very deadly because after onset of symptoms of the disease the patient usually passes after a year of diagnosis. Most patients develop the disease around their sixties and typically only have one year left to live (Head et al., 2009). CJD can be categorized etiologically as sporadic, infectious, and inherited neurodegenerative disorder due to the misfolded proteins making it very unique. Symptoms in clinical trials of CJD have consisted of rapid onset of progressive dementia, involuntary muscle contractions, inability to balance, cognitive impairment and visual deterioration (Gozke et al., 2008).

Previous study was conducted to assess the impression of PMPS on patients life used the MPQ-SF to identify four subscales exploring physical well-being, physical autonomy, relational life and psychological well-being in 757 disease-free patients treated for breast cancer between the years 1995 and 1998. A final analysis of 529 patients revealed that 39.7% of these women reported pain, and that the women with pain had significantly worse QOL scores on all of the subscales than those without pain

In 1906 a physician, named Alois Alzheimer, cared for a fifty-one year old patient with severe dementia. Upon her death, he was able to examine her brain at autopsy. Dr. Alzheimer was able to take advantage of recent innovations in microscopy and histological techniques that allowed him to study in detail the cellular components in nervous tissue. He found that the brain of his patient had severe cortical atrophy and described the neurofibrillary bundles and plaques that are now the hallmark for definitive diagnosis of what he at that time called “presenile dementia”. An account of his first patient was published in 1907. It is a little ironic that reevaluation this case has lead some to believe that this first patient did not suffer from the Alzheimer’s disease at all. Instead they believe she suffered from a different, rare disease called metachromatic leukodystrophy (Izenberg, 2000).

PML is a rare brain demyelinating pathology, characterized by the infection of glial cells, affecting predominantly adults and only occasionally children. Patients have neuropsychological deficits at the time of the onset of the disease. Common symptoms are: motor deficits, altered state of consciousness, visual disturbances and ataxia. However, there are also atypical manifestations that include cerebellar syndrome, meningitis, and meningoencephalitis, progressive myoclonic ataxia, muscular degeneration associated with signs extrapyramidal (Fig.).