NURS 6501 Week 1 Discussion: Advanced Pathology Research 

NURS 6501 Week 1 Discussion: Advanced Pathology Research

NURS 6501 Week 1 Discussion: Advanced Pathology Research

Post an explanation of the disease highlighted in the scenario you were provided- (Pakinson’s disease). Include the following in your explanation:

The role genetics plays in the disease.
Why the patient is presenting with the specific symptoms described.

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The physiologic response to the stimulus presented in the scenario and why you think this response occurred.
The cells that are involved in this process.
How another characteristic (e.g., gender, genetics) would change your response.

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Advanced Pathophysiology: Parkinsonism

            Parkinson’s disease or Parkinsonism is a neurodegenerative disorder that affects neurones and causes lack of coordination, tremors, stiffness, problems with balance, and uncontrollable movements (Hammer & McPhee, 2018). The condition progresses slowly and worsens over time making the victim unable to walk or to talk. Because of this, it is an important cause of major neurocognitive disorder (NCD) and is recognized in the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders or DSM-5 as such (APA, 2013; Sadock et al., 2015). The purpose of this paper is to look at the role of genetics in the disease, the cells involved, signs and symptoms, and the physiological response.

The Role of Genetics in Parkinson’s Disease

            Genetics indeed has a role to play in the development of Parkinson’s disease. Studies and epidemiological data have shown that between 10 and 15 people out of 100 people with Parkinson’s disease have family histories of the disease (Parkinson’s Foundation, 2022). However, even in these persons, genetics alone cannot be the cause of the manifestation of the condition. The more realistic situation is an interaction of the genes and favorable environmental factors to produce symptoms of the degenerative disease. Studies have also shown that some people may have mutations of genes related to Parkinsonism but do not end up developing the disease. This is according to the Parkinson’s Foundation (2022). Much research is still in progress on this front.

Reason for the Specific Symptoms

            The patient with Parkinsonism presents with bradykinesia or a slowing of movements, shaking of the limbs, a change in posture, disturbance in the achievement of spatial balance, changes in speech, and difficulty walking amongst others (Hammer & McPhee, 2018). The reason as to why the patient is presenting with these symptoms is that the disease affects dopamine-producing neurons only. These are referred to as dopaminergic neurons and Parkinsonism affects mainly those that are found in the part of the brain known as the substantia nigra. Dopaminergic neurons are very important in mediating voluntary movement (Jameson et al., 2018). The impairment in their function is what causes the bradykinesia, tremors, and gait and posture problems.

Physiologic Response and Cells Involved in the Process

            The cells involved in Parkinsonism as well as the physiological response to the disease are the neurons that produce dopamine as a neurotransmitter. With the deficiency of dopamine and the alteration of its actions at synaptic endings in Parkinson’s disease, voluntary movements begin to get affected. Impaired stimulation occurs on the skeletal muscles of the upper and lower limbs causing movement difficulties and bradykinesia. The same occurs to voluntary muscles used in speech causing difficulty speaking. Tremors also occur as a result.

Gender and Parkinson’s Disease

            The factor of gender is another characteristic that may alter my response as above. Studies have shown that Parkinson’s disease affects men 1.5 to 2.0 times more than women. Also, the age of onset in men is earlier than that in women (Georgiev et al., 2017). What this entails is that men are more affected by the disease and also start getting the symptoms when younger than the women.

Conclusion

            Parkinson’s disease is a neurodegenerative condition that is debilitating and disabling. Affected persons cannot balance or walk well. Hey also cannot hold their hands steady as they tremble and remain shaky all the time. Genetics plays a significant role in the development of the disease. This is in conjunction with environmental factors.  

References

American Psychological Association [APA] (2013). Diagnostic and Statistical Manual of Mental Disorders (DSM-5), 5^th ed. Author.

Georgiev, D., Hamberg, K., Hariz, M., Forsgren, L., & Hariz, G.-M. (2017). Gender differences in Parkinson’s disease: A clinical perspective. Acta Neurologica Scandinavica, 136(6), 570–584. https://doi.org/10.1111/ane.12796 

Hammer, D.G., & McPhee, S.J. (Eds). (2018). Pathophysiology of disease: An introduction to clinical medicine, 8^th ed. McGraw-Hill Education.

Jameson, J.L., Fauci, A.S., Kasper, D.L., Hauser, S.L., Longo, D.L., & Loscalzo, J. (Eds) (2018). Harrison’s principles of internal medicine, 20^th ed. McGraw-Hill Education.

Parkinson’s Foundation (2022). Genetics and Parkinson’s. https://www.parkinson.org/understanding-parkinsons/causes/genetics#:~:text=Researchers%20do%20not%20know%20why,down%20from%20generation%20to%20generation

Sadock, B.J., Sadock, V.A., & Ruiz, P. (2015). Synopsis of psychiatry: Behavioral sciences clinical psychiatry, 11^th ed. Wolters Kluwer.