Case Studies in Neurology
Case Study 1: Chen
The role of the spinal cord and brain in this response
In the scenario mentioned above, the response exhibited is called a reflex arc. A reflex arc is an instantaneous and involuntary response to stimuli and requires no thought. This is useful in situations when the stimulus is harmful to the body. The reflex arc involves the sensory neuron, which is stimulated by the hot surface; the sensory neuron transmits the signal to the spinal cord, where it synapses. In the spinal cord, a connecting neuron picks up the signal and, through a synapse, transmits the signal to the responding neuron, the motor neuron. The motor neuron then transmits the muscles of the arm, causing contraction, and the response of pulling away occurs.
The three types of neurons in the reflex arc and the reflex that results in Chen moving his hand away from the stove
There are three types of neurons involved in a reflex arc—the sensory neuron picks up the sensation of pain and transmits it to the spinal cord. The second neuron is the relay neuron, which acts as a connection between the sensory neuron and the motor neuron in the spinal cord. The last neuron is the motor neuron that transmits the effector signal to produce a reaction towards the stimulus. The withdrawal reflex resulting in Chen moving his hand away resulted in the motor neuron transmitting its signals to the muscles of the arm. Consequently, the muscles contracted, causing the whole arm to move away from the stove.
Importance of the Reflex
The human body has the reflex arc to help protect the body from the stimulus that requires a quick reaction, or else harm is inflicted on the body. This reflex is essential because while other responses take a while for a response to occur due to the delay of routing signals through the brain, a reflex arc is instantaneous. Additionally, the reflex arc is mainly used when the body gets a painful stimulus; hence, it protects it from harm.
Chen’s wife, Amira, was born with congenital insensitivity to pain, which prevents one’s ability to distinguish bodily pain.
Congenital Insensitivity to Pain
Congenital insensitivity is an exceptional illness characterized by the absence of nociception. Nociception is a sensory nervous system responsible for encoding noxious stimuli, i.e., pain stimuli (Schon et al., 2020).
Signs and Symptoms of This Condition
Some of the symptoms that manifest in congenital insensitivity include insensitivity to pain as the primary symptom, hypothermia or hyperthermia, skin dryness, and neuropathic keratitis. Additional symptoms are longstanding infections, dental or oral infections, and multiple unintentional injuries.
Sodium Ions Channel and Congenital Insensitivity to Pain
During the conduction of nerve impulses across neurons, sodium and potassium play a crucial role by acting like chemical batteries that power the impulses. Over the years, studies have shown that sodium ions play a significant role in the conduction of pain sensations and nociception. According to Goldberg et al. 2007, the loss of functionality of a sodium channel known as Nav 1.7 results in congenital insensitivity to pain. Moreover, Cox et al., 2006 demonstrate that mutation in Nav 1.7 leads to different changes in an individual’s ability to perceive pain. Suppose one has a mutation in Nav 1.7; the symptoms and signs of congenital insensitivity are bound to be evident.
Suppose Amira was the One Who Touched the Burner Instead of Chen
If Amira had touched the stove, she would not have pulled her hand away with the congenital insensitivity condition. The situation would have been worse because, with her inability to feel pain, her hand would have remained on the stove, and by the time she noticed, the burns would have been severe.
Advice to a Child with Congenital Insensitivity and Wants to Play Contact Sports.
My advice to such a child would be to avoid contact sports. The inability to feel pain would play out dangerously if the child were injured on the field because they would not tell if something was wrong. Even a superficial wound like a scratch could easily go unnoticed and end up being badly infected. In case of a fracture, the same situation would happen, and the fracture would only be detected later on from visible signs like discoloration from infection and blood clots.
Pathophysiology of Parkinson’s Disease | ATrain Education. Atrainceu.com. https://www.atrainceu.com/content/2-pathophysiology-parkinson%E2%80%99s-disease
CK-12 Foundation. CK12-Foundation. CK-12 Foundation. https://flexbooks.ck12.org/cbook/cbse-biology-class-10/section/6.2/related/lesson/the-nerve-impulse-advanced-bio-adv/
Cox, J. J., Reimann, F., Nicholas, A. K., Thornton, G., Roberts, E., Springer, K., … & Woods, C. G. (2006). An SCN9A channelopathy causes a congenital inability to experience pain. Nature, 444(7121), 894-898.
Day, J. O., & Mullin, S. (2021). The genetics of Parkinson’s disease and implications for clinical practice. Genes, 12(7), 1006.
Goldberg, Y. P., MacFarlane, J., MacDonald, M. L., Thompson, J., Dube, M. P., Mattice, M., … & Hayden, M. R. (2007). Loss‐of‐function mutations in the Nav1. Seven genes underlie congenital indifference to pain in multiple human populations. Clinical genetics, 71(4), 311-319.
Reflexes | Boundless Anatomy and Physiology. Courses.lumenlearning.com. https://courses.lumenlearning.com/boundless-ap/chapter/reflexes/
Schon, K. R., Parker, A. P. J., & Woods, C. G. (2020). Congenital insensitivity to pain overview.
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Focus on Case Studies in Neurology
For this assignment, you will address the first case study and then choose ONE of the other two case studies to address in your assignment.
What is a Case Study? “A case study is a narrative used to help you practice real-life analysis and communication skills. It is a learning tool that provides readers with “enough detail…to understand the nature and scope of the problem, and…serve as a springboard for discussion and learning” (O’Rourke, 2007, p. 391).
Use your textbook and academic resources from the Purdue Global Library to support your responses. You can access the Library directly from the Course Resources area for this class or through the student portal. Be sure to cite and reference all your sources. The Library has a feature that allows you to automatically create an APA formatted reference.
Your assignment should be between 750–1000 words, and all sources must be properly cited using APA format.
CASE STUDY #1 (Required)
Chen is cooking dinner for his family. He moves to pull a pot off the stove and accidentally touches the burner. Reflexively, he pulls his finger away from the stove and immediately feels the pain.
- What is the role of the brain and spinal cord in this response?
- Describe the three types of neurons involved in this response and their role in the reflex arc. Explain the withdrawal reflex that results in Chen moving his hand away from the
- Evolutionarily, why do you think the human body has this system in place? Why is this reflex important?
- Chen’s wife, Amira, was born with congenital insensitivity to pain, a condition that inhibits the ability to perceive physical pain. Find a reliable source related to congenital insensitivity to pain and address the following questions:
- What is congenital insensitivity to pain?
- What are some of the signs and symptoms of this condition?
- In this week’s reading, you learned about the role of sodium ions in the conduction of nerve impulses. Individuals with congenital insensitivity to pain are unable to make a sodium channel called NaVi.7. How is this related to the signs and symptoms of the disease?
- What might have happened if Amira had touched the burner? How would her response be different than Chen’s?
- What advice would you give to a child who has this condition and is interested in playing contact sports? What would happen if this child experienced a fracture?
CASE STUDY #2
Agnes is 45 years old when she notices that her hands shake (tremors) when she is performing everyday tasks like signing contracts at her law firm. Her friends and family also notice that she is moving slower than usual and that she shuffles when she walks. After consulting with a neurologist, Agnes is diagnosed with early-onset Parkinson’s disease.
- What is Early-Onset Parkinson’s disease? How is the disease different from Parkinson’s disease?
- What is the neurotransmitter affected by this disorder? What is this neurotransmitter’s role? How does the decrease in the concentration of this neurotransmitter explain Agnes’ symptoms?
- What is the most common treatment for this disorder? What is the mechanism of action of the treatment?
- Agnes’ neurologist refers her to a geneticist who later determines that she carries an autosomal dominant mutation in the SNCA gene associated with early onset Parkinson’s disease. Find a reliable source related to the relationship between the SNCA gene and early-onset Parkinson’s Disease. Summarize the information you obtain. Based on your research, would you advise her three children to have genetic testing performed to determine if they also carry the disease mutation? Why or why not? Include the appropriate reference and citation for the source you consulted.
CASE STUDY #3
Monica just celebrated her 30th birthday. During her annual physical exam, Monica mentioned symptoms she has been experiencing over the last few months. These symptoms include blurred vision, numbness in her fingers and face, dizziness, fatigue, weakness, and depression. Although Monica believes that these symptoms are related to stress and aging, her physician is concerned and suspects that Monica may have multiple sclerosis (MS).
- What is MS?
- What is the main cell structure affected in MS? What is the role of this structure?
- How does the impact of MS on this cell structure help to explain Monica’s symptoms? Include an explanation of how the action potential of a neuron is affected in MS.
What is the treatment for multiple sclerosis? What is the mechanism of action of the treatment?
- The origin or etiology of MS is not. Find a reliable source related to the etiology of multiple sclerosis. Based on your research, what do scientists hypothesize to be the causes of MS? Include the appropriate reference and citation for the source you consulted.
Basic Writing Requirements:
The essay should be formatted as per APA formatting guidelines, double spacing the assignment and using a 10 or 12 font size. The essay should include a title page, an introduction, and a conclusion.
The body of the essay should address the different topics and questions described above. All statements of fact should be included in an APA reference list at the end of the essay.
The essay should be a minimum of 750 words in length, not including the title page and reference list.
Submitting Your Assignment
Save your copy of the assignment in a location with a name that you will remember. Be sure to use the “Save As” option to include your first and last name in the title of the document. For example, your assignment might be called Shawn_Edwards_Assignment6.doc.
When you are ready, submit your work via the Dropbox.
O’Rourke, J. S. (2007). Management communication: A case-analysis approach. Pearson/Prentice Hall.
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