CASE STUDY #1 (Required)
Chen is cooking dinner for his family. He moves to pull a pot off the stove and accidently 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 stove. Evolutionarily, why do you think the human body
has this system in place? Why is this reflex important? Chens 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 weeks 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 happen if Amira
had touched the burner? How would her response be different than Chens? 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 (tremor) 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 Parkinsons disease. What is Early-Onset
Parkinsons disease? How is the disease different from Parkinsons disease? What is the
neurotransmitter affected by this disorder? What is this neurotransmitters 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 Parkinsons disease. Find a reliable
source related to the relationship between the SNCA gene and Early-Onset Parkinsons 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 mentions
symptoms she has been experiencing over the last few months. These symptoms include blurred
vision, numbness in her fingers and face, dizzines.
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CASE STUDY 1 Required Chen is cooking dinner for his fami.pdf
1. CASE STUDY #1 (Required)
Chen is cooking dinner for his family. He moves to pull a pot off the stove and accidently 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 stove. Evolutionarily, why do you think the human body
has this system in place? Why is this reflex important? Chens 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 weeks 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 happen if Amira
had touched the burner? How would her response be different than Chens? 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 (tremor) 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 Parkinsons disease. What is Early-Onset
Parkinsons disease? How is the disease different from Parkinsons disease? What is the
neurotransmitter affected by this disorder? What is this neurotransmitters 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 Parkinsons disease. Find a reliable
source related to the relationship between the SNCA gene and Early-Onset Parkinsons 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 mentions
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 Monicas 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 clear. Find a reliable source related to
the etiology of multiple sclerosis. Based on your research, what do scientists hypothesize to be the
2. causes of MS? Include the appropriate reference and citation for the source you consulted.