Which diagnostic test(s) would you recommend for a patient that you suspect is showing signs of early stage Charcot-Marie-Tooth disease? (Check all that apply.)
_____ Culture and protein expression profile of oligodendrocytes
_____ EKG to look for rhythmic abnormalities
_____ EMG to test muscle responses
_____ fMRI of the frontal lobe of the brain
_____ fMRI of the rACC of the brain
_____ Genetic testing for mutations in the PMP22 and MFN2 genes
_____ Nerve biopsy to look for signs of demyelination
_____ Nerve conduction study to test the rate of impulse conduction
Clarify Question
· What is the key concept addressed by the question?
· What type of thinking is required?
Gather Content/Choose Answer
· What do you already know about components of the nervous system? What other information is related to the question?
Reflect on Process
· Did your problem-solving process lead you to the correct answer? If not, where did the process break down or lead you astray? How can you revise your approach to produce a more desirable result?
_____ Culture and protein expression profile of oligodendrocytes
_____ EKG to look for rhythmic abnormalities
__X__ EMG to test muscle responses
_____ fMRI of the frontal lobe of the brain
_____ fMRI of the rACC of the brain
__X__ Genetic testing for mutations in the PMP22 and MFN2 genes
__X__ Nerve biopsy to look for signs of demyelination
__X__ Nerve conduction study to test the rate of impulse conduction
Clarify Question
· What is the key concept addressed by the question?
o The question is asking you to recommend clinical tests for a disease.
· What type of thinking is required?
o This question is asking you to evaluate the causes and consequences of Charot-Marie-Tooth disease.
Gather Content/Choose Answer
· What do you already know about components of the nervous system? What other information is related to the question?
o To solve this problem, you’ll need to apply your knowledge about the causes and consequences of Charcot-Marie-Tooth (CMT) disease. CMT is caused by mutations in PMP22 and MFN2 proteins, which leads to demyelination and degeneration of motor neurons. This degeneration leads to lack of muscle activation and muscle atrophy and weakness. The first answer is incorrect because oligodendrocytes are not found in the motor neurons that are affected by CMT. The second answer is incorrect because EKG are used to record heart rhythms and not skeletal muscle contraction. As, CMT causes muscle weakness, EMG would be an appropriate test. The fMRI tests would be inappropriate as they are measuring brain activity and not muscle activity. Genetic testing for PMP22 and MFN2 would be sensible since both genes have been implicated in CMT. Looking for signs of demyelination or decreased nerve conduction would also be appropriate.
Reflect on Process
· Did your problem-solving process lead you to the correct answer? If not, where did the process break down or lead you astray? How can you revise your approach to produce a more desirable result?
o If you figured out the correct answer, good job! If not, where did you go wrong? Did you remember that CMT is a disease caused by motor nerve degeneration that results in muscle weakness? Did you forget that fMRI is a brain scanning technique and EKG a hear monitoring technique? Did you forget that oligodendrocytes are only found in the central nervous system and not the peripheral nerves (like motor nerves)?
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