A patient with a genetically inherited neuromuscular disorder reports weakness in their hands and feet with normal strength elsewhere. The patient experiences difficulty with grasping objects and demonstrates a steppage gait pattern. This clinical presentation is MOST consistent with which of the following medical conditions?

1. Guillain-Barre syndrome
2. Charcot-Marie-Tooth disease
3. Post-polio syndrome
4. Huntington’s disease

Transcript

Welcome back to the Scorebuilders’ Question and Answer Podcast! This podcast provides members of the Scorebuilders’ team with the opportunity to explore challenging multiple-choice examination questions with students actively preparing for the licensing examination. My name is Scott Giles and I will be your host for today’s journey.

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A patient with a genetically inherited neuromuscular disorder reports weakness in their hands and feet with normal strength elsewhere. The patient experiences difficulty with grasping objects and demonstrates a steppage gait pattern. This clinical presentation is MOST consistent with which of the following medical conditions?

1. Guillain-Barre syndrome
2. Charcot-Marie-Tooth disease
3. Post-polio syndrome
4. Huntington’s disease

Nervous System Pathology

Pathology of the nervous system can be caused by a variety of different factors. Some etiologies include mechanical trauma (e.g., carpal tunnel syndrome, thoracic outlet syndrome), hereditary inheritance (e.g., Charcot-Marie-Tooth disease), metabolic disease (e.g., diabetic neuropathy), and viral infection (e.g., Guillain-Barre syndrome, post-polio syndrome).

This question is asking you to identify the medical condition most consistent with the described clinical presentation. 

Stated differently: Looks like…Sounds like…Smells like…

Questions like this are common on the NPTE. In fact, there is an entire content outline category called Foundations for Evaluation, Differential Diagnosis, and Prognosis which represents approximately 33% of all NPTE questions. 

Let’s explore each of the options:

Option 1 - Guillain-Barre syndrome

Guillain-Barre syndrome has various clinical presentations, though the most common subtype is characterized by weakness that begins distally and rapidly progresses to involve more proximal musculature. Guillain-Barre syndrome is not a genetically inherited condition. The exact etiology is not known, though its onset has been associated with bacterial and viral infections, surgery, and vaccinations.

Option 2 - Charcot-Marie-Tooth disease

Charcot-Marie-Tooth disease is a hereditary disorder characterized by motor and sensory neuropathy, progressive muscle wasting, and diminished deep tendon reflexes. The disease initially affects the ankle dorsiflexors and evertors resulting in foot drop, and thus a compensatory steppage gait pattern. As Charcot-Marie-Tooth disease progresses, it involves the intrinsic musculature of the hands leading to difficulty with fine motor tasks.

Option 3 – Post-polio syndrome

Post-polio syndrome refers to new neuromuscular symptoms that occur years after recovery from the initial episode of poliomyelitis. The presentation of weakness can vary, but it is usually focal and asymmetric. Distal musculature is not necessarily affected more than proximal musculature. Additionally, post-polio syndrome occurs as the result of a viral infection and therefore is not a hereditary disease.

Option 4 – Huntington’s disease

Huntington’s disease, also known as Huntington’s chorea, is a genetically transmitted neurological disorder of the central nervous system and is characterized by degeneration and atrophy of the basal ganglia and cerebral cortex. Huntington’s disease initially presents with involuntary choreic movements and a mild alteration in personality. As the disease progresses, gait will become ataxic and a patient experiences choreoathetoid movement of the extremities and trunk. Speech deterioration, unintentional facial expressions (e.g., grimacing, tongue protrusion), and mental deterioration are common.

The correct answer is Option 2.

Let’s explore the all student data:

26% of students selected Option 1 - Guillain-Barre syndrome
44% of students selected Option 2 - Charcot-Marie-Tooth disease – the correct response
5% of students selected Option 3 - Post-polio syndrome
25% of students selected Option 4 - Huntington’s disease

System Classification
This question is a Neuromuscular and Nervous Systems question which represents approximately 24% of all exam items.

Content Outline Classification
This question is a Foundations for Evaluation, Differential Diagnosis, and Prognosis question which represents approximately 33% of all exam items.

Level Classification
This question is a Level 2 question since the question requires students to integrate numerous pieces of information or to apply knowledge in a given clinical scenario. Remediation of Level 2 questions occurs by increasing flexibility with academic content and by carefully analyzing decision making processes when answering applied examination questions.

Thanks for joining us on the Scorebuilders Q and A podcast! See you next week!