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OVERVIEW
This page is dedicated to organizing various examples of standardized exam questions whose topic is Pompe disease. While this may seem a odd practice, it is useful to see multiple examples of how Pompe disease will be characterized on standardized exams (namely the boards and the shelf exams). This page is not meant to be used as a traditional question bank (as all of the answers will be the same), however seeing the classic “test” characterization for a topic is quite valuable.
KEY CHARACTERISTICS OF THIS CONDITION (ON EXAMS)
When it comes to standardized exams, each topic has its own “code” marked by key buzzwords, lab findings, clues, etc. If you are well versed in this code you will be able to more quickly identify the condition that is being discussed, and get the right answer on the exam you are taking. Below is the “code” for Pompe disease.
- Exercise intolerance
- Hypotonia
- Cardiomegaly can be detected (such as on an X-ray). Can be seen in infants.
- Increased glycogen will be present in the muscles (can be detected on muscle biopsy).
QUESTION EXAMPLES
Question # 1
Explanation # 1
Question # 2
Explanation # 2
TESTABLE FACTS ABOUT THIS TOPIC (BEYOND ITS IDENTIFICATION)
Many questions on standardized exams go beyond simply recognizing the underlying topic. Often there are specific testable facts regarding some aspect of the topic’s pathophysiology/management/clinical implications that are commonly asked. Some of these are listed below:
- Cause: deficiency of lysosomal acid alpha-1,4-glucosidase.
- Consequence: glycogen can not be broken down. There will be an increased amount, however it will have normal structure.
Page Updated: 04.30.2017