This page is dedicated to organizing various examples of standardized exam questions whose answer is Tay-Sachs disease. While this may seem a odd practice, it is useful to see multiple examples of how Tay-Sachs 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 disease is quite valuable.
KEY CHARACTERISTICS OF THIS CONDITION (ON EXAMS)
When it comes to standardized exams, each condition 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 Tay-Sachs disease.
- Developmental delay: patients may not reach developmental milestones
- Fundoscopy can show a cherry red spot on macule: due to the deposition of GM2 ganglioside
Question # 1
Explanation # 1
Question # 2
Explanation # 2
TESTABLE FACTS ABOUT THIS CONDITION (BEYOND ITS IDENTIFICATION)
Many questions on standardized exams go beyond simply recognizing the underlying condition. Often there are specific testable facts regarding some aspect of the disease’s pathophysiology/management/clinical implications that are commonly asked. Some of these are listed below:
- Cause: mutation in hexosaminidase A gene (HEXA)
- Consequence: Hexosaminidase A enzyme normally will process GM2 gangliosides, so when it is no longer active, these substrates begin to accumulate
- Inheritance pattern: autosomal recessive
Page Updated: 04.17.2017