A 19-year-old man has early fatigue and muscle cramps while playing sports. He is fine when walking or doing light levels of work. On examination, he appears well and the muscle strength in the proximal muscles is normal. There is no muscle fatigue with repetitive arm grip exercises. After an exercise stress test, his serum creatine kinase (CK) is elevated and lactate level is normal. Which of the following is the most likely diagnosis?
Correct Answer: McArdle's disease (glycogen storage disease)
Description: There are many types of glycogen storage diseases, each caused by a different enzymatic abnormality. The best-known types of glycogen storage disease are those that have hepatic-hypoglycemic pathophysiology (e.g., von Gierke's disease) or those that have muscle energy pathophysiology (McArdle's disease). In McArdle's symptoms usually develop in adulthood, and it is marked by cramps and muscle injury with strenuous exercise, but not with usual activities. Gaucher's and Tay-Sachs disease are lysosomal storage diseases.
Category:
Medicine
Get More
Subject Mock Tests
Practice with over 200,000 questions from various medical subjects and improve your knowledge.
Attempt a mock test nowMock Exam
Take an exam with 100 random questions selected from all subjects to test your knowledge.
Coming SoonGet More
Subject Mock Tests
Try practicing mock tests with over 200,000 questions from various medical subjects.
Attempt a mock test now