The juvenile form of Pompe disease is MOST often associated with which of the following clinical abnormalities?
Pompe disease is a disorder of carbohydrate metabolism and one of several glycogen storage diseases. The defective enzyme (acid α-glucosidase) impedes the breakdown of glycogen into glucose, thus impairing gluconeogenesis. The enzyme is located in cellular lysosomes, particularly heart and skeletal muscle. Left untreated, glycogen deposits accumulate in end organs, specifically the heart and skeletal muscles, which can result in cardiomegaly and congestive heart failure, skeletal muscle weakness, and hypotonia.
The infantile form of Pompe disease (Figure) presents early in life with congestive heart failure and death before age 2 years. The juvenile form of Pompe disease presents with significant weakness of skeletal and respiratory muscles. Another feature of the juvenile form is cardiac hypertrophy and subaortic stenosis, as well as enlargement and protrusion of the tongue, possibly making intubation difficult....
