Pompe Disease

Differential Diagnosis

Historically, Pompe disease has sometimes been misdiagnosed as limb girdle muscular dystrophy, Duchenne muscular dystrophy, or polymyositis. ^{[1, 2]} Depending on the individual's presenting symptoms and age of onset, there may be several other possible causes to evaluate during the diagnostic query. The table below summarizes the more common differential diagnoses as well as the shared manifestations that may be suggestive of that particular disease. ^{[3, 4, 5, 6]}

Please click here to view definitions of differential diagnoses terms.

References

1. King, Frank J. Acid Maltase Deficiency Myopathy. eMedicine Specialties. Available at: http://www.emedicine.com/pmr/topic2.htm . Accessed November 7, 2002.

2. Anderson, Wayne E. Glycogen Storage Disease Type II. eMedicine Specialties. Available at: http://www.emedicine.com/med/topic908.htm . Accessed November 7, 2002.

3. Personal communication with Dr. Priya Kishnani, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina.

4. Hirschhorn, Rochelle and Arnold J. J. Reuser. Glycogen Storage Disease Type II: Acid-Alpha Glucosidase (Acid Maltase) Deficiency. In: Wonsiewicz M, Noujaim S, Boyle P, eds. The Metabolic and Molecular Bases of Inherited Disease. 8th Edition. New York: McGraw-Hill; 2001; 3389-3420.

5. King, Frank J. Acid Maltase Deficiency Myopathy. eMedicine Specialties. Available at: http://www.emedicine.com/pmr/topic2.htm . Accessed November 7, 2002.

6. Ibrahim, Jennifer. Glycogen Storage Disease Type II. eMedicine Specialties. Available at: http://www.emedicine.com/ped/topic1866.htm Accessed November 7, 2002.