Differential Diagnosis

Historically, Pompe disease has sometimes been confused with 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.^{1, 4, 5, 6}

Differential Diagnoses for Infantile-Onset

DIFFERENTIAL DIAGNOSES for INFANTILE-ONSET	SHARED SIGNS & SYMPTOMS
Spinal muscular atrophy I (Acute Werdnig-Hoffman disease)	Hypotonia, progressive proximal muscle weakness, absent reflexes, feeding difficulties
Danon disease	Hypertrophic cardiomyopathy, skeletal muscle myopathy, vacuolar glycogen storage
Endocardial fibroelastosis	Breathlessness, feeding difficulties, cardiomegaly, heart failure
Carnitine deficiency	Cardiomyopathy, muscle weakness
Glycogen storage diseases (GSD) III and IV	Hepatomegaly, hypotonia, cardiomegaly, muscle weakness, elevated creatine kinase (CK)
Idiopathic hypertrophic cardiomyopathy	Biventricular hypertrophy
Myocarditis	Inflammation of the myocardium contributing to cardiac enlargement
Mitochondrial disorders	Hepatomegaly, cardiomyopathy, myopathy

Differential Diagnoses for Late-Onset

DIFFERENTIAL DIAGNOSES for LATE-ONSET	SHARED SIGNS & SYMPTOMS
Limb girdle muscular dystrophy (LGMD)	Progressive muscle weakness in the pelvis, legs, or shoulders
Becker/Duchenne muscular dystrophy	Progressive proximal muscle weakness, respiratory impairment, difficulty walking
Polymyositis	Progressive, often symmetrical, muscle weakness
Rheumatoid arthritis	Generalized weakness, fatique, musculoskeletal symptoms
Glycogen storage diseases (GSD) III and IV	Hypotonia, hepatomegaly, muscle weakness, elevated creatine kinase (CK)
Glycogen storage disease (GSD) V	Elevated creatine kinase (CK), muscle cramps during exercise

References

1. King, Frank J. Acid Maltase Deficiency Myopathy. eMedicine Specialties. Available at: http://www.emedicine.com/pmr/topic2.htm. Accessed September 7, 2005.

2. Anderson, Wayne E. Glycogen Storage Disease Type II. eMedicine Specialties. Available at: http://www.emedicine.com/med/topic908.htm. Accessed September 13, 2005.

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: Scriver C, Beaudet A, Sly W, Valle D, editors. 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 September 7, 2005.

6. Ibrahim, Jennifer. Glycogen Storage Disease Type II. eMedicine Specialties. Available at:

http://www.emedicine.com/ped/topic1866.htm. Accessed August 22, 2005