What Disorders Share Symptoms With Pompe Disease?

Pompe disease shares symptoms with several more common disorders. Because of this, physicians are careful to rule out other possible causes in the course of diagnosis. If only one sign or symptom is present, it may be hard to make a firm diagnosis until more symptoms develop.

The two charts below list some of the other disorders whose signs and symptoms may overlap with Pompe disease.

Differential Diagnoses for Infantile-Onset

Differential Diagnoses for Infantile-Onset	Shared Signs & Symptoms
Spinal muscular atrophy I (Acute Werdnig-Hoffman disease)	Poor muscle tone, progressive muscle weakness, absent reflexes, feeding difficulties
Danon disease	Heart enlargement, skeletal muscle weakness and atrophy, excessive storage of glycogen in the cells
Endocardial fibroelastosis	Breathlessness, feeding difficulties, enlarged heart, heart failure
Carnitine deficiency	Heart enlargement, muscle weakness
Glycogen storage diseases III, IV	Poor muscle tone, enlarged liver, muscle weakness, elevated creatine kinase (CK)
Idiopathic hypertrophic cardiomyopathy	Unexplained enlargement of both of the heart's lower chambers, or ventricles
Myocarditis	Inflammation of the heart muscle, contributing to enlargement of the heart
Mitochondrial disorders	Enlarged liver, elevated creatine kinase (CK), heart disease

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 (DMD)	Progressive muscle weakness, respiratory impairment, difficulty walking
Polymyositis	Unexplained muscle weakness
Rheumatoid arthritis	Progressive muscle weakness, respiratory impairment, difficulty walking
Glycogen storage disease III	Poor muscle tone, enlarged liver, muscle weakness, elevated creatine kinase (CK)