Symptoms Shared with Other Diseases

Diagnosing Pompe disease can be challenging for several reasons. Because the disorder is so rare, many doctors have not encountered it before and may not think to consider it as a possible diagnosis. In addition, many Pompe disease symptoms are not unique to it, and can thus be easily diagnosed as those of other, more common diseases.

When diagnosing a patient with Pompe disease, doctors will usually first rule out other more common possible causes of the symptoms. This process is called differential diagnosis, because they try to “differentiate” the signs and symptoms of various diseases. A variety of medical and lab tests can help during this investigation.

Learn about tests used in the diagnostic process

Once doctors narrow down the options to include Pompe disease, making the diagnosis is relatively easy and can be done with a simple blood test.^[¹^]

Learn more about tests to confirm the diagnosis

Comprehensive Disease & Shared Symptom Details

Identifying Symptoms in Infants

The severe symptoms and rapid disease progression in infants with Pompe disease make it especially urgent that they are accurately diagnosed as early as possible. Diseases that share signs and symptoms with Pompe disease in infants are listed in this table:^[^2-5^]

Learn more about Pompe disease signs and symptoms in infants

Diseases / Disorders	Shared Signs & Symptoms
Spinal muscular atrophy I (Acute Werdnig-Hoffman disease)	Poor muscle tone Muscle weakness – progressive (worsening over time) Absent reflexes Feeding difficulties High levels of creatine kinase (CK) enzyme in the blood
Hypothyroidism	Poor muscle tone Enlarged tongue
Congenital muscular dystrophy	Poor muscle tone - severe Muscle weakness
Danon disease	Heart disease Muscle tissue damage - skeletal muscle Glycogen accumulation in cells High levels of creatine kinase (CK) enzyme in the blood
Endocardial fibroelastosis	Breathlessness Feeding difficulties Enlarged heart Heart failure
Carnitine deficiency	Heart disease Muscle weakness
Glycogen storage diseases (GSD) III & IV	Enlarged liver Poor muscle tone Enlarged heart Muscle weakness High levels of creatine kinase (CK) enzyme in the blood
Idiopathic hypertrophic cardiomyopathy	Enlarged heart – especially lower chambers (ventricles)
Myocarditis	Enlarged heart
Mitochondrial/respiratory chain disorders	Enlarged liver Heart disease Muscle tissue damage High levels of creatine kinase (CK) enzyme in the blood
Peroxisomal disorders	Poor muscle tone Enlarged liver

Identifying Symptoms in Older Children & Adults

In older children and adults, the diagnosis of Pompe disease can be less obvious. Since symptoms may develop more gradually, it can be difficult to distinguish the disease from other more common conditions, such as various muscular dystrophies. Pompe disease shares signs and symptoms with the diseases listed in this table:^[^{2-4], [6], [7}^]

Learn more about Pompe disease signs and symptoms in older children and adults

Differential Diagnosis	Shared Signs & Symptoms
Limb girdle muscular dystrophy (LGMD)	Progressive (worsening over time) muscle weakness - in hips, legs, or shoulders Abnormal walk High levels of creatine kinase (CK) enzyme in the blood
Becker/Duchenne muscular dystrophy	Progressive (worsening over time) muscle weakness – around trunk of body Difficulty breathing Difficulty walking High levels of creatine kinase (CK) enzyme in the blood
Polymyositis	Progressive (worsening over time) muscle weakness – often on both sides of the body Difficulty swallowing High levels of creatine kinase (CK) enzyme in the blood
Mitochondrial myopathies	Poor muscle tone Poor reflexes Enlarged liver Difficulty participating in exercise Muscle weakness Headache Breathlessness High levels of creatine kinase (CK) enzyme in the blood (in some forms)
Carnitine deficiency	Progressive (worsening over time) muscle weakness – around trunk of body
Glycogen storage diseases (GSD) III & IV	Poor muscle tone Enlarged liver Muscle weakness High levels of creatine kinase (CK) enzyme in the blood (in some forms)
Glycogen storage disease (GSD) V	High levels of creatine kinase (CK) enzyme in the blood (in some forms) Muscle cramps during exercise Difficulty participating in exercise
Danon disease	Skeletal muscle tissue damage Progressive (worsening over time) muscle weakness High levels of creatine kinase (CK) an enzyme in the blood (in some forms)
Rheumatoid arthritis	Generalized weakness Stiffness Fatigue
Spinal muscular atrophy	Progressive (worsening over time) muscle weakness – sometimes only on one side of the body Muscle wasting High levels of creatine kinase (CK) enzyme in the blood (in some forms)
Kennedy’s disease	Difficulties speaking, chewing, and/or swallowing Difficulty breathing Difficulty swallowing High levels of creatine kinase (CK) enzyme in the blood (in some forms)
Amyotrophic lateral sclerosis (ALS)	Progressive (worsening over time) muscle weakness Difficulty breathing High levels of creatine kinase (CK) enzyme in the blood (in some forms)

References

Winchester B, Bali D, Bodamer OA et al. Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting. Mol Genet Metab 2007 1-7.
Kishnani PS, Steiner RD, Bali D et al. Pompe disease diagnosis and management guideline. Genet Med 2006 8:267-88.
Gilbert-Barness E. Review: Metabolic cardiomyopathy and conduction system defects in children. Ann Clin Lab Sci 2004 34:15-34.
Roe CR, Ding J. Mitochondrial Fatty Acid Oxidation Disorders. In: Scriver C, Beaudet A, Sly W, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease. New York, New York: McGraw-Hill, 2001.
Howell RR, Byrne B, Darras BT, Kishnani P, Nicolino M, van der Ploeg A. Diagnostic challenges for Pompe disease: An under-recognized cause of floppy baby syndrome. Genet Med 2006:8;1-8.
Gilchrist JM. Overview of neuromuscular disorders affecting respiratory function. Semin Respir Crit Care Med 2002 23:191-200.
Andres PL, Thibodeau LM, Finison LJ, Munsat TL. Quantitative assessment of neuromuscular deficit in ALS. Neurol Clin 1987 5:125-41.

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