Diagnosis & Testing

Recognizing Pompe disease can be challenging, as its signs and symptoms are similar to those of other diseases and disorders. As a result, Pompe disease may not be readily considered during the clinical work up and significant diagnostic delays are common in many patients.[1]

Diagnostic Guidelines

The American Association of Neuromuscular and Electrodiagnostic Medicine (AANEM) has issued diagnostic guidelines for Pompe disease.

These guidelines recommend testing for Pompe disease should the following constellation occur[2]:

  • Limb-girdle (especially pelvic) weakness
  • Weakness of the paraspinal muscles
  • Mild scapular winging
  • Orthopnea

Early recognition and diagnosis are critical because Pompe disease is always progressive.

If you would like to read the complete AANEM diagnostic guidelines, you can search PubMed online (fees may apply).

Diagnostic Issues

Increased awareness of Pompe disease, its clinical signs and symptoms as well as the diagnostic methods is needed in order to help more timely diagnosis of patients suffering from Pompe disease.[3-4]

  • Differentiating Pompe disease from other disorders with similar symptoms can be challenging but is crucial to reducing diagnostic delays.
    Find out about common differential diagnoses
  • Once a clinical suspicion is raised, a quick, relatively inexpensive blood test can screen patients for Pompe disease by accurately quantifying GAA enzyme activity[5]  (actual diagnosis of Pompe must then be confirmed by another test method).
    Find out about the confirmatory tests for Pompe disease
  • The pathway to diagnosis can vary greatly depending on the individual patient, but diagnostic algorithms can assist in the process.
    Learn about the diagnostic paths in investigating the disease
  • As a genetic disorder, Pompe disease may also affect a patient’s family members, so it’s important to understand the options for family testing.

Diagnostic Delays

Since Pompe disease is rare and the signs and symptoms can mimic other disorders, the disease is often overlooked and diagnostic delays are common:

  • Infants experience an median delay of 2.7 months from onset of signs to diagnosis[5]
  • Among older patients, the delay can average 7-9 years[1]


Importance of Early Diagnosis

Recognizing Pompe disease can be challenging, as signs and symptoms may be heterogeneous and shared with other disorders. Early diagnosis is critical to optimizing disease management outcomes; however, the challenge of recognizing Pompe disease may result in delayed diagnosis. Because early diagnosis is very important, it is essential that physicians recognize how Pompe disease can present at different ages. The diagnostic pathway involves first recognizing the physical symptoms of Pompe disease, then performing specific laboratory tests, and finally, performing confirmatory tests (discussed below).

The time lag is much longer among older patients, whose clinical manifestations are more diverse and can emerge slowly. However, the disease continues to progress relentlessly, having a debilitating and often life-threatening impact. These patients may go undiagnosed for many years.

Pre-Symptomatic Pathology

In Pompe disease, glycogen accumulation generally begins before signs of clinical decline. Significant muscle pathology may precede symptomatology. Early diagnosis is critical for managing the disease in its earliest stages and optimizing patient outcomes.

In all cases, early intervention is crucial to managing symptoms and optimizing outcomes.


  1. Winkel LP, Hagemans ML, van Doorn PA, et al. The natural course of non-classic Pompe’s disease; a review of 225 published cases. J Neurol 2006; 252:875-84.
  2. Al-Lozi M, Amato A, Barohn R, Cupler E, Kishnani P, Leshner R, et al. Diagnostic criteria for late-onset (childhood and adult) pompe disease. Muscle Nerve 2009;40:149-60. 
  3. Kishnani PS, Steiner RD, Bali D, et al. Pompe disease diagnosis and management guideline. Genet Med 2006; 8:267-88.
  4. Oba-Shinjo S, da Silva R, Andrade F, et al. Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations. J Neurol 2009;256(11):1881-90. Epub 2009 Jul 9.
  5. 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.
  6. Kishnani PS, Hwu W-L, Mandel H, Nicolino M, Yong F, Corzo D. A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. J Pediatr 2006; 148:671-676.

Find Diagnostic Labs

Get a list of laboratories that can perform enzyme assays and other useful tests to aid in the diagnosis of Pompe disease.

Download Lab List
(Intended for the U.S. only)

Ask a Medical Question

Genzyme Medical Information can answer questions about Pompe disease.

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