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Suspect-and-test checklist

Pompe disease

Autosomal recessive. Late-onset disease can start at any age, often with breathing out of proportion to weakness.

ICD-10-CME74.02Trial Friend for Clinicians

1Red flags present

Muscle

Breathing

Labs

Other

Infants

2Already labeled as

3Family to test

4Testing, in the order the sources describe

  1. CK, AST, ALT and LDHRaised in most patients, but a normal CK does not exclude late-onset disease.
    Result
  2. EMG and nerve conduction, including paraspinal musclesElectrical myotonia without clinical myotonia, especially paraspinal, is highly suggestive.
    Result
  3. Dried blood spot GAA activityRepeat a positive result. A negative result points toward other muscle disorders.
    Result
  4. Confirm GAA activityLeukocytes or lymphocytes, fibroblasts (4 to 6 weeks) or muscle.
    Result
  5. GAA gene sequencingVariants in both copies establish the diagnosis. One or no variant: deletion/duplication analysis.
    Result
  6. Urinary Hex4Supporting test; less sensitive in late-onset disease.
    Result
  7. Infants: echo, ECG and CRIM statusEcho and CK after an out-of-range screen; CRIM status before enzyme therapy.
    Result

5Results the sources say do not rule it out

  • Normal CK, normal EMG or a normal muscle biopsy. None excludes late-onset Pompe disease.
  • Pseudodeficiency alleles c.1726G>A and c.2065G>A, common in Asian ancestry, skew enzyme results.
  • Neutrophils in a lymphocyte sample can give a falsely normal result.
  • One pathogenic variant plus a VUS neither confirms nor rules out the diagnosis.

6Specialists the sources name

Diagnosis code: E74.02 Pompe diseaseCodes patients often carry before diagnosis are listed in the online guide.
Full guide and sourcesEvery point here is sourced in the online guide, which also has a patient note to print.
Trial Friend, trialfriend.com/for-clinicians. Key sources: GeneReviews (2025); Turkish neurology consensus (2023); Acta Myologica diagnostic algorithm (2013); all 8 with links in the online guide. Checked November 8, 2026. A reference checklist for licensed clinicians that summarizes published sources. It is not a diagnostic tool, a score or a protocol, and it does not replace clinical judgment, local practice or the prescribing information. Not coding advice. Trial Friend never receives anything written or typed on this sheet. The author has done professional work for companies whose products are discussed in this article. No company reviewed, paid for or had any input into it.