The path to a Pompe diagnosis can be long. Learn about the typical steps, key tests and how to speed up the process.
Pompe disease is a rare disorder affecting approximately 1 in 40,000 people. Its symptoms: muscle weakness, fatigue, breathing difficulty: overlap with many other conditions. The average time from first symptoms to diagnosis can exceed 5 years in late-onset Pompe disease (LOPD).
This delay is due to the low prevalence, lack of familiarity among many healthcare professionals, and variability of symptoms depending on age of onset.
Consult your doctor if you have a combination of:
• Progressive muscle weakness, especially in the pelvic girdle and trunk
• Difficulty climbing stairs, getting up from a chair or walking
• Fatigue disproportionate to exertion
• Breathing difficulty, especially when lying down (orthopnea)
• Recurrent muscle pain
• Elevated CK (creatine kinase) levels in blood tests
A Pompe diagnosis is confirmed through:
1. **Dried blood spot test (DBS)**: Measures GAA enzyme activity in dried blood. It is the first screening step: quick and non-invasive.
2. **Enzyme assay in leukocytes or fibroblasts**: Confirms GAA deficiency with greater precision.
3. **Genetic analysis (GAA gene)**: Identifies the specific mutations. Essential for family genetic counseling.
4. **Muscle biopsy**: In some cases it may reveal glycogen accumulation, although it is not always necessary when the previous tests are available.
If you suspect you may have Pompe, request a referral to:
• **Neurology**: For evaluation of muscle weakness
• **Pulmonology**: If you have respiratory problems
• **Rare or neuromuscular disease units**: Specialized centers with Pompe experience
In the Patient Associations section you can find organizations that can guide you to reference centers in your country.
Clinical suspicion
Proximal muscle weakness, hyperCKemia, disproportionate respiratory insufficiency
DBS test (dried blood spot)
GAA activity measurement: fast, minimally invasive
Genetic confirmation
GAA gene sequencing: two pathogenic variants in trans
Diagnosis established
Referral to a specialist centre + baseline multidisciplinary assessment
Newborn Screening (NBS) makes it possible to identify Pompe disease in the first hours of life, before symptoms appear. It is performed on the same Guthrie card as other metabolic disorders, measuring the activity of the GAA enzyme. In the USA it has been part of the mandatory panel (RUSP) since 2015; in Spain it is not included in the national panel, although there are regional initiatives and the scientific debate remains active.
NBS introduces a new clinical category: «patients in waiting» — people with biochemical and genetic confirmation of Pompe who remain asymptomatic, often for years. This situation creates clinical uncertainty and a psychosocial burden for families, and requires a structured longitudinal monitoring plan (muscle function, respiratory function, biomarkers) instead of waiting for symptoms to appear. The decision to start treatment in asymptomatic LOPD must be individualised with the specialist team.
Bibliography under review by the Foundation's clinical team.
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