ICD-10 Code E74.02 – Pompe disease (2026): Diagnosis, Symptoms & Billing Guide
2026 ICD-10-CM Diagnosis Code E74.02 – Pompe disease
What it is
E74.02 identifies Pompe disease, a rare inherited glycogen storage disorder caused by acid alpha-glucosidase deficiency. It leads to abnormal glycogen buildup, mainly affecting muscle tissue.
Clinical signs
Clinical features vary; refer to documentation. Common findings include progressive muscle weakness, hypotonia, cardiomyopathy in infantile-onset disease, and respiratory involvement in later-onset forms.
When to use this code
Use E74.02 when the provider documents Pompe disease, glycogen storage disease type II, or acid alpha-glucosidase deficiency. Apply it for confirmed diagnoses, including infantile-onset and late-onset forms, when the record clearly supports the condition.
Do not use for
Do not use this code for nonspecific muscle weakness, cardiomyopathy, or suspected metabolic disease without a documented Pompe diagnosis. Check documentation if the chart only notes carrier status or family history.
Coding tip
Code the documented disease name, not just the presenting symptoms, and verify whether the record specifies infantile or late-onset disease.