Pompe disease rates vary by region; ethnicity seen playing role

Pompe disease rates vary by region; ethnicity seen playing role

Estimates of the number people diagnosed with Pompe disease vary widely across regions, with notably higher rates in populations of African descent, a study review found. The researchers attributed the variability to underlying genetic differences as well as inconsistencies in diagnostic criteria, newborn screening methods, and disease classification depending on geographic region, factors that make it difficult to estimate Pompe disease rates w…