Three cases of multi ‐generational Pompe disease: Are current practices missing diagnostic and treatment opportunities?

In this report, we describe three families with multiple individuals in multiple generations affected by both infantile and late‐onset clinical presentations of Pompe disease. The presence of multi‐generational disease within these families highlights the importance of subsequent risk assessment through medical history and physical examination, with a low threshold for the screening of a proband's family members. We recommend enzymology (GAA activity assay) as the first screening method, as opposed to targeted mutation analysis, for at‐risk family members. Given that the initial symptoms of the slowly progressive late‐onset presentation of Pompe disease may be mild or non‐specific, enzymatic testing of all parents of affected infants should be considered.

Source: American Journal of Medical Genetics Part A - August 1, 2017 Category: Genetics & Stem Cells Authors: Paul McIntosh, Stephanie Austin, Jennifer Sullivan, Lauren Bailey, Carrie Bailey, David Viskochil, Priya S. Kishnani Tags: ORIGINAL ARTICLE Source Type: research