APBD is a rare condition. Recently, Dr. Ruth Kornreich of Mount Sinai Medical Center in NYC found a 1:48 carrier frequency for either of the two most common APBD mutations [1) p.Y329S and (2)Dr. Akman’s recently discovered intronic mutation]. These findings were enough to motivate Mount Sinai Medical Center to add APBD to a list of 58 Ashkenazi Jewish diseases on their prenatal screen panel.

Although its exact prevalence is unknown, at least 160 cases have been identified as of December 2015. The disease is concentrated in Ashkenazi Jews.

But it is often misdiagnosed for MS, ALS, prostate disease (men) or other ailments—leading to much frustration, inappropriate medications, and even useless surgeries. Unknowingly, thousands may have APBD. Source: Adult Polyglucosan Body Disease Research Foundation (APBDRF)