200 patients have been diagnosed, worldwide, to date. We believe there are many more undiagnosed patients. A study just published estimates the prevalence of APBD at the gene level at 3,400 for Ashkenazi Jews 50 years or over in the US.
APBD is pan-ethnic, but is diagnosed most frequently in people of Ashkenazi Jewish ancestry. It is frequently misdiagnosed as multiple sclerosis, cerebral small vessel disease, amyotrophic lateral sclerosis, or peripheral neuropathies.
The diagnostic delays and misdiagnoses in our community tell us we need to work with the MS, neuropathy, and other neurodegenerative communities that experience similar symptoms. Effective symptom management by an interdisciplinary team of healthcare professionals is one of the key components of comprehensive APBD care.