BPAN is considered an ultra-rare disorder with an estimated prevalence of about 2-3 / million. Individuals with BPAN have developmental delay and intellectual disability, significantly impaired expressive language, early-onset seizures of varying types, and motor dysfunction (movement problems). After remaining stable during childhood and often early adulthood, a period of regression with parkinsonism and progressive cognitive decline is common. In most cases, a new change in the WDR45 gene that is not inherited is the cause BPAN. Rarely, it is inherited from a parent who may or may not have any symptoms. Treatment is symptomatic and varies based on age and the stage of disease. For information about the complicated genetics of BPAN and other useful information, visit http://nbiacure.org/learn/nbia-disorders/bpan/.
WDR45