WHAT IS BPAN?

BPAN (Beta-propeller Protein-associated Neurodegeneration) is a rare disease characterized by progressive damage to the nervous system resulting from mutations in the gene WDR45. Children with BPAN experience intellectual disability, seizures, difficulty coordinating movements such as walking, and developmental delays. As the disease worsens, patients display cognitive decline and dementia, experience greater difficulty walking, and can develop tremors which impair motor skills. Symptoms typically appear in childhood. Affected people will begin to regress in adolescence or early adulthood and cannot regain the skills that were lost. The average lifespan for individuals with BPAN varies with some living into middle age with proper management of symptoms.