PKAN

(Pantothenate Kinase-Associated Neurodegeneration)

PKAN is a genetic neurodegenerative disease caused by a mutation in the PANK2 gene. This mutation disrupts energy production within brain cells, leading to iron buildup in a region called the globus pallidus. As the disease progresses, children experience increasing muscle rigidity, dystonia, loss of voluntary movement, difficulty speaking, and eventually challenges with eating and mobility. PKAN is exceptionally rare, and while treatments exist to help manage symptoms, there is currently no cure.

PKAN affects an estimated 1–3 people per million worldwide, making it one of the rarest neurodegenerative disorders known. Most children with PKAN begin showing symptoms between ages 1 and 6, though later-onset cases can appear in adolescence or adulthood. Because PKAN is caused by mutations in the PANK2 gene and inherited in an autosomal recessive pattern, both parents must be carriers for a child to be affected—though most families are unaware of their carrier status until diagnosis. The disease leads to progressive motor impairment, including dystonia, muscle rigidity, difficulty walking, and loss of speech. PKAN accounts for the majority of conditions once grouped under NBIA (Neurodegeneration with Brain Iron Accumulation), representing roughly 35–50% of all NBIA cases. Due to its rarity, diagnostic delays are common, research funding is limited, and families often navigate a complex medical landscape with few specialists familiar with the condition.