Pantothenate Kinase-Associated Neurodegeneration

**Semantic type:** Disease or Syndrome

**Definition:** A rare autosomal recessive inherited disorder caused by mutations in the PANK2 gene. It is characterized by abnormal accumulation of iron in the basal ganglia. Signs and symptoms include progressive motor disturbances, muscle spasm and rigidity, dysarthria, mental deterioration, and behavioral changes.

**Synonyms:** - HARP Syndrome - Hallervorden-Spatz Disease - Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration Syndrome - NBIA1 - Neuroaxonal Dystrophy, Late Infantile - PKAN Neuroaxonal Dystrophy, Juvenile-Onset - Pigmentary pallidal degeneration