Dystonia (generalized) and parkinsonism in pantothenate kinase-associated neurodegeneration

This 28-year-old woman presented at 11 years of age with toe walking. She has mild intellectual impairment, emotional difficulties, and anger control problems; severe hypokinetic dysarthria, hypophonia, and drooling; marked bradykinesia and rigidity in the neck and all extremities; postural tremor in both hands; facial, oromandibular, and truncal dystonia; and dystonic posturing of her hands, left worse than the right, with flexion of the metacarpophalangeal and distal interphalangeal joints. When she walks, her toes touch the ground before her heels due to dystonic muscle contractions. MRI of the brain shows hypointensity in the medial globus pallidus on T2-weighted images ("eye-of-the-tiger") and hyperintensity on T1 images consistent with pantothenate kinase-associated neurodegeneration (PKAN), formerly known as Hallervorden-Spatz syndrome. PKAN is caused by a mutation in the PANK2 gene (Schneider SA, Bhatia KP, Hardy J. Complicated recessive dystonia parkinsonism syndromes. Mov Disord 2009;24(4):490-9). This patient is a cousin of 2 other patients with PKAN, shown in other clips, the 32-year-old man with tongue protrusion and his teenage sister. (Contributed by Dr. Joseph Jankovic.)