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

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 et al 2009). 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.)

Associated Disorders

  • Abetalipoproteinemia
  • Antiphospholipid syndrome
  • Ataxia telangiectasia
  • Ataxia with CoQ10 deficiency
  • Ataxia with vitamin E deficiency
  • Athetosis
  • Ballism
  • Benign developmental movement disorders
  • Benign hereditary chorea
  • Benign idiopathic dystonia of infancy
  • Benign neonatal sleep myoclonus
  • Benign paroxysmal torticollis
  • Bobble-head doll syndrome
  • Bradykinesia
  • Cerebral palsy
  • Chorea
  • Cortical myoclonus
  • Dopa-responsive dystonia
  • Drug-induced movement disorders
  • Drug-induced myoclonus
  • Essential tremor
  • Focal dystonia
  • Friedrich ataxia
  • Galactosemia
  • Generalized dystonia
  • Geniospasm
  • Glutaric aciduria
  • Gluten-associated ataxia
  • Hartnup disease
  • Head-nodding
  • Infantile shuddering attacks
  • Jitteriness
  • Juvenile Huntington disease
  • Juvenile neuronal ceroid lipofuscinosis
  • Juvenile parkinsonism
  • Leigh syndrome
  • Lesch-Nyhan disease
  • Methylmalonic acidemia
  • Miller-Fischer syndrome
  • Myoclonus-dystonia
  • Neuroacanthocytosis
  • Neurodegeneration with brain iron accumulation
  • Niemann Pick C
  • Oculogyric crisis
  • Oppenheimer dystonia
  • Opsoclonus myoclonus
  • Paroxysmal exertional dyskinesia
  • Paroxysmal kinesigenic dyskinesia
  • Paroxysmal tonic upgaze of infancy
  • Phenylketonuria
  • Physiologic myoclonus
  • Post-infectious chorea
  • Post-pump chorea
  • Postinfectious cerebellitis
  • Postinfectious myoclonus
  • Provisional tic disorder (Transient tic disorder)
  • Refsum disease
  • Restless legs syndrome
  • Sandifer syndrome
  • Self-stimulatory behavior
  • Spasmus nutans
  • Spinal myoclonus
  • Stereotypies
  • Sydenham chorea
  • Tardive dyskinesia
  • Tic disorders
  • Tourette syndrome
  • Tyrosine hydroxylase deficiency
  • Wernicke encephalopathy
  • Wilson disease
  • Withdrawal emergent syndrome