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

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

At 5 years of age, this 17-year-old girl first exhibited hyperactivity and aggressive behavior, which were later associated with slow learning. At 10 years of age, left-foot dystonia appeared (the foot turning inward and downward), causing gait impairment. At 12 years of age, she developed abnormal posturing while writing ("writer's cramp") with wrist and finger flexion. At 15 years of age, she developed slowness in eating, chewing, and swallowing and unintelligible speech due to severe dysarthria. When attempting to walk, she has marked trunk flexion, scoliosis to the right, extension of both elbows, flexion of knees, and plantar flexion of both feet. She has restless movements and stereotypic touching of her ear and nose. She has difficulty sitting and prefers to lie in a fetal position. MRI showed hypointensity of the globus pallidus bilaterally ("eye-of-the-tiger" sign) on T2 images. DNA analysis confirmed mutation in the PANK2 gene. This girl is the cousin of the 28-year-old woman and sister of the 32-year-old man with tongue protrusion, who also have generalized dystonia due to PKAN and are shown on other clips. (The walking sequence is repeated to allow for complete narration.) (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