Last reviewed: 23 Sep 2021
Last updated: 08 May 2019

Summary

Differentials

Common

  • Transient idiopathic dystonia of infancy
  • Benign paroxysmal torticollis of infancy
  • Congenital torticollis
  • Primary paroxysmal kinesigenic dyskinesia (PKD)
  • Drug-related dystonia
  • Dyskinetic cerebral palsy
  • Post-traumatic dystonia
  • Non-fatal drowning
  • Primary stereotypies
  • Secondary stereotypies
  • Secondary infantile torticollis (SIT)
  • Seizure

Uncommon

  • Primary paroxysmal non-kinesigenic dyskinesia (PNKD)
  • Alternating hemiplegia of childhood (AHC)
  • DYT-TOR1A (primary torsion dystonia)
  • Dopa-responsive dystonia (Segawa syndrome, dystonia-parkinsonism with diurnal fluctuation)
  • Paroxysmal exercise-induced dyskinesia glucose transporter 1 (GLUT1) 
  • Dopamine transporter deficiency syndrome (DYT/PARK-SLC6A3, infantile parkinsonism-dystonia)
  • DYT-SGCE (myoclonus-dystonia syndrome)
  • ADCY5-related dyskinesia (CHOR-DYT/ADCY5)
  • Kernicterus
  • Glutaric aciduria type I (glutaryl-CoA dehydrogenase [GCDH] deficiency)
  • Methylmalonic acidaemia
  • Lesch-Nyhan syndrome
  • Infantile GM2 gangliosidosis (Tay-Sachs and Sandhoff's disease)
  • Mitochondrial encephalomyopathies
  • Allan-Herndon-Dudley syndrome (X-linked monocarboxylate transporter 8 deficiency)
  • Biotin-thiamine-responsive basal ganglia disease (DYT-SLC19A3)
  • Dopamine-serotonin vesicular transport disease
  • Hypermanganesaemia
  • Acquired paroxysmal kinesigenic dyskinesia (PKD)
  • Acquired paroxysmal non-kinesigenic dyskinesia (PNKD)
  • Neurodegeneration with brain iron accumulation (NBIA), including pantothenate kinase-associated neurodegeneration (PKAN)
  • ARX-related disorders including infantile epileptic-dyskinetic encephalopathy
  • Leukodystrophies/hypomyelinating disorders
  • Aicardi-Goutieres syndrome (AGS)
  • Other inherited neurodegenerative disorders with dystonia
  • Paroxysmal tonic upgaze of infancy

Contributors

Authors

Kenneth Silver, MD, MSC
Kenneth Silver

Pediatric Neurologist

Shriners Hospital for Children, Chicago

Clinical Associate

Department of Pediatrics and Neurology

University of Chicago

Chicago

IL

Disclosures

KS is an author of a reference cited in this topic.

Sho Yano, MD, PhD

Physician

Pediatric Neurology

University of Chicago

Chicago

IL

NIH Medical Genetics & Genomics Residency

National Human Genome Research Institute

National Institutes of Health

Bethesda

MD

Disclosures

SY is a member of the medical advisory board for the Alternating Hemiplegia of Childhood Foundation, a non-profit organisation.

Acknowledgements

The authors wish to acknowledge the contribution of Muruvet Elkay, MD to this topic.

Disclosures

ME declares that she has no competing interests.

Peer reviewers

Joanna Blackburn, MD

Assistant Professor

Pediatrics (Neurology and Epilepsy)

Ann & Robert H. Lurie Children’s Hospital of Chicago

Chicago

IL

Disclosures

JB declares that she has no competing interests.

John Mink, MD, PhD

Associate Professor

Neurobiology, Anatomy and Pediatrics

University of Rochester

Strong Memorial Hospital

Rochester

NY

Disclosures

JM is an author of a number of references cited in this topic.

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