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
- Nonfatal drowning
- Primary stereotypies
- Secondary stereotypies
- Secondary infantile torticollis (SIT)
- Seizure
Uncommon
- Primary paroxysmal nonkinesigenic 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 acidemia
- Lesch-Nyhan syndrome
- Infantile GM2 gangliosidosis (Tay-Sachs and Sandhoff 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
- Hypermanganesemia
- Acquired paroxysmal kinesigenic dyskinesia (PKD)
- Acquired paroxysmal nonkinesigenic 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

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 nonprofit organization.
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.
Use of this content is subject to our disclaimer