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)
- 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
- Biotin-thiamine-responsive basal ganglia disease (DYT-SLC19A3)
- Dopamine-serotonin vesicular transport disease
- Acquired paroxysmal kinesigenic dyskinesia (PKD)
- Acquired paroxysmal non-kinesigenic dyskinesia (PNKD)
- Neurodegeneration with brain iron accumulation (NBIA), including pantothenate kinase-associated neurodegeneration (PKAN)
- Leukodystrophies/hypomyelinating disorders
- Aicardi-Goutieres syndrome (AGS)
Contributors
Authors
Kenneth Silver, MD, MSc

Pediatric Neurologist
Shriners Children’s Chicago
Chicago
IL
Disclosures
KS is an author of a reference cited in this topic and is a member of the medical advisory board for the Alternating Hemiplegia of Childhood Foundation, a non-profit organisation.
Sho Yano, MD, PhD
Pediatric Neurologist
Medical Geneticist
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
Suman Ghosh, MD, MPA
Associate Professor of Pediatrics
University of Florida
Gainesville
FL
Disclosures
SG declares that he has no competing interests.
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.
References
Key articles
van Egmond ME, Kuiper A, Eggink H, et al. Dystonia in children and adolescents: a systematic review and a new diagnostic algorithm. J Neurol Neurosurg Psychiatry. 2015 Jul;86(7):774-81.Full text Abstract
American Academy for Cerebral Palsy and Developmental Medicine. Cerebral palsy and dystonia. Apr 2024 [internet publication].Full text
Reference articles
A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
Guidelines
- Cerebral palsy and dystonia
- Clinical practice guidelines: medical/acute dystonic reaction
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