Evaluation of infantile dystonia

Последний просмотренный: 16 Aug 2025
Last updated: 04 Jul 2025

Resumo

Diagnósticos diferenciais

comuns

  • 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
Detalhes completos

Incomuns

  • 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)
  • 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
  • Biotin-thiamine-responsive basal ganglia disease (DYT-SLC19A3)
  • Dopamine-serotonin vesicular transport disease
  • Acquired paroxysmal kinesigenic dyskinesia (PKD)
  • Acquired paroxysmal nonkinesigenic dyskinesia (PNKD)
  • Neurodegeneration with brain iron accumulation (NBIA), including pantothenate kinase-associated neurodegeneration (PKAN)
  • Leukodystrophies/hypomyelinating disorders
  • Aicardi-Goutieres syndrome (AGS)
Detalhes completos

Colaboradores

Autores

Kenneth Silver, MD, MSc
Kenneth Silver

Pediatric Neurologist

Shriners Children’s Chicago

Chicago

IL

Declarações

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 nonprofit organization.

Sho Yano, MD, PhD

Pediatric Neurologist

Medical Geneticist

Bethesda

MD

Declarações

SY is a member of the medical advisory board for the Alternating Hemiplegia of Childhood Foundation, a nonprofit organization.

Agradecimentos

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

Declarações

ME declares that she has no competing interests.

Revisores

Suman Ghosh, MD, MPA

Associate Professor of Pediatrics

University of Florida

Gainesville

FL

Declarações

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

Declarações

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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Peer reviewer affiliations and disclosures pertain to the time of the review.

References

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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

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