Assessment of infantile dystonia

最后审阅: 18 Jun 2025
最后更新: 04 Jul 2025

小结

鉴别诊断

常见

  • 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
完整详情

不常见

  • 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)
完整详情

撰稿人

作者

Kenneth Silver, MD, MSc
Kenneth Silver

Pediatric Neurologist

Shriners Children’s Chicago

Chicago

IL

利益声明

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

利益声明

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

鸣谢

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

利益声明

ME declares that she has no competing interests.

同行评议者

Suman Ghosh, MD, MPA

Associate Professor of Pediatrics

University of Florida

Gainesville

FL

利益声明

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

利益声明

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

利益声明

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

参考文献

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关键文献

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.全文  摘要

American Academy for Cerebral Palsy and Developmental Medicine. Cerebral palsy and dystonia. Apr 2024 [internet publication].​全文

参考文献

A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.

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