Dystonias

Last reviewed: 28 Apr 2022
Last updated: 30 Jan 2019

Summary

Definition

History and exam

Key diagnostic factors

  • presence of risk factors
  • simultaneous contraction of agonist and antagonist muscles
  • muscle pain
  • appearance or worsening of dystonia with action
  • blepharospasm
  • cervical torticollis
  • hand spasms
  • foot spasms
  • acute presentation (within 5 days of exposure to antidopaminergic agent)
  • acute worsening of pre-existing generalised dystonia
More key diagnostic factors

Other diagnostic factors

  • twisting of the affected body part
  • geste antagoniste (sensory trick)
  • spread to another body part
  • parkinsonism
  • myoclonus
  • tremor, weakness, or spasticity
  • reflex sympathetic dystrophy
  • Kayser-Fleischer rings on slit-lamp examination
Other diagnostic factors

Risk factors

  • family history of dystonia
  • repetitive activity of affected region
  • birth injury and delayed development in childhood
  • exposure to antidopaminergic agents
  • trauma
  • genetic mutation
  • Ashkenazi Jewish ethnicity
  • structural lesion of the basal ganglia
  • parkinsonian syndrome
More risk factors

Diagnostic investigations

1st investigations to order

  • levodopa responsiveness
More 1st investigations to order

Investigations to consider

  • cranial magnetic resonance imaging
  • serum ceruloplasmin
  • 24-hour urine copper
  • DYT1 gene testing
  • GCH1 gene testing
More investigations to consider

Treatment algorithm

ACUTE

acute dystonic reactions

ONGOING

generalised dystonia

focal dystonia: other than adult isolated foot

adult isolated foot dystonia

Contributors

Authors

Samuel Frank, MD

Associate Professor of Neurology

Parkinson's Disease and Movement Disorders Center

Beth Israel Deaconess Medical Center

Boston

MA

Disclosures

SF is employed by the Beth Israel Deaconess Medical Center, which has received funding from Allergan to support partial fellowship training.

Acknowledgements

Dr Samuel Frank would like to gratefully acknowledge Dr Ludy C. Shih, Dr David K. Simon, and Dr Daniel Tarsy, previous contributors to this topic.

Disclosures

LCS is now an employee of Biogen, Inc. and has received funding from the NIH Dystonia Coalition project for participant enrolment. DKS has received consulting fees from the Gerson Lehrman Group. DKS is an author of a reference cited in this topic. DT has received an unrestricted grant from Allergan and Medtronic being used for education. He received unrestricted funds for patient education from Allergan, Boehringer Ingelheim, Valeant, and Teva Neurosciences. He has received research funds from Solvay and Neurogen. DT is an author of a number of references cited in this topic.

Peer reviewers

Patricia Dowsey Limousin, MD, PhD

Reader in Clinical Neurology

Honorary Consultant

Institute of Neurology

National Hospital for Neurology and Neurosurgery

London

UK

Disclosures

PDL declares that she has no competing interests.

Zhigoa Huang, MD, PhD

Assistant Professor

Director

Movement Disorder Center

Dept of Neurology

University of Florida

Tampa

FL

Disclosures

ZH has been a consultant for Allergan and a speaker for Novartis and TEVA.

  • Dystonias images
  • Differentials

    • Athetoid or spastic cerebral palsy
    • Huntington's disease (HD)
    • Parkinson's disease (PD) or atypical parkinsonism
    More Differentials
  • Guidelines

    • EFNS guidelines on diagnosis and treatment of primary dystonias
    • Botulinum neurotoxin for the treatment of movement disorders
    More Guidelines
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