Dystonias

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Last reviewed: May 2019

Last updated: January 2019

Summary

Movement disorder characterised by sustained involuntary muscle contractions and abnormal postures of the trunk, neck, face, or extremities.

The involuntary movements are associated with simultaneous contraction of agonist and antagonist muscles, with unwanted 'overflow' contraction of adjacent muscles.

In some cases, pain in the affected muscles can be a prominent feature.

Dystonia may improve with simple 'sensory tricks' such as lightly touching the affected body part (geste antagoniste).

Can be generalised or focal, primary (with no other neurological abnormalities), or secondary to a structural lesion.

Dopa-responsive dystonias, although rare, should always be considered if generalised, as levodopa is dramatically effective in these situations.

Treatment is symptomatic. Agents include anticholinergics, antispasmodics, and botulinum toxin. Deep brain stimulation may be used in severe, refractory cases. Physiotherapy is recommended.

Definition

Dystonia is a movement disorder characterised by sustained involuntary contractions of agonist and antagonist muscles, often leading to repetitive twisting movements and abnormal postures of the trunk, neck, face, or extremities. It is often associated with unwanted 'overflow' contraction of adjacent muscles.

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

Full details

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

Full details

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

Full details

Diagnostic investigations

1st investigations to order

levodopa responsiveness

Full details

Investigations to consider

cranial magnetic resonance imaging
serum ceruloplasmin
24-hour urine copper
DYT1 gene testing
GCH1 gene testing

Full details

Treatment algorithm

ACUTE

acute dystonic reactions

ONGOING

generalised dystonia

focal dystonia: other than adult isolated foot

adult isolated foot dystonia

Contributors

Authors VIEW ALL 

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.

Peer reviewers VIEW ALL 

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.

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