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.
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
- cervical torticollis
- hand spasms
- foot spasms
- acute presentation (within 5 days of exposure to antidopaminergic agent)
- acute worsening of pre-existing generalised dystonia
Other diagnostic factors
- twisting of the affected body part
- geste antagoniste (sensory trick)
- spread to another body part
- tremor, weakness, or spasticity
- reflex sympathetic dystrophy
- Kayser-Fleischer rings on slit-lamp examination
- family history of dystonia
- repetitive activity of affected region
- birth injury and delayed development in childhood
- exposure to antidopaminergic agents
- genetic mutation
- Ashkenazi Jewish ethnicity
- structural lesion of the basal ganglia
- parkinsonian syndrome
1st investigations to order
- levodopa responsiveness
Investigations to consider
- cranial magnetic resonance imaging
- serum ceruloplasmin
- 24-hour urine copper
- DYT1 gene testing
- GCH1 gene testing
acute dystonic reactions
focal dystonia: other than adult isolated foot
adult isolated foot dystonia
Samuel Frank, MD
Associate Professor of Neurology
Parkinson's Disease and Movement Disorders Center
Beth Israel Deaconess Medical Center
SF is employed by the Beth Israel Deaconess Medical Center, which has received funding from Allergan to support partial fellowship training.
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.
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.
Patricia Dowsey Limousin, MD, PhD
Reader in Clinical Neurology
Institute of Neurology
National Hospital for Neurology and Neurosurgery
PDL declares that she has no competing interests.
Zhigoa Huang, MD, PhD
Movement Disorder Center
Dept of Neurology
University of Florida
ZH has been a consultant for Allergan and a speaker for Novartis and TEVA.
- Athetoid or spastic cerebral palsy
- Huntington's disease (HD)
- Parkinson's disease (PD) or atypical parkinsonism
- EFNS guidelines on diagnosis and treatment of primary dystonias
- Botulinum neurotoxin for the treatment of movement disorders
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