Summary
Definition
History and exam
Key diagnostic factors
- simultaneous contraction of agonist and antagonist muscles
- muscle pain
- appearance or worsening of dystonia with action
- blepharospasm
- cervical torticollis
- hand spasms
- foot spasms
Other diagnostic factors
- twisting of the affected body part
- geste antagoniste (sensory trick)
- spread to another body part
- parkinsonism
- myoclonus
- tremor, weakness, or spasticity
- Kayser-Fleischer rings on slit-lamp examination
- acute presentation (within 5 days of exposure to antidopaminergic agent)
- acute worsening of pre-existing generalized dystonia
Risk factors
- family history of dystonia
- repetitive activity of affected region
- birth injury and delayed development in childhood
- exposure to antidopaminergic drugs
- trauma
- genetic mutation
- Ashkenazi Jewish ethnicity
- structural lesion of the basal ganglia
- parkinsonian syndrome
Diagnostic tests
1st tests to order
- levodopa responsiveness
Tests to consider
- cranial magnetic resonance imaging
- serum ceruloplasmin
- 24-hour urine copper
- TOR1A (also known as DYT1) gene testing
- GCH1 gene testing
Treatment algorithm
acute dystonic reactions
generalized dystonia
focal dystonia: other than adult isolated foot
adult isolated foot dystonia
Contributors
Authors
Ludy C. Shih, MD, MMSc
Associate Professor of Neurology
Department of Neurology
Boston University School of Medicine
Boston
MA
Disclosures
LCS has been reimbursed by Medtronic, Praxis Precision Medicines, and WCG-Medavante for consulting services. LCS has received research grant funding from the National Institutes of Health, Abbott, and Praxis Precision Medicines.
Acknowledgements
Dr Ludy C. Shih would like to gratefully acknowledge Dr Samuel Frank, Dr David K. Simon, and Dr Daniel Tarsy, previous contributors to this topic.
Disclosures
SF is employed by the Beth Israel Deaconess Medical Center, which has received funding from Allergan to support partial fellowship training. 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
Divulgaciones
ZH has been a consultant for Allergan and a speaker for Novartis and TEVA.
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Referencias
Artículos principales
Lohmann K, Klein C. Update on the genetics of dystonia. Curr Neurol Neurosci Rep. 2017 Mar;17(3):26. Resumen
Albanese A, Asmus F, Bhatia KP, et al. EFNS guidelines on diagnosis and treatment of primary dystonias. Eur J Neurol. 2011 Jan;18(1):5-18.Texto completo Resumen
Simpson DM, Hallett M, Ashman EJ, et al. Practice guideline update summary: botulinum neurotoxin for the treatment of blepharospasm, cervical dystonia, adult spasticity, and headache. Report of the Guideline Development Subcommittee of the American Academy of Neurology. Neurology. 2016 Apr 18;86(19):1818-26.Texto completo Resumen
Artículos de referencia
Una lista completa de las fuentes a las que se hace referencia en este tema está disponible para los usuarios con acceso a todo BMJ Best Practice.
Diferenciales
- Athetoid or spastic cerebral palsy
- Huntington disease (HD)
- Parkinson disease (PD) or atypical parkinsonism
Más DiferencialesGuías de práctica clínica
- Pharmacological and neurosurgical management of cerebral palsy and dystonia: clinical practice guideline update
- Practice guideline update summary: Botulinum neurotoxin for the treatment of blepharospasm, cervical dystonia, adult spasticity, and headache
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