Resumo
Definição
História e exame físico
Principais fatores diagnósticos
- simultaneous contraction of agonist and antagonist muscles
- muscle pain
- appearance or worsening of dystonia with action
- blepharospasm
- cervical torticollis
- hand spasms
- foot spasms
Outros fatores diagnósticos
- 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
Fatores de risco
- 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
Investigações diagnósticas
Primeiras investigações a serem solicitadas
- levodopa responsiveness
Investigações a serem consideradas
- cranial magnetic resonance imaging
- serum ceruloplasmin
- 24-hour urine copper
- TOR1A (also known as DYT1) gene testing
- GCH1 gene testing
Algoritmo de tratamento
acute dystonic reactions
generalized dystonia
focal dystonia: other than adult isolated foot
adult isolated foot dystonia
Colaboradores
Autores
Ludy C. Shih, MD, MMSc
Associate Professor of Neurology
Department of Neurology
Boston University School of Medicine
Boston
MA
Declarações
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.
Agradecimentos
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.
Declarações
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.
Revisores
Patricia Dowsey Limousin, MD, PhD
Reader in Clinical Neurology
Honorary Consultant
Institute of Neurology
National Hospital for Neurology and Neurosurgery
London
UK
Declarações
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
Declarações
ZH has been a consultant for Allergan and a speaker for Novartis and TEVA.
Créditos aos pareceristas
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Declarações
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Referências
Principais artigos
Lohmann K, Klein C. Update on the genetics of dystonia. Curr Neurol Neurosci Rep. 2017 Mar;17(3):26. Resumo
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 Resumo
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 Resumo
Artigos de referência
Uma lista completa das fontes referenciadas neste tópico está disponível para os usuários com acesso total ao BMJ Best Practice.
Diagnósticos diferenciais
- Athetoid or spastic cerebral palsy
- Huntington disease (HD)
- Parkinson disease (PD) or atypical parkinsonism
Mais Diagnósticos diferenciaisDiretrizes
- Practice guideline update summary: Botulinum neurotoxin for the treatment of blepharospasm, cervical dystonia, adult spasticity, and headache
Mais Diretrizes
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