Summary
Definition
History and exam
Key diagnostic factors
- história familiar de doença de Huntington positiva
- expansão conhecida da extensão da repetição de citosina-adenina-guanina (CAG) no fim da região N-terminal do gene da huntingtina
- desempenho comprometido no trabalho ou na escola
- alteração de personalidade
- irritabilidade e impulsividade
- coreia
- espasmos ou agitação
- perda de coordenação
- deficit da coordenação motora fina
- lentidão no movimento ocular rápido (movimento sacádico)
- impersistência motora
- marcha em tandem comprometida
Other diagnostic factors
- comprometimento da concentração/ansiedade ou apatia na realização de tarefas
- declínio cognitivo em relação ao cônjuge/irmãos
- alterações dos hábitos pessoais/higiene
- desinibição ou comportamento ansioso incomum
- depressão, obsessões e compulsões
Risk factors
- expansão da extensão da repetição de citosina-adenina-guanina (CAG) no fim da região N-terminal do gene da huntingtina
- outros fatores genéticos
- história familiar
Diagnostic investigations
1st investigations to order
- nenhum teste inicial
Investigations to consider
- teste de repetição de citosina-adenina-guanina (CAG)
- ressonância nuclear magnética (RNM) ou tomografia computadorizada (TC)
Treatment algorithm
todos os pacientes
Contributors
Authors
Mitsuko Nakajima MD, MD
Clinical Research Fellow
Huntington's Disease Centre
Queen Square Institute of Neurology
Department of Neurodegenerative Disease
Russell Square House
London
UK
Disclosures
MN declares no competing interests.
Acknowledgements
Dr Mitsuko Nakajima would like to gratefully acknowledge Dr Peter McColgan, Dr Sarah Tabrizi, Dr David Craufurd, Dr Marianne Novak, and Dr Francis Walker, previous contributors to this topic.
Disclosures
FW declared that he had no competing interests. MN is an author of a reference cited in this topic. DC has received fees for advisory board membership from Hoffmann-La Roche Ltd. SJT has received grant funding for her research from CHDI Foundation, the BBSRC, Dementia and Neurodegenerative Disease Network UK, European Huntington’s Disease Network, Huntington’s Disease Association of the UK, the Medical Research Council UK, Takeda Pharmaceuticals, the UCL/UCLH Biomedical Research Centre, and the Wellcome Trust. SJT has been on advisory boards or had consultancies with F. Hoffmann-La Roche Ltd, Ixico Technologies, Shire Human Genetic Therapies, Takeda Pharmaceuticals International, and TEVA Pharmaceuticals; all honoraria for these consultancies and advisory boards were paid to UCL. Through the offices of UCL Consultants Ltd, a wholly owned subsidiary of UCL, SJT has undertaken consultancy services for F. Hoffmann-La Roche Ltd and GSK. ST is also an author of references cited in this topic PM declared that he had no competing interests.
Peer reviewers
Adrian Priesol, MD, FRCPC
Instructor
Massachusetts Eye and Ear Infirmary
Harvard Medical School
Boston
MA
Disclosures
AP declares that he has no competing interests.
Tiago Mestre, MD, MSc
Resident Neurology
Neurological Clinical Research Unit
Institute of Molecular Medicine
Lisbon
Portugal
Disclosures
TM declares that he has no competing interests.
Differentials
- Discinesia tardia
- Atrofia dentato-rubro-palido-luisiana (ADRPL)
- Neuroacantocitose
More DifferentialsGuidelines
- Clinical guidance in neuropalliative care: an AAN position statement
- Clinical recommendations to guide physical therapy practice for Huntington disease
More GuidelinesPatient information
Depressão em adultos: o que é?
Doença de Huntington
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