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Doença de Huntington

  • 概述
  • 理论
  • 诊断
  • 治疗
  • 随访
  • 资源
Last reviewed: 22 Aug 2025
Last updated: 16 May 2025

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
Full details

Other diagnostic factors

  • comprometimento da concentração/ansiedade ou apatia na realização de tarefas
  • declínio cognitivo em relação ao parceiro/irmãos
  • alterações dos hábitos pessoais/higiene
  • desinibição ou comportamento ansioso incomum
  • depressão, obsessões e compulsões
  • perturbação do sono
Full details

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
Full details

Diagnostic tests

1st tests to order

  • nenhum teste inicial
Full details

Tests to consider

  • teste genético para expansão de repetição de citosina-adenina-guanina (CAG)
  • ressonância nuclear magnética (RNM) ou tomografia computadorizada (TC)
Full details

Treatment algorithm

ONGOING

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 is funded by the clinical fellowship scheme from the Huntington's Disease Society of America, a non-profit organisation that funds research into Huntington's disease. There is no contractual agreement to disseminate product information.

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.

Peer reviewer acknowledgements

BMJ Best Practice topics are updated on a rolling basis in line with developments in evidence and guidance. The peer reviewers listed here have reviewed the content at least once during the history of the topic.

Disclosures

Peer reviewer affiliations and disclosures pertain to the time of the review.

References

Our in-house evidence and editorial teams collaborate with international expert contributors and peer reviewers to ensure that we provide access to the most clinically relevant information possible.

Key articles

Bean L, Bayrak-Toydemir P; American College of Medical Genetics and Genomics. Standards and guidelines for clinical genetics laboratories, 2014 edition: technical standards and guidelines for Huntington disease. Genet Med. 2014 Dec;16(12):e2.Full text  Abstract

Anderson KE, van Duijn E, Craufurd D, et al. Clinical management of neuropsychiatric symptoms of Huntington disease: expert-based consensus guidelines on agitation, anxiety, apathy, psychosis and sleep disorders. J Huntingtons Dis. 2018;7(3):355-66.Full text  Abstract

Bachoud-Lévi AC, Ferreira J, Massart R, et al. International guidelines for the treatment of Huntington's disease. Front Neurol. 2019;10:710.Full text  Abstract

Quinn L, Kegelmeyer D, Kloos A, et al. Clinical recommendations to guide physical therapy practice for Huntington disease. Neurology. 2020 Feb 4;94(5):217-28.Full text  Abstract

Reference articles

A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.

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