When viewing this topic in a different language, you may notice some differences in the way the content is structured, but it still reflects the latest evidence-based guidance.

Huntington disease

  • Visão geral
  • Teoria
  • Diagnóstico
  • Tratamento
  • ACOMPANHAMENTO
  • Recursos
Última revisão: 12 Aug 2025
Última atualização: 12 Jun 2025

Resumo

Definição

História e exame físico

Principais fatores diagnósticos

  • positive family history of Huntington disease
  • known expansion of the CAG repeat length at the N-terminal end of the huntingtin gene
  • impaired work or school performance
  • personality change
  • irritability and impulsivity
  • chorea
  • twitching or restlessness
  • loss of coordination
  • deficit in fine motor coordination
  • slowed rapid (saccadic) eye movements
  • motor impersistence
  • impaired tandem walking
Detalhes completos

Outros fatores diagnósticos

  • concentration impairment/task anxiety or apathy
  • cognitive decline relative to partner/siblings
  • changes in personal habits/hygiene
  • disinhibition or unusually anxious behavior
  • depression, obsessions, and compulsions
  • sleep disturbance
Detalhes completos

Fatores de risco

  • expansion of the CAG repeat length at the N-terminal end of the huntingtin gene
  • other genetic factors
  • family history
Detalhes completos

Investigações diagnósticas

Primeiras investigações a serem solicitadas

  • no initial tests
Detalhes completos

Investigações a serem consideradas

  • genetic test for cytosine-adenine-guanine (CAG) repeat expansion
  • MRI or CT scan
Detalhes completos

Algoritmo de tratamento

CONTÍNUA

all patients

Colaboradores

Autores

Mitsuko Nakajima, MD

Clinical Research Fellow

Huntington's Disease Centre

Queen Square

Institute of Neurology

Department of Neurodegenerative Disease

Russell Square House

London

UK

Declarações

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

Agradecimentos

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.

Declarações

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 Center, 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.

Revisores

Adrian Priesol, MD, FRCPC

Instructor

Massachusetts Eye and Ear Infirmary

Harvard Medical School

Boston

MA

Declarações

AP declares that he has no competing interests.

Tiago Mestre, MD, MSc

Resident Neurology

Neurological Clinical Research Unit

Institute of Molecular Medicine

Lisbon

Portugal

Declarações

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.

Referências

Nossas equipes internas de editoria e de evidências trabalham em conjunto com colaboradores internacionais especializados e pares revisores para garantir que forneçamos acesso às informações o mais clinicamente relevantes possível.

Principais artigos

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.Texto completo  Resumo

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.Texto completo  Resumo

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

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.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

    • Tardive dyskinesia
    • Dentatorubro-pallidoluysian atrophy (DRPLA)
    • Neuroacanthocytosis
    Mais Diagnósticos diferenciais

  • Diretrizes

    • Clinical guidance in neuropalliative care: an AAN position statement
    • Clinical recommendations to guide physical therapy practice for Huntington disease
    Mais Diretrizes

  • Folhetos informativos para os pacientes

    Depression in adults

    Huntington’s disease

    Mais Folhetos informativos para os pacientes
  • padlock-lockedConectar-se ou assinar para acessar todo o BMJ Best Practice

O uso deste conteúdo está sujeito ao nosso aviso legal