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Huntington's disease

  • Overview
  • Theory
  • Diagnosis
  • Management
  • Follow up
  • Resources
Last reviewed: 21 Apr 2025
Last updated: 16 May 2025

Summary

Definition

History and exam

Key diagnostic factors

  • positive family history of Huntington's 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
Full details

Other diagnostic factors

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

Risk factors

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

Diagnostic investigations

1st investigations to order

  • no initial tests
Full details

Investigations to consider

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

Treatment algorithm

ONGOING

all patients

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.

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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