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The diagnosis is usually confirmed through identification of an increased CAG repeat length in the huntingtin gene in a patient with clinical features of the condition. Though diagnosis is usually straightforward, unusual presentations can occur, and it can be difficult to know when someone has transitioned from being an asymptomatic carrier into the disease state. This has become increasingly important recently, with several putative disease-modifying therapies entering trials. A growing number of conditions can mimic HD, including rare genetic causes, which must be considered in the event of a negative HD genetic test. Patients are best managed in specialist multidisciplinary clinics, including when considering genetic testing. Current treatments are symptomatic, and largely directed at the chorea and neurobehavioural problems, although supporting trial evidence for these is often limited.<\/jats:p>","DOI":"10.1136\/practneurol-2021-003074","type":"journal-article","created":{"date-parts":[[2021,8,19]],"date-time":"2021-08-19T14:39:41Z","timestamp":1629383981000},"page":"32-41","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":203,"title":["Huntington\u2019s disease: diagnosis and management"],"prefix":"10.1136","volume":"22","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5186-7630","authenticated-orcid":false,"given":"Thomas B","family":"Stoker","sequence":"first","affiliation":[{"name":"John van Geest Centre for Brain Repair, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah L","family":"Mason","sequence":"additional","affiliation":[{"name":"John van Geest Centre for Brain Repair, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia C","family":"Greenland","sequence":"additional","affiliation":[{"name":"John van Geest Centre for Brain Repair, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon T","family":"Holden","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Addenbrooke\u2019s Hospital, Cambridge, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Santini","sequence":"additional","affiliation":[{"name":"Huntington Disease Association, Liverpool, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roger A","family":"Barker","sequence":"additional","affiliation":[{"name":"John van Geest Centre for Brain Repair, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK"},{"name":"Wellcome Trust Medical Research Council - Cambridge Stem Cell Institute, Cambridge, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2021,8,19]]},"reference":[{"key":"2025090409421354000_22.1.32.1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2012-304636"},{"key":"2025090409421354000_22.1.32.2","first-page":"320","article-title":"On chorea","volume":"26","author":"Huntington","year":"1872","journal-title":"Med Surg Rep"},{"key":"2025090409421354000_22.1.32.3","doi-asserted-by":"crossref","first-page":"15005","DOI":"10.1038\/nrdp.2015.5","article-title":"Huntington disease","volume":"1","author":"Bates","year":"2015","journal-title":"Nat Rev Dis Primers"},{"key":"2025090409421354000_22.1.32.4","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1016\/j.jns.2019.05.010","article-title":"Clinical phenotype in carriers of intermediate alleles in the huntingtin gene","volume":"402","author":"Savitt","year":"2019","journal-title":"J Neurol Sci"},{"key":"2025090409421354000_22.1.32.5","doi-asserted-by":"crossref","unstructured":"Stoker TB , Holden ST , Barker RA . 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