A clinical diagnosis of Huntington's disease (HD) is usually made on the basis of family history and the presence of unequivocal motor symptoms. While HD typically progresses in a similar manner, each person with HD has a unique onset and severity of symptoms.1 Subtle changes in cognition, mood and behaviour appear years before diagnosis or onset of unequivocal motor signs and are called ‘prodromal’ symptoms.2-4
A genetic test using DNA taken from a blood sample is the most effective and accurate method of diagnosing HD.5
Find out more about genetic testing with the National Institute of Neurological Disorders and Stroke (NINDS).
Genetic testing for HD is typically carried out in one of three scenarios:,1,6-8
● Predictive testing: genetic testing performed in an asymptomatic individual at genetic risk for inheriting HD wishing to determine if they carry the HD-causing gene mutation. Learn about:
o Predictive Genetic Testing for you
o Predictive Genetic Testing for individuals with HD
● Confirmatory testing: genetic test performed in symptomatic individuals, with or without a family history of HD, to confirm an HD diagnosis
● Prenatal testing: a genetic test that can assist in family planning
How you communicate a HD diagnosis can have a bigger impact than you may realise. Hear about Ed’s diagnosis experience.
It is important for individuals with HD to be fully supported before, during and after their genetic testing journey. Involving a team of HD specialists, including genetic counsellors and social workers, will help individuals navigate these complex choices. Various organisations around the world have provided more information on genetic testing that can help during this process.1,6
While each child of a parent with HD has a 50/50 chance of inheriting the disease, genetic testing for HD is potentially useful in three scenarios.1,6,9 Watch Jeanette and Jackie’s story.
HD profoundly impacts the health-related quality of life of affected individuals and their family members. HD is characterised by a triad of cognitive, behavioural and motor symptoms leading to functional decline and progressive loss of independence.9,10
While there are no currently approved treatments that target the fundamental cause of HD, there are symptomatic treatments and therapies that can provide relief for individuals with HD. A range of potential symptomatic treatments is listed below.11 Research is ongoing into the fundamental cause of HD to identify mechanisms for disease-modifying therapies that may slow or stop disease progression.
Regular assessment of individuals and adjustment of medications are required to target the specific movement disorder as it progresses.
● Physical therapy can help with physical conditioning, strength, balance and gait
● Speech and language therapy can assist with communication and swallowing issues
If prescription medication is warranted:
● Monoamine depletors or neuroleptics have been used for chorea
● Medications can be prescribed for dystonia, rigidity or bradykinesia
Regular assessment of individuals is needed for medication and dose management.
● Psychological therapy may help with various behavioural disorders
● Proper sleep hygiene can help prevent sleeping disturbances
● Social support groups are helpful for individuals with HD, so they know they are not alone. See below for more information
If prescription medication is warranted:
● Nonstimulating selective serotonin reuptake inhibitors can be used for depression
● Atypical neuroleptics can help with psychiatric symptoms
Occupational therapy can help with daily functioning such as managing tasks, maintaining routines, as well as maintaining safety and mobility in the home.
To help ensure that individuals with HD receive a consistent level of care, several organisations have established guidelines for the treatment and management of HD.
European Huntington’s Disease Network (EHDN) International Guidelines for Treatment of Huntington’s Disease provides global evidence-based recommendations for everyday clinical practice for the treatment of HD.13
Huntington’s Disease Society of America (HDSA) A Physician’s Guide to Management of Huntington’s Disease is the latest edition of their guidelines, which now shows a much better understanding of the disease’s genetic, biochemical and neuroanatomical basis.1
Since Huntington’s disease (HD) has such varied symptoms, it is important, when possible, for you to work closely with other healthcare professionals to create personalised care plans to address the diverse needs of individuals with HD.9,11
The goal of the multidisciplinary care team is to reduce the burden of symptoms, maximise function and optimise quality of life.1
Within your country, there may be dedicated centres where individuals with HD and their families can get the multidisciplinary support they need throughout the course of their disease.1
Find out if there is a HD specialist centre in your region:
Here are just some of the HD specialists who can help you treat individuals with HD and their specific needs.9,11
Core clinical care team
Allied support team
References
1. Nance M, Paulsen JS, Rosenblatt A, etal. Physician’s Guide to the Management of Huntington’s Disease. 3rd ed 2011. New York, NY: Huntington's Disease Society of America.
2. Bates GP, Dorsey R, Gusella JF, et al. Huntington disease. Nat Rev Dis Primers. 2015; 1:15005.
3. Reilmann R, Leavitt BR, Ross CA. Diagnostic criteria for Huntington's disease based on natural history. Mov Disord. 2014; 29:1335–1341.
4. Paulsen JS, Langbehn DR, Stout JC, et al. Detection of Huntington's disease decades before diagnosis: the Predict-HD study. J Neurol Neurosurg Psychiatry. 2008; 79:874–880.
5. National Institute of Neurological Disorders and Stroke, National Institutes of Health. Huntington’s Disease: Hope Through Research. National Institutes of Health website: https://catalog.ninds.nih.gov/pubstatic//17-NS-19/17-NS-19.pdf (Accessed May 2020).
6. Frank S, Adkison CR, Bennet R, et al. Genetic testing protocol for Huntington’s disease. Huntington’s Disease Society of America website: http://hdsa.org/wp-content/uploads/2015/02/HDSA-Gen-Testing-Protocol-for-HD.pdf (Accessed May 2020).
7. Myers RH. Huntington's disease genetics. NeuroRx. 2004;1(2):255–262.
8. Craufurd D, MacLeod R, Frontali M, et al. Diagnostic genetic testing for Huntington's disease. Pract Neurol. 2015;15(1):80–84.
9. Roos RA. Huntington’s disease: a clinical review. Orphanet J Rare Dis. 2010; 5:40. doi:10.1186/1750-1172-5-40.
10. Ross C, Aylward E, Wild E, et al. Huntington disease: natural history, biomarkers and prospects for therapeutics. Nat Rev Neurol. 2014; 10:204–216.
11. Ghosh R & Tabrizi SJ. Huntington disease. In Handbook of Clinical Neurology, vol. 147 2018; pp. 255–278. Edited by Geschwind DH, Paulson HL & Klein C. Elsevier BV.
12. Kendrick LM, Hudgell D, Hellman A, et al. Attending to total pain in juvenile Huntington disease: a case report informed by narrative review of the literature. J Palliat Care. 2019; 34:205–207.
13. European Huntington’s Disease Network physiotherapy clinical guidelines. European Huntington’s Disease Network 1. website: http://www.ehdn.org/wp-content/uploads/2016/08/English_version.pdf (Accessed May 2020).
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