Huntington's Disease
Making the Huntington’s disease diagnosis
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 options
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
Providing hope during diagnosis
How you communicate a HD diagnosis can have a bigger impact than you may realise. Hear about Ed’s diagnosis experience.
The decision to undergo genetic testing is very personal
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
A personal choice
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.
Huntington’s Disease symptom management
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.
For individuals who are experiencing motor symptoms11-13
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
For individuals who are dealing with behavioural symptoms1,11
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
For individuals who are experiencing cognitive symptoms1,11
Occupational therapy can help with daily functioning such as managing tasks, maintaining routines, as well as maintaining safety and mobility in the home.
HD treatment guidelines
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
A multidisciplinary approach for managing Huntington’s disease
Benefits of a multidisciplinary care team
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
Working with multidisciplinary care teams
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:
Care team members
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
Neurologists
Neurologists oversee the diagnosis, overall care coordination, neurological management and referrals to other team members during all stages of HD progression.1
Psychiatrists
Psychiatrists work with individuals over the course of their disease, providing overall care coordination, psychiatric management, and medications, while helping them navigate the mental healthcare system.1
Allied support team
Social workers
Social workers help individuals with everything from financial and insurance planning to connecting them with support groups and HD programmes. They also provide access to community services and help manage family conflicts in the later stages of HD.1
Genetic counsellors
Genetic counsellors work in the early stages of HD, assisting individuals with genetic testing and family counselling. 1
Nurse specialists
Nurse specialists manage cases as well as provide telephone counselling and support for individuals with HD and their families. 1
Dietitians
Dietitians work on healthy eating for HD. They make recommendations on calorie counts, food and liquid alterations, and assist with proper feeding tube supplements (if appropriate). 1
Physical therapists
Physical therapists develop exercise programmes and help with home preparedness and safety for the early stages of HD. As the disease progresses, they assess the need for assistive devices and the nonpharmacologic management of dystonia. 1
Occupational therapists
Occupational therapists, if appropriate, do an assessment of the individual’s workplace and their driving abilities in the early stages of HD. Once in the middle to late stages, they help with home safety, assessment of activities of daily living, and the equipment needed for seating, sleeping, feeding, hygiene, etc. 1
Neuropsychologists
Neuropsychologists oversee the management of symptoms related to personality and cognitive changes in individuals with HD. Their role ranges from counselling individuals about compensatory strategies to disability and competence assessments to family counselling in regard to cognitive changes.1
Psychologists
Psychologists offer family support and counselling on matters relating to their relationships, grief and symptom management.1
Speech and language therapists
Speech and language therapists will conduct a pre-emptive evaluation of swallow function and provide counselling about safe swallowing in the early stages of HD. As the disease progresses, they re-evaluate dysphagia, reassess speech and communication skills, and offer individual and family counselling (as needed).1
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).
