Written by: Lynn Tian
Edited by: Shruti Shaji
Huntington’s Disease (HD) is a progressive neurodegenerative disorder caused by a genetic mutation. Characterized by motor, cognitive, and psychiatric symptoms, Huntington’s Disease significantly impacts the lives of individuals and their families (Gusella, 2009). Common physical symptoms are chorea (involuntary spasms), dystonia (involuntary muscle contractions leading to slow repetitive movements and abnormal posture), and rigidity. Aside from the physical challenges associated with HD, the cognitive and psychiatric changes, including difficulties with problem-solving, mood swings, and depression, profoundly affect the individual’s quality of life and autonomy (Martin, 1984). Unfortunately, there is no cure for the disease, but there are treatments to help manage the symptoms and improve quality of life. However, access to mental health care still remains extremely limited.
HD affects approximately 1 in every 10,000 people in the United States. About 30,000 Americans are diagnosed with HD and more than 200,000 are at risk of inheriting from a parent (Huntington’s Disease Society of America, 2015). As previously mentioned, the condition is caused by a mutation in the Huntington gene, where the CAG trinucleotide repeat expands beyond the normal range (repeat expansion). Individuals with 40 or more repeats are extremely likely to develop the disease, while those in an intermediate range (27-35) may or may not develop symptoms but can still pass the mutation on to their children (Gusella, 2009).
The mental health implications of HD are a significant challenge as well. According to the World Health Organization, neuropsychiatric conditions are the most significant contributors to disability in HD, with depression, anxiety, and irritability being most predominant (2022). Depression affects up to 40-50% of individuals with HD at some point in their lives, which is significantly higher than the general population prevalence of about 7% (Novak, 2010). Suicide rates among those with HD are also notably higher, with studies indicating that individuals with HD are up to 8 times more likely to commit suicide (Robins Wahlin, 2007). Cognitive decline in HD typically precedes motor symptoms and over time worsens, leading to difficulties in planning, problem-solving, and eventually resulting in dementia. Behavioral symptoms can include apathy, aggression, and social withdrawal, significantly affecting the individual’s overall quality of life.
Despite the advances in our understanding of Huntington’s Disease, stigma remains a significant barrier to the well-being of those diagnosed and their loved ones. The physical symptoms can lead to social isolation, while the psychiatric and emotional struggles can often be misunderstood or dismissed by those unaware of the disease’s full impact. Given the profound impact of HD on mental health, access to comprehensive and more specific mental health services tailored to different needs is crucial. Supportive interventions could play a vital role in managing the psychological and psychiatric symptoms of HD. Cognitive behavioral therapy (CBT) has been shown to be effective in treating depression and anxiety in HD patients, providing strategies to cope with the emotional and cognitive challenges associated with the disease (Duff et al., 2007). However, availability of such specialized mental health services (cost-wise and accessible) remains limited, highlighting the need for increased awareness and healthcare resources.
Huntington’s Disease profoundly affects individuals and families, and their overall quality of life -- physically and emotionally. As research continues to advance the understanding behind the disease, it is imperative to do the same to expand access to mental health support, as well as destigmatizing the challenges presented.
References:
Duff, K., Paulsen, J. S., Beglinger, L. J., Langbehn, D. R., Stout, J. C., & Predict-HD Investigators of the Huntington Study Group. (2007). Psychiatric symptoms in Huntington’s disease before diagnosis: the predict-HD study. Biological Psychiatry, 62(12), 1341–1346. https://doi.org/10.1016/j.biopsych.2006.11.034
Gusella, J. F. (2009). The genetic research cycle in human disease: The Huntington’s disease paradigm. Journal of Medical Sciences, 2(1), 29–32. https://doi.org/10.1186/gm80
Huntington’s Disease Society of America. (2015, January 8). What is HD? https://hdsa.org/what-is-hd/
Martin, J. B. (1984). Huntington’s disease. Neurology, 34(8), 1059–1059. https://doi.org/10.1212/WNL.34.8.1059
Novak, M. J., & Tabrizi, S. J. (2010). Huntington's disease. BMJ, 340, c3109. https://doi.org/10.1136/bmj.c3109
Robins Wahlin, T.-B. (2007). To know or not to know: a review of behaviour and suicidal ideation in preclinical Huntington’s disease. Patient Education and Counseling, 65(3), 279–287. https://doi.org/10.1016/j.pec.2006.08.009
World Health Organization. (2022, June 8). Mental Disorders https://www.who.int/news-room/fact-sheets/detail/mental-disorders
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