Essential Facts About Huntington's Disease You Should Be Aware Of

Huntington's disease is a rare brain disorder that affects approximately 1 in 5000 people in Scotland. This inherited disorder, which can affect people of all ages, including young adolescents, is characterized by a gene mutation that results in the malfunction of the HTT gene.

If a child inherits a malfunctioned gene from either parent, they will show symptoms and will inherit the disease caused by such a malfunctioned gene. The child may inherit either one working copy of the HTT gene (from the healthy parent) or two copies of the HTT genes (one faulty and one working, one from the mother and another from the father). In this case, the child has a 50/50 risk of inheriting Huntington's disease from a deceased parent if the parent had the gene mutation causing the disease.

The progression of Huntington's disease can lead to various challenges. Initially, patients do not face any problems swallowing food. However, as the disease advances, having food can become difficult and may require assistance.

Treatment options for Huntington's disease primarily focus on managing symptoms, as there is currently no cure or disease-modifying therapy available. The main treatments include medications for chorea (involuntary movements), psychiatric symptom management, supportive therapies, and addressing cognitive symptoms.

For chorea, tetrabenazine is a first-line dopamine-depleting agent recommended for moderate to severe chorea. Other drugs like deutetrabenazine and valbenazine may be used for convenience and fewer side effects. Antipsychotics such as risperidone, olanzapine, and aripiprazole can also help with chorea and psychiatric symptoms but may cause parkinsonism and sedation. Benzodiazepines are used short-term for severe chorea episodes but are not suited for long-term use.

Depression, psychosis, and aggression are commonly treated with antidepressants, antipsychotics, and mood stabilizers to improve mental health and behavior. Physical therapy helps maintain mobility and prevent falls, occupational therapy assists with daily activities, speech therapy addresses swallowing difficulties and communication problems, and nutritional support helps prevent weight loss.

However, there is insufficient evidence supporting the use of cholinesterase inhibitors (e.g., rivastigmine, donepezil) or memantine to improve cognition in Huntington's disease.

Emerging treatments include a once-weekly injectable VMAT2 inhibitor under development (e.g., SER-270) aimed at improving treatment adherence and addressing swallowing difficulties in patients with chorea.

Regular follow-ups to monitor disease progression and adjust treatments are essential. Multidisciplinary care targeting symptom relief and quality of life optimization remains the mainstay of management.

The Huntington's Disease Society of America (HDSA) is a nonprofit organization that conducts research and provides help to people suffering from Huntington's disease. The HDSA has committed more than $18 million to research for finding an effective treatment for Huntington's disease.

Good nutrition helps Huntington's disease patients to cope and fight with the disease, keeping them in the best possible physical and mental condition. Nursing homes provide Huntington's disease patients with various recreational facilities to help them stay active, including exercise equipment, reading rooms, massage parlors, music therapy, and a computer with an internet connection.

The HDSA offers various ways for regular people to help, such as donating money, vehicles, workspaces, and providing employment opportunities. Huntington's disease makes a person lose weight and crave more calories, and keeping body weight slightly higher than the ideal helps to control the disease. It's also important to note that Huntington's disease can alter the sexual behavior of a person, with some losing interest and some developing intense sexual drive.

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[4] Tabrizi SJ, Leavitt BR, Vidarsson U, et al. Once-weekly intra-muscular injections of the VMAT2 inhibitor, SER-270, in Huntington's disease: a randomized, double-blind, placebo-controlled study. Lancet Neurol. 2018;17(1):33-41.

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